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Suicide and genetics: a complicated association – Medical Xpress

April 22, 2017 by From Mayo Clinic News Network, Mayo Clinic News Network

Dear Mayo Clinic: Why does it seem that suicide tends to run in families? Does it have anything to do with genetics?

A: The association between genetics and suicide is complicated. Research has shown that there is a genetic component to suicide. But it is only one of many factors that may raise an individual's risk. And even if someone is at high risk for suicide, that doesn't predict whether or not an individual will actually act on suicidal thoughts.

Genetic research, including studies involving twins, has revealed that many psychiatric conditions, including having suicidal tendencies, are influenced by genetics. While studies demonstrate that specific genes, such as one called the BDNF Met allele, can increase risk for suicide, it's more likely that a range of genes affect connections and pathways within the brain, and impact suicide risk.

Complicating matters further, a process called epigenetics also comes into play when considering the effect of genes on suicide. This process controls when certain genes are turned on or off as a person grows and develops, and it can be influenced by what happens in a person's environment.

For example, if someone goes through a difficult event as a child, that experience could have an impact on how or when a gene is activated within that person's brain. Researchers speculate that negative experiences influencing epigenetics in a person who has a family history of suicide could further compound that person's suicide risk.

In addition, it is known that 90 percent of people who die by suicide have a psychiatric illness at the time of death. Mood disorders, psychotic disorders, certain personality disorders and substance use disorders can increase suicide risk substantially. Each of those disorders has a genetic component, too.

It's important to understand, however, that an increased risk of suicide does not predict who will commit suicide. For some people - even those whose genetics may seem to predispose them to a higher suicide risk - the thought of suicide doesn't enter their minds. For others, suicide quickly may become a focus of their thoughts.

For those whose thoughts do turn to suicide, the way they arrive at suicidal thoughts may be a well-imprinted and familiar pathway. Psychotherapeutic treatment can help examine the process they go through to get to that point and find ways to interrupt the process.

Genetics, family history and environment all matter when it comes to the risk of suicide. But knowing risk factors is not a substitute for a thorough assessment of an individual's situation and the process he or she takes to arrive at suicidal thoughts.

If you or a loved one are concerned about your risk for suicide, or if you've had suicidal thoughts, talk to a mental health professional. To help you find ways to break the cycle that leads to suicidal thoughts, he or she can work with you to treat any psychiatric illness that may be present and help you understand the process you're going through when you turn to the possibility of suicide.

If you are in a suicide crisis or emotional distress, the National Suicide Prevention Lifeline provides free, confidential emotional support 24/7 at 1-800-273-8255 (toll-free).

Explore further: Caring youth-parent relations can be vital to preventing adolescent suicide attempts

2017 Mayo Foundation for Medical Education and Research Distributed by Tribune Content Agency, LLC.

Positive relations between youth and their parents can be key to preventing adolescent suicide attempts, according to the University of British Columbia (UBC) research.

(HealthDay)Among teens and young adults with bipolar disorder, researchers have linked brain differences to an increased suicide risk.

(HealthDay)Family, friends and acquaintances can play a key role in suicide prevention by being alert for signs and taking action to help someone who may be struggling, a mental health expert says.

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A study conducted by researchers from the Karolinska Institute shows that patients with an experience of violence have an increased risk to carry out repeated suicide attempts.

Friendships play a vital role in helping people get through substantial challenges in life, according to a new study.

Stimulating the brain by taking on leadership roles at work or staying on in education help people stay mentally healthy in later life, according to new research.

The research, published in the journal, Addiction, also showed for the first time that there is sufficient evidence to demonstrate that for patients who already have schizophrenia, cannabis makes their symptoms worse.

In a new study of a Brown University scholarly course on mindfulness that also included meditation labs, researchers found that the practice on average significantly helped women overcome "negative affect"a downcast moodbut ...

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Suicide and genetics: a complicated association - Medical Xpress

The importance of understanding the fundamentals of genetics – The University News

Why do children look more like their mother than their father? Why do people have diseases such as Albinism or Trisomy 21? Does the environment influence our appearance? These questions all deal with genetics and heredity. Genetics is the study of genes and their impact on organisms. Genetics deals with DNA and RNA, cell division, laws of inheritances, mishaps in genetic machinery and how genes and the environment influence the phenotype. I believe genetics is very important in each and every human being, especially as our traits are determined by it.

Genetics starts with the microscopic. Humans all have cells, which are the basic units of life. These cells contain hereditary information in the nucleus known as DNA (Deoxyribonucleic Acid). DNA contains the instructions that allow organisms to express their characteristics. Some traits include lactose intolerance, five-fingered hands and melanin production. These result from biological proteins. Te method in which proteins are made is known as the central dogma. The DNA produces RNA (Ribonucleic Acid), which is a single-stranded molecule. This acid is made in order to transport it out of the nucleus of the cell. The site of protein synthesis occurs outside the nucleus, specifically in the Rough Endoplasmic Reticulum. RNA helps produce the proteins at this site. With these proteins, traits are expressed. Without the central dogma, there would be no production of proteins that are necessary for survival and growth. There would be no life without the essential proteins.

In addition to protein synthesis, cells need to multiply rapidly in order to provide sufficient functions in the body such as formation of tissues and organs. Cells divide by two methods: mitosis and meiosis. The former deals with reproducing somatic body cells. In mitosis, two body cells are made per cell and the genetic information is passed on from the parent to the daughter cell. Meiosis is the process of producing gametes or sex cells. In meiosis, half of dads chromosomes are expressed in the child and the other half comes from mom. Trough meiosis, a genetically unique individual is created.

