Physiology

KSU professor to receive award from American Physiological Society – Manhattan Mercury (subscription)

Tim Musch, university distinguished professor of kinesiology, and anatomy and physiology, was selected for the 2018 Honor Award from Environmental and Exercise Physiology, or EEP, section of the American Physiologic Society.

This award reflects Muschs stature in the field and his contributions to the EEP section. The Honor Award recognizes a previous or current primary member of the EEP section who is 60 years of age or older and has made significant research contributions to the scientific advancement of environmental, exercise, thermal or applied physiology while making significant contributions to enhancing the objectives of the section.

Musch received his bachelors and masters degrees in physical education from the University of California, Berkeley in 1972 and 1974, respectively. He received his doctorate in exercise physiology from the University of Wisconsin, Madison in 1981, and completed a postdoctoral fellowship in cardiovascular research from Southwestern Medical School in Dallas, Texas, in 1984.

Today, Musch teaches exercise physiology on the Manhattan campus and is the co-director of the Cardiorespiratory Exercise Research Laboratory.

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KSU professor to receive award from American Physiological Society - Manhattan Mercury (subscription)

Physiology

Smart textiles to assess pilot physiology – TEVO – Textile Evolution (subscription)

Smart textiles to assess pilot physiology

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Physiology

WWU students find octopus study a garden of delights – Walla Walla Union-Bulletin

Id like to be under the sea

In an octopus garden in the shade

Hed let us in, knows where weve been

In his octopus garden in the shade

Ringo Starr, 1969, Octopuss Garden

Its all about octopuses this summer in Walla Walla University assistant professor of biology Kirt Onthanks lab. The images to the right are screen shots from his Octopodium YouTube Channel.

Anyone can follow along with Kirt and his students during the current session at the WWU Marine Biology Station at Rosario Beach in Anacortes, Wash. Subscribe to Octopodium at ubne.ws/2tIyi0Y,which has collections of videos from several seasons.

Kirts bio on the WWU website notes hes particularly interested in ecological physiology and behavioral ecology of marine invertebrates, especially cephalopods (squid, octopus and nautilus fall in this molluscan class).

All living things must bring to bear specific physiological adaptations to survive and thrive in the environments in which they find themselves. I am particularly interested how cephalopods physiology, which is similar to that of slugs, snails and clams, has enabled this group of marine invertebrates to be active, mobile predators that compete with vertebrates. I am also interested in adaptations, behavioral and physiological to dynamic, changing environments, such as hydrothermal vents, he said in his bio.

Etcetera appears in daily and Sunday editions. Annie Charnley Eveland can be reached at annieeveland@wwub.com or afternoons at