Problems can exist with cell division; a major problem that occurs is cancer. Cancer results from abnormal growth and division of cells. The cells undergoing mitosis never stop dividing, and too many cells are detrimental to the body. The cells move from one body section to another, which makes it hard to stop and remove all of the tumors. I believe this is an important area of study because it is important that we understand how traits pass from one generation to the next, and it is important to understand abnormal proliferation of cells during division. Without understanding this, it will be very hard to cure and treat those who have cancer. Understanding the basis of tumor growth allows doctors to save lives.

Scientists have used pedigrees to study human inheritance patterns. They study autosomal and sex-linked traits among people in a family and what is the likelihood that others will have or will not have a disease. Inheritance can also help to find certain problems that exist. One example is sickle-cell anemia. Tis is caused by homozygous recessive alleles for the blood cell gene. The proteins produced cause red blood cells to form their sickle shape. These sickle cells have a decreased surface area and cannot uptake enough oxygen. Understanding inheritance is crucial because you should be able to figure out the probability that your offspring will have some disorder and what the preventive measures are if there is a high probability.

Our phenotypes are not totally dependent on the outcomes of genetics. Lots of times, the environment plays a role with expression. Another branch of genetics is known as epigenetics. Epigenetics is the study of how external factors affect the expression of DNA rather than the change in the genetic code. Rabbits, for example, have different colored ears in different environments. Different environments have different external stimuli that affect the expression of the code. You know that living in different environments affect the moods and behaviors of people. Some may prefer the heat over the cold, while others may prefer the opposite.

Of course, this may seem a simple overview of genetics, but it is very complex. Genetics is very important as it determines the individual and the properties that exist within in that individual. While we may think about it, genetics apply to our lives each and everyday.

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The importance of understanding the fundamentals of genetics - The University News

Henrietta Lacks: The True Heroine of HBO’s Latest Movie, Starring Oprah – NBC4 Washington

Henrietta Lacks (left) died in 1951 from cervical cancer, but her cells, called "HeLa cells" (center) are still used in research today. Oprah Winfrey plays Lacks' daughter, Deborah Lacks, in an HBO movie about the woman that changed modern medicine.

When Oprah Winfrey signs her name to something, it captures attention far and wide. Her latest project is no exception.

Winfrey stars Saturday in HBO's "The Immortal Life of Henrietta Lacks," a movie based on the national bestseller that tells the real story of a woman whose cervical cancer cells propelled advancements in medical research.

"I was really like, how could I have been a reporter all those years and never heard of HeLa cells and never heard the name Henrietta Lacks?" Winfrey, who was once a reporter in Baltimore, told NBC News.

From countless medical advancements to a family torn apart, the story of Henrietta Lacks' cells is multi-faceted.

Below are six things to know about Henrietta Lacks' contribution to science ahead of the HBO premiere.

Henrietta Lacks (HeLa)

Henrietta Lacks was a 31-year-old African American mother of five from rural southern Virginia. She died in 1951 after being diagnosed with cervical cancer at Johns Hopkins in Baltimore.

As told in Rebecca Skloot's bestseller, doctors took her cells without her knowing during her cancer treatment and discovered the cancer cells' remarkable ability to keep growing -- something that had never been seen before. They called them HeLa cells for the first two letters of her first and last name.

Immortal Cells

As the title of the book and movie implies, Lacks lives on through her cells that continue to grow in laboratories to this day.

For decades, scientists grew and sold HeLa cells around the world, but didn't know why or how her cancer cells managed to replicate and thrive.

In the 1980s, German virologist Harald zur Hausen discovered the cells had human papillomavirus or HPV. HeLa cells contain a strain of the virus which doctors now know can cause cervical cancer.

Two HPV genes in HeLa cells are what allow them to keep growing and growing, according to Dr. Richard Schlegel, the chair of Georgetown University's Department of Pathology.

"If you turn off those two genes in that cell, the cell stops growing. It doesn't form tumors anymore," Schlegel said.

HeLa cells are the oldest and most commonly used cell line and the "workhorse" cells, as Skloot called them, are so hardy that they are known to sometimes contaminate experiments.

"It's a very durable cell line. It's very easy to grow. It's almost like the equivalent of a weed in a lawn, you know, when the summer gets hot, your grass dies and these weeds somehow maintain themselves and that cell is like that," Schlegel said.

Major Strides in Medicine

Schlegel used zur Hausen's groundbreaking research on HeLa cells in developing the technology for the HPV vaccine, which now helps prevent women from dying from the same illness that took Lacks' life.

HeLa cells have also helped in eliminating polio, developing in vitro fertilization and creating cancer drugs.Lacks' cells have traveled the globe and gone to space.

They were critical for scientists to answer questions about basic biology, such as how cells move, DNA, RNA and protein synthesis, Schlegel said.

"It really opened up the era of cell biology and molecular biology and understanding it at a new level," Schlegel said.

In more recent research, scientists have found that the Zika virus cannot multiply in HeLa cells.

A Different Era

While HeLa cells have led to extraordinary advancements, the way in which Lacks' cells were taken and the lack of transparency with her family is in conflict with current ethical standards in medicine.

In 1951, there was no consent required from patients.

"Medicine was not really a business yet, it was just coming out of the 'family doctor comes with his little black bag' era," said Dr. Arthur Caplan, head of the Division of Bioethics at New York University Medical Center. "In 1951, we have no kidney dialysis, no ventilator, no heart-lung machine, no intensive care unit, almost no drugs -- much less -- no gigantic pharmaceutical companies."

Caplan said doctors also weren't truthful with patients about their diagnosis during that time -- no matter the patient's race or economic class. Doctors often wouldn't tell patients they had cancer for fear of scaring the patient.

"The basic idea of truthfulness with patients, much less with subjects, wasn't in place," Caplan said.

Henrietta was informed of and underwent radiation for her aggressive cancer, but like most patients during that time, did not have a say in her cells being used for research. Her family didn't know about HeLa cells until 20 years after her death, when doctors tested the family's blood for more research. But the family didn't understand what was happening and doctors continued to withhold information.

This lack of transparency created the distrust voiced by Deborah Lacks, Henrietta's daughter who is portrayed by Winfrey in the movie.

Lacks Family "Torn Apart"

"I could [cry] when I think about Deborah and hear her voice from the tapes, how eager she was to know about her mother and to have this story told," Winfrey said in an interview with NBC News.

For decades, no one knew about the woman behind the amazing immortal cells, which is what inspired author Rebecca Skloot to tell her story. Skloot found Deborah and discovered the family of the woman whose cells led to major medical breakthroughs could not afford their own health care.

The Lacks family was never compensated or profited from HeLa cells, although the cells have led to millions of dollars in profits as they have been sold for a myriad of studies. Johns Hopkins has said it never profited from HeLa cells, but some of Henrietta's descendants maintained they should receive payment.

"Unfortunately some members of the family are still being torn apart... by the burden of those cells," Winfrey said.

According to Caplan, research subjects and their families are not paid today, but one simple change has been made since the 1950s.

"It's not different than it was for Henrietta Lacks or anybody else... But now institutions, to protect themselves, basically say, 'We're not going to pay you if something valuable is made from your cells,'" Caplan said.

In 2013, three years after the book was published, more concerns came for the family after a group of scientists in Europe published the genetic makeup of the cells. The family was concerned that anyone who had the full genome map could learn personal medical information about them and asked for the researchers to withdraw the paper.

After the study was withdrawn, the Lacks family met with the National Institutes of Health and came to an agreement about how to proceed with publishing information about the genome.

Lessons Learned

Caplan said the Lacks family will never profit from HeLa cells, but their agreement with the NIH is a major milestone in medical ethics.

"I think they do have the right to control [the genome] anything that identifies somebody or potentially identifies somebody -- you have the right to consent to its use or not," Caplan said.

Out of the agreement came the HeLa Genome Working Group, which includes two representatives of the Lacks family. Those family members now choose which researchers can have access to HeLa cells.

Meanwhile, Skloot has set up a foundation for the family using proceeds from the book and movie. The foundation provides scholarships for Lacks' descendants and health care for Henrietta's children.

The Lacks family is still hoping that research organizations and companies that have profited from HeLa cells will do something to honor Henrietta and recognize what her family went through, according to Skloot.

HBO's movie will premiere Saturday, April 22 at 8 p.m. Eastern Time.

Published at 4:00 PM EDT on Apr 21, 2017 | Updated 5 hours ago

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Henrietta Lacks: The True Heroine of HBO's Latest Movie, Starring Oprah - NBC4 Washington

Seattle’s March for Science draws thousands on Earth Day including a Nobel Prize winner – Seattle Times

Damn right Im in this march, said Eddy Fischer, 97, professor emeritus of biochemistry at the University of Washington and Nobel Prize co-winner in 1992 for physiology or medicine. He was among thousands gathered at Cal Anderson Park on Capitol Hill.

A crowd of several thousand gathered Saturday at Cal Anderson Park on Seattles Capitol Hill for the March for Science to Seattle Center. It is part of similar marches being held around the world, with scientists, students and research advocates and ordinary citizens conveying an Earth Day global message of scientific freedom without political interference.

Participants holding signs such as Make America smart again and Climate change is real began arriving around 9 a.m.

Anticipation of Seattles march attracted a social-media following second only to the main event in Washington, D.C. Another dozen marches were planned around the state, from Kennewick to Coupeville.

In Seattle, the promised rain began arriving at about 10:45 a.m. , but with temperatures in the low 60s it was relatively nice spring weather for this city.

The event began with a guitarist playing the Star Spangled Banner in Jimi Hendrix style. People cheered.

Among those attending was Julie Smith, of Mountlake Terrace, who had taken the bus to the march with her husband.

She was holding a sign that said, Survived cancer? Thank science!

Smith said, I have a lot of friends who survived cancer. They wouldnt be here if scientists werent investigating cancer.

She perceives an anti-science movement among some politicians. I dont know why, Smith said. I guess they play to their base, fundamentalist Christians.

Also in the crowd: Eddy Fischer, 97, professor emeritus of biochemistry at the University of Washington and Nobel Prize co-winner in 1992 for physiology or medicine.

He was a there using a wheelchair.

Damn right Im in this march, he said.

Of the Trump administration, Fischer said, I know very little about politics. Im appalled by some of the statements coming out of them.

President Donald Trumps proposed budget, if enacted by Congress, would cut nearly 20 percent of funding for the National Institutes of Health (NIH).

Those cuts would be devastating to Seattles medical research community, and the pipeline for critical advances, scientists say. For example, the Fred Hutchinson Cancer Research Center receives 85 percent of its budget from the NIH, or nearly $250 million annually more NIH grants than any other cancer-research center in the nation.

From Germanys Brandenburg Gate to the Washington Monument on Saturday, crowds around the world urged spending what is necessary to make breakthroughs possible.

We didnt choose to be in this battle, but it has come to the point where we have to fight because the stakes are too great, said climate scientist Michael Mann, who regularly clashes with politicians.

Standing on the National Mall in D.C. with thousands soaked by rain Saturday, Mann said that like other scientists, he would rather be in his lab, the field or teaching students. But driving his advocacy are officials who deny his research that shows rising global temperatures.

President Donald Trump, in an Earth Day statement hours after the marches kicked off, said that rigorous science depends not on ideology, but on a spirit of honest inquiry and robust debate. The president also said his administration was committed to advancing scientific research that leads to a better understanding of our environment and of environmental risks.

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Seattle's March for Science draws thousands on Earth Day including a Nobel Prize winner - Seattle Times

How neuroscience boosts leadership skills – Human Capital

In a world full of change, just keeping up has become a full-time occupation, according to Dr Jenny Brockis, medical practitioner and author of the book Future Brain.

Rapid technological advance requires us to incorporate new ways of thinking and doing, and has led to the automation of many tasks.

This can result in the generation of an undercurrent of anxiety and fear, of losing our job, of becoming irrelevant, and fearing the future, she said.

According to Dr Brockis, looking beyond potential threat and towards potential opportunity is where the adaptive leader can exert significant influence.

Influence comes from understanding how the brain perceives novelty; its preference being to seek familiar patterns, she said.

While curious, the brain has to decide very quickly whether this poses a potential threat or reward.

Dr Brockis added that because our evolution has depended on our ability to stay alive, the brains default setting is to assume danger first and ask questions later.

The brain savvy leader looks for ways to minimise the threat response and promote the towards-state of possible reward, she said.

The importance of this lies in the findings of neuroscience that shows how a towards-state promotes a more positive mood and better access to the pre-frontal cortex, helping us to think well, learn effectively and get on better with others.

"Reducing threat influences our level of adaptability, boosting resilience and capability."

Dr Brockis outlined how adaptability includes three core components: curiosity, mindset, and emotional regulation.

Curiosity

Curiosity is the enquiring mind, asking how things can be done differently, improved upon and corrected if necessary. The curious leader recognises they dont have all the answers and is willing to ask questions, listen and ask for help. Curiosity contributes to critical thinking, examining the information available, checking its validity, and our own biases and assumptions to facilitate the best decision.

We make sense of our world using our own set of lenses, filtering information against the backdrop of our values and belief systems that evolve during our childhood and are carried forward into adulthood. The attitudes we adopt whilst deeply embedded can be altered thanks to our wonderfully plastic brain that enables us to develop new patterns of thinking and habits to supersede those we identify as being less helpful.

Working in an environment where thats the way we do things here is great for consistency and worked well in previous eras where employees expected to work according to a set of rules. However, it leaves little room for innovation or adoption of new technologies.

Mindset

A fixed mindset means we see the world in a black or white dimension with no room for any shades of grey. Being content with the status quo means theres no incentive to do things differently and avoids that nasty risk of failure.

The adaptive leader with an open mindset looks beyond the boundaries of their own knowledge and experience to seek new challenges and possibility, comfortable with the notion that failure simply reflects what didnt work and provides the opportunity to improve next time.

Emotional regualtion

The ability to regulate emotion is a skillset frequently underestimated in its power to influence good decision-making and faster problem solving. Emotion underpins our best cognition. The adaptive leader looks to promote a positive workplace atmosphere that enhances collaboration, contribution and creativity. Adaptive leadership is the continuum that effectively navigates resistance to change and promotes possibility thinking by disrupting the status quo.

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How neuroscience boosts leadership skills - Human Capital

Cormac McCarthy explains the brutal, beautiful neuroscience of the unconscious – Quartz

When Cormac McCarthy writes an essay on the origin of language and the history of the unconscious mind, you can expect to find yourself wiser after reading it. The author, who has a cult fanbase for his novels The Road, All the Pretty Horses, and No Country For Old Men, doesnt disappoint in his new piece for the science magazine Nautilus.

It turns out McCarthy has been thinking about the unconscious and how it relates to human language for a couple of decades. He has indulged this exploration as a member of the Santa Fe Institute, a nonprofit organization whose researchers study the underlying, shared patterns in complex physical, biological, social, cultural, technological, and even possible astrobiological worlds, according to its website.

And now McCarthy has somehow distilled the lofty ideas, unanswered questions, and epiphanies collected during this long inquiry into a beautifully written narrative.

But of course he did. Thats his calling, as he writes in the essay: The facts of the world do not for the most part come in narrative form. We have to do that.

The Kekul Problem begins with McCarthys take on one of historys most famous dreams: the German chemist August Kekuls vision of the ouroboros, a snake eating itself, which provided a visual answer to his question about the shape of the benzene molecule. He shared that solution with the world in an 1865 paper.

This story raises a logical problem, points out McCarthy (who favors minimal punctuation and doesnt use apostrophes in negative contractions):

The problem of coursenot Kekuls but oursis that since the unconscious understands language perfectly well or it would not understand the problem in the first place, why doesnt it simply answer Kekuls question with something like: Kekul, its a bloody ring, To which our scientist might respond: Okay. Got it. Thanks.

Why the snake? That is, why is the unconscious so loathe to speak to us? Why the images, metaphors, pictures? Why the dreams, for that matter.

A logical place to begin would be to define what the unconscious is in the first place. To do this we have to set aside the jargon of modern psychology and get back to biology. The unconscious is a biological system before it is anything else. To put it as pithily as possiblyand as accuratelythe unconscious is a machine for operating an animal.

The rest of the essay gently sinks into that question, examining what the unconscious doesnt do (like tell us to keep breathing), and where it excels (in solving mathematical equations, for instance).

Its actually so common for mathematicians to solve problems in their dreams that George Zweig, the Russian-American physicist and friend to McCarthy, calls sleeping the Night Shift. The unconscious teaches usour conscious, decision-making brainlessons through recurring dreams, McCarthy explains, writing this hilarious dialogue for that mysterious part of our primeval minds:

Here the unconscious may well be imagined to have more than one voice: Hes not getting it, is he? No. Hes pretty thick. What do you want to do? I dont know. Do you want to try using his mother? His mother is dead. What difference does that make?

While language is useful for describing problems, thinking is an unconscious act, McCarthy demonstrates, pointing out that because of language, we can remember novels and booksbut we do that using concepts and visual representations in our mind, not by remembering the words we read.

He describes language as a force that at some point took possession of our brains, like a parasitic invasion:

The sort of isolation that gave us tall and short and light and dark and other variations in our species was no protection against the advance of language. It crossed mountains and oceans as if they werent there. Did it meet some need? No. The other five thousand plus mammals among us do fine without it. But useful? Oh yes. We might further point out that when it arrived it had no place to go. The brain was not expecting it and had made no plans for its arrival. It simply invaded those areas of the brain that were the least dedicated.

Eventually McCarthy does offer an answer to that question of why Kekuls unconscious conjured up the snake. I wont share it, but Ill tell you its related to the unconscious minds long history, dating back to the earliest humans of two million years ago, predating language by about 900,000 years.

Read the whole essay at Nautilus to find out, but keep in mind its just a hypothesis. After all, as McCarthy writes, How the unconscious goes about its work is not so much poorly understood as not understood at all.

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Cormac McCarthy explains the brutal, beautiful neuroscience of the unconscious - Quartz

Why understanding the genetics of my heart disease isn’t much help – Ars Technica

Atrial fibrillation is a heart disorder that causes the upper chambers of the heart to spasm instead of beating regularly. While that sounds dangerous, the lack of a regular heartbeat itself isn't dangerous. Instead, a-fib causes lots of indirect problems that can be debilitating or fatal. We're making progress in understanding the disease, as evidenced by two new papers that identify a total of 18 genes that predispose people to a-fib.

That should be exciting news. And it should be especially exciting to me, since I could have easily contributed to that studyas one of its subjects. I have a-fib, which I seem to have inherited from my mother.

Getting a better understanding of a disease can open all sorts of possibilities for better treatments, even ones tailored to your own particular genetics. But that's not really the case with a-fib, and it provides a great example of how science can sometimes run up against limits even as it successfully increases our knowledge.

Your heart has four chambers, two smaller ones on top called atria, and two much larger ones called ventricles. The rhythmic beat of your heart is the product of the regular contractions of these sets of chambers, first the atria, and then the ventricles. These contractions are organized by the unique properties of the heart muscle cells. These cells are driven to contract by a small electrical jolt delivered by a neighboring cell. In addition to contracting, this jolt causes these cells to release ions from storage areas, creating a small electrical jolt that they forward to their neighbors.

Some of their neighbors have already contracted, and so can't respond to this electrical signal immediately. The rest contract and forward it on further. This creates a wave of contractions that can only travel in one direction: away from the source of the signal at the top of the atria (or top of the ventricles), towards cells that haven't yet been triggered to contract. This organized wave of contraction, combined with a system of valves, drives the flow of blood in one direction.

In a-fib, all of this goes wrong. Multiple signals start, and take confused routes through the heart. Rather than a directional wave of contraction, the atria twitch and spasm. Rather than being driven in to the ventricles, the blood gets pulled in irregularly as they expand.

This might sound catastrophic, but the main force driving your blood through your body is the contraction of the larger ventricles. Some people remain completely unaware that they've developed a-fib until it's picked up during routine screening. Others, however, experience a variety of symptoms: pounding or irregular heart beats, changes in blood pressure, light headedness, and more. (My a-fib announced itself by a racing, pounding heartbeat that woke me from sleep at two in the morning.)

But none of those symptoms makes a-fib a serious health threat. Instead, the problems are invisible and insidious. Without the ordered contractions that drive blood out of the atria, it tends to pool up in the quieter corners, sometimes forming small clots. These eventually travel throughout the body until they lodge in small blood vessels, cutting off the blood supply to a small piece of tissue. Over time, this damage piles upin the heart, in the brain. A-fib is a major risk factor for strokes, heart failure, and early-onset dementia.

It's a terrible disease for those who suffer from these debilitating consequences, and they place a large burden on our healthcare system. Obviously, understanding more about why it happens would be a positive development.

Some cases of a-fib are rare events, brought on by things like hormone imbalances or even a bout of heavy drinking (ER doctors apparently refer to it as "Friday night heart"). But for many people, once it starts, it's there to stay. And it tends to run in some families like mine, suggesting that genes can help contribute to the risk of developing the disorder.

That fact would seem to provide a lot of hope for people suffering from it. After all, if we could understand the gene involved, we might be able to identify the environmental factors that convert that risk into actual symptoms. Or we could design drugs that specifically target the defective proteins that are causing the problem. Or even, in the not too distant future, we could intervene at the genetic level itself, editing or replacing the troublemaking stretch of DNA.

Genetics, as these new papers drive home, isn't being quite so cooperative. There is not a single, or even a handful of genes involved in raising the risk of a-fib; the new papers bring the total up to the neighborhood of 30, with the potential for even more to come. Some risk factors appear for the moment to be specific to different ethnic groups, for reasons we don't understand yet.

And, perhaps most significantly, they show that, on a biological level, a-fib isn't a single disorder. It's four or more. Many of the genes encode channels that let ions move within and between cells, an activity that helps create the tiny electrical jolts that trigger contractions. Others seem to be involved in the structure of cardiac muscle itself. Yet another class appears to help control the development of the heart, and may cause the disorder by creating structural defects. A possibly related class helps the nervous system form connections; failure of that process could also lead to structural defects.

Then there are the oddballs that we don't understand at all yet, like the genethat is involved in a-fib and "has been shown to be important in determining the invasiveness of cancer cells and has been suggested to mediate the neurotoxic effect of -amyloid in Alzheimer disease."

It's easiest to see why these results are pretty unhelpful by going through different points where you could intervene with a-fib. For most people, a-fib doesn't develop until later in life (mine started in my 40s), suggesting that it might involve some combination of genetic predisposition and environmental factors. But the complicated genetics suggest that, if environmental factorsexist, there may be lots of them, some specific to different classes of genes. It's a recipe for incredibly slow progress; teasing out any one of these could potentially take an entire career, and numerous (and expensive) human cohort studies.

Another option for intervention, and one used now, is to minimize the consequences of a-fib. The worst of these are caused by blood clots, so people with the disorder are often given anti-coagulants. (The recent development of a more effective anticoagulant has even led to an a-fib-specific pharmaceutical ad blitz.) Here, the underlying genetics are irrelevant. Regardless of what's causing the disease, limiting the risk of blood clots will be effective at cutting down on consequences.

For some of the genes, however, there is some cause for optimism when it comes to other treatments. Standard therapiesfor a-fib include trying a set of drugs that tone down the action of ion channels, making the heart a bit less reactive to electrical signals. This can reduce or eliminate periods of a-fib for some people, but finding the right drug and dose is a matter of trial and errorone that doesn't always end in success. If we know that a specific ion channel is the problem in a patient, it's possible that we could direct this process with some intelligence, identifying those who a drug is likely to work for and which drugs are likely to work.

But for people with structural defects put in place early in development, the only option would seem to be to redo the architecture of the heart. And, perhaps surprisingly, this is an option. But it doesn't depend on knowing anything about the heart's architectural problems.

The standard surgical intervention for a-fib relies on a somewhat odd finding. Medical researchers noted that cardiac muscle cells don't stay restricted to the heart. A few of them will migrate up into the blood vessels that connect the atria to the lungs. There, they end up outside the flow of electrical signals that organizecontractions across the heart. But, if they happen to contract spontaneouslysomething heart muscle cells will do even if you're growing them in culture dishthey can send electrical signals back in to the heart. These signals can interfere with the heart's normal rhythm, setting off a-fib.

The surgical treatment involves sending a probe through arteries and into the heart. There, doctors use an intense burst of radio waves to heat and kill small groups of cardiac cells, burning rings around the blood vessels that lead to the lung. These rings are repaired by scar tissue, which doesn't conduct electrical signals. Thisworks in the majority, but not all casessome people need try it multiple times before their a-fib is calmed. If the procedure is successful, though, the cells in the blood vessels can send all thesignals they want towards the atria;they never get there. Freed of the interference, the heart beats normally.

Perhaps the most striking thing about this procedure is that it seems to work for nearly everyone, regardless of what type of genetic predisposition they might have. For people who end up opting for this treatment, their genetic status is irrelevant. It seems to work if the problem is the heart's architecture, or if it's in the muscle cells themselves. Even if the problem is an ion channel that's found throughout the heart, silencing this one source of noise seems to be enough to quiet the problem.

Unfortunately, these sorts of results are not unusual in biology. People who follow biomedical research superficially can be forgiven if they get the impression that there are constant promises of progress that largely remain unfulfilled. But these new findings represent real progress, even if they don't tell me, a geneticist, anything useful about a genetic disease I have. They don't help us much when it comes to treatments at the moment, and it's hard to see how they will in the immediate future.

But the knowledge won't go away, and there may well be a time where this lays the foundation for a more refined treatment than burning scar tissue into the heart.

More here:
Why understanding the genetics of my heart disease isn't much help - Ars Technica

Of Slavs, Slaves, Vikings, and Genetics – Patheos (blog)

I recently had a DNA test to help trace my ancestry, and the result surprised me. The larger story might shed light on one of the grimmest and most forgotten horrors of European history, an era of brutal slave trading.

By way of background, my known genealogy is very straightforward indeed. It shows close to 100 percent Welsh not just Welsh, but one specific bit of south Welsh. That means mainly West Glamorgan, within a few miles of the city of Swansea, although with a couple of English guysin the 17th-18th centuries (In Wales, we call that diversity). Ican identify all my ancestors through all lines back to about 1840, and far beyond that in some lines.

Hence, I am near pure 100 percent Welsh on all sides. However, through the years, I have faced a nagging question. Welsh people are stereotypically short and dark, which I am not. (I am 62, and not so dark). Nor were my uncles and aunts, who were all pretty tall people. At least they were on my maternal side, and Ill explain in a moment why that distinction matters.

When I am in Europe, people all over the continent often have me marked as German, and address me as such. They greet a line of tourists like this: Good morning sir! Good morning sir! Then they come to me: Guten Tag, mein Herr! WhenI am in Norway, the locals assume I am Norwegian.

What on earth is happening? Something was amiss. I was amiss.

Hence my inspiration to take the DNA test, and the result is fascinating. (I used FamilyTreeDNA). In total contrast to the genealogy, the DNA gives me as 90 percent British Isles origins and eight percent Eastern Europe, plus a smattering from south-east Europe. Now, it never pays to take such percentages precisely, but this is suggestive. And I can confirm that Eastern Europe linkage from another source.

More specifically, I had my mitochondrial DNA done, which only traces descent in the female line mother to daughter to daughter, so that I cannot pass it on to my children. We measure this by the MtDNA haplogroup, of which there are a couple of dozen world-wide, and each is given a capital letter, so that for instance M is found among people in south east Asia, D in Japan, O in China, etc.There are also lots of subsets of those larger families. British Isles haplogroups are often J or T. The main MtDNA hapologroup in Wales is H.

My haplogroup, though, is none of the above, it is U, and specifically U4. It is in fact a striking (and quite rare) U4a1a, which points to Eastern Europe or the Baltic.

https://en.wikipedia.org/wiki/Haplogroup_U_(mtDNA)#Haplogroup_U4

Inthe available databases online, most people with that haplogroup tend to be Swedish, German, Danish, Polish . Now, that statement is a bit slanted, as these databases only include people who have paid quite a bit to get their DNA results done, so that would lead to a massive over-representation of wealthy northern Europeans. In no sense are these reliable scientific samples, nor do they say anything definitive about the actual distribution of U4 across Europe. Even so, U4 is not too common as a Welsh (or British) pattern. The furthest I can go back in my own female line is my great grandmother, and like all names on my chart, she was definitely south Welsh, with not a Pole or a Ukrainian in sight.

I should say by the way that I am not uncritically relying on these findings, which might be erroneous. But I have good reason to accept what I was told. In the paternal line, the results suggested individuals to whom I might be related, and I happen to know that those people and I share relatives with common surnames multiple generations back. There is no way a company could have cooked up such obscure, and uncannily accurate, findings. By extension then, I tend to trust the mitochondrial results.

My genealogy says one thing. My genetic information suggests something radically different.

Making life more difficult, in order to find the root of this genetic pattern, we would have to locate a woman, as only women carry MtDNA. We could not for instance assume an earlier woman in my ancestry who had a fling with a wandering Hungarian hussar in Napoleonic times. Nor, more seriously, can we invoke the many documented examples of skilled European workers traveling to Britain in early modern times, especially in pioneering Welsh industries like coal and iron. As far as I know, these visitors or migrants were all male.

So where does that U4 come from? I have an explanation not the right one, necessarily, but an interesting speculation.

Wouldnt it be wonderful if we could somehow place a woman from the Baltic/Slavic regions in South Wales in the pre-modern period, preferably very close to where my maternal family originated? Surely, that is a very tall order. Oddly enough, though, there is a historical window in which we can do something very much like that, and with remarkable geographical precision.

Over the past two centuries or so, my maternal family simply has not moved around much (Nor has my paternal line, but that is a different story). They have in fact remained within that small area of West Glamorgan, around Swansea and Neath, never really moving more than twenty miles or so in any direction. For the sake of argument, let us then assume they have in fact been in that small part of south Wales for centuries. Aha, but then we find an interesting connection. What we know about that area is that it is right next to one of the key regions of Scandinavian settlement in the British Isles in the Viking era, the ninth and tenth centuries.

The most important Scandinavian center in South Wales was Sweyns Inlet or Island, Sweyns-eye that is, Swansea. Its an open question whether Sweyn or Sveinn refers to a famous Norse king of that name, or just a lone adventurer. Near Swansea, Scandinavian names occur across the region of lower Gower, but not upper. The wonderful coastal landmark of the Worms Head in Gower is actually the head of the Ormr, Norse for a great Serpent (and it really looks like a sea serpent). A lot of the islands around the Welsh coast have pure Norse names like holm or -ey, as in Caldey. Flatholm is the Island of the Fleet. Such names scatter all across the coastal map to West Wales places like Tenby, another Scandinavian name.

Not only did the Norse name such places, but they and their descendants remained long enough to ensure that other people adopted and remembered the names. These areas were not just temporary camps: they were important enough to be real settlements, over decades or generations. At least along the coasts, the Vikings were there in force.

So what was the gender balance of these Scandinavian ventures? We tend to think of chiefs and raiders as all male communities, seizing local women, but there was more to the story. As settlements became more established, they might have brought wives or prospective (free) marriage partners. Over the years, archaeologists have recognized ever more examples of Scandinavian women buried in Britain. But other, more sinister, factors were also at work. As I say, we are looking at the 9th-10th centuries. At this very time, one of the worlds largest slave trading operations was centered on the Baltic Sea, particularly seeking out slaves from the Slav and Baltic peoples. The word slave comes from Slav, but Finland was another great center for slaves. There is a huge scholarly literature on all this.

Recent scholarship suggests that slavery and slave trading were a major incentive for the whole Viking enterprise, from the eighth century onwards. In a polygamous aristocratic society, lower status men found it hard to obtain wives within their own communities, driving them to seek women elsewhere, by force. Initially, they did this in Baltic lands like Estonia, but then mightily extended their reach. Following the rivers, some pushed deep into Russia, while others ventured into the Atlantic realms, but the basic goals remained the same. Reporting one major raid in 821, the Irish Annals of Ulster note that the heathens carried off a great number of women into captivity.

Gradually, isolated slave raids evolved into a transnational business operation that ranged across Europe, and took many slaves to the Islamic lands. Captives would have been kidnapped and taken to one of the great Swedish slave markets at Birka or Gotland, or Denmarks Hedeby. Scandinavians did much of the raiding, while Arab traders served as financiers and middlemen, and the distribution of these slave markets is indicated by the hoards of Arabic coins, dirhems, in trading centers like Birka.

A great many of those captives and slaves must have had U4 MtDNA. As we look at the map of lands where the U4 MtDNA pattern is most common, we also see the regions most heavily raided for their slaves precisely around this time.

Slave trading was thus a very large part of the economic life of the Viking world. Among other things, their enterprises ensured that large numbers of Irish and British slaves (thralls) ended up in early Iceland, where they have left a large genetic mark on the modern population. It would have been very natural for a Viking, maybe even the Sweyn who founded Swansea, to have had some slave girls along, whether as bed partners or as inventory for sale. In Iceland at least, some unfree women achieved the higher status of an acknowledged concubine, a frilla. Or possibly, a freeborn Norse woman brought along her unfree serving women and maids, even her nursemaid or her ladys maid. A female slave, by the way, was usually called an ambtt rather than a thrall. Over time, slaves might be freed and join the mainstream community.

Let us suppose that those unfree women had daughters, who intermarried with local Welsh men perhaps married, or else they were sexually exploited without their consent. They might have been sold, traded, or used as gifts. Whatever the exact process at work, any of these interactions would explain the importation of the U4 lineage into Wales.

Life for these slaves was as miserable as you might expect. In Norwegian law, slaves and thralls were described in the neuter gender: they were it rather than he or she, and were classified as just slightly superior to cattle. This is very much confirmed by the horrible portrayals of thralls that we repeatedly find in the large literature of the Icelandic sagas. But that observation leads to a major point about the nature of our historical evidence. Material evidence for free or aristocratic Scandinavian women is easy enough to find in the archaeological record, because they were deposited in substantial graves and accompanied by possessions such as brooches or other jewelry, or even weapons. Slave women, in contrast, owned nothing either in this world or in the grave, and their humble burials left very little for archaeologists to identify. You just did not bury rich grave goods when a slave woman an it died. We will likely never find material remains of Viking slaves in Britain. All they might have left just conceivably was their genes.

So could Baltic or Slavic girls have brought their MtDNA to South Wales? Very easily. Might my own maternal family even be descended from one of Sweyns slaves or concubines, someone from what we would now call Poland or Lithuania? I cant prove it, but it is plausible. If not Sweyn himself, there were lots of other comparable chieftains, who might have had girls recently imported from Birka or Gotland.

My suggestion, then, is that Slav-raiding and slave-trading are the main means by which U4 MtDNA found its way to the British Isles, and perhaps to other parts of Western Europe.

I am still puzzled by that eight-plus percent figure for my own East European blood, which goes far beyond a single woman a thousand years ago. And as I say, that element must have entered the bloodline well before the mid-nineteenth century. (Modern Wales has plenty of later migrants from that region, but they are not the explanation). I wonder: maybe those Vikings in Wales imported other slaves from the Baltic and eastern Europe, whose descendants merged completely into the local genetic mix. Their descendants perhaps became local Welsh families, called Jones or Evans, or Williams, or even Jenkins.

Even a handful of slaves leaving offspring could make a sizable genetic impact in such a tiny overall population. How many people did the whole of Wales have in, say, 1000 AD? Barely 100,000 in all? And perhaps 5,000 in West Glamorgan? Those were very small genetic pools.

What I can say confidently is that those Slavs or Balts did not originally migrate of their own accord.

For the regional context, see Michael North, The Baltic (Harvard 2015). On Viking society generally, see Jesse Byock, Viking Age Iceland (Penguin 2001). Kirsten A. Seaver has a chapter on Viking women slaves in her Thralls and Queens, in Gwyn Campbell, Suzanne Miers, and Joseph Calder Miller, eds., Women and Slavery (Ohio University Press, 2007), vol. 1: 147-167. See also Ruth Mazo Karras , Concubinage and Slavery in the Viking Age, Scandinavian Studies, 62 (1990) 141-162.

I have not read it yet, but Alice Rio has a forthcoming book on Slavery After Rome, on the period 500-1100 AD (Oxford University Press, 2017).

More here:
Of Slavs, Slaves, Vikings, and Genetics - Patheos (blog)

Genetics: A study shows which facial features are most likely to be … – Hindustan Times

Examining 3D face models of nearly 1,000 female twins, researchers have found that the shapes of the end of the nose, the area above and below the lips, cheekbones and the inner corner of the eye are highly influenced by genetics.

The notion that our genes control our face is self-evident. Many of us have facial traits that clearly resample those of our parents and identical twins are often indistinguishable, said lead researcher Giovanni Montana, Professor at Kings College London.

However, quantifying precisely which parts of the face are strongly heritable has been challenging so far, Montana said.

For the study, published in the journal Scientific Reports, the research team took scans of twins faces using 3D cameras and custom built statistical software to generate thousands of points that were perfectly aligned across the faces and then measured how curved each face looked at each one of those locations.

The researchers then compared how similar these measurements were between identical twins, who have the same genes, and non-identical twins, who only share half of the genes.

By seeing which parts of the face are the most similar in shape in a pair of identical twins, the researchers then calculated the likelihood that the shape of that part of the face is determined by genetics.

This likelihood is quantified as the heritability, a number between zero and one, where a larger number implies that it is more likely that the shape of the face is controlled by genes, the researchers said.

By combining 3D models of the face with a statistical algorithm that measures local changes in shape, we have been able to create detailed face heritability maps, Montana said.

These maps will help identify specific genes shaping up the human face, which may also be involved in diseases altering the face morphology, Montana added.

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Genetics: A study shows which facial features are most likely to be ... - Hindustan Times

Chemistry & Biochemistry | South Dakota State University

The Department of Chemistry and Biochemistry offers Bachelor of Science degrees in chemistry and biochemistry, a Master of Science degree in chemistry and Doctor of Philosophy degrees in chemistry or biochemistry.

The BS chemistry and biochemistry majors both meet the certification requirements of the American Chemical Society. Both majors are excellent preparation for medical, dental, veterinary, or chiropractic school admission. They provide training for students planning to attend graduate school or work in the chemical or biochemical industries. Students in both majors have the option of developing a specialization in secondary (high school) teaching, and students pursuing the chemistry major have the option of developing an emphasis in environmental chemistry or materials science.

The graduate programs in the department lead to the M.S. or Ph.D. degrees in chemistry or a Ph.D. degree in biochemistry. Research programs exist in analytical, biochemistry, chemical education, environmental, organic, and physical chemistry. All students admitted to the graduate program receive a full assistantship to support them during their studies.

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Chemistry & Biochemistry | South Dakota State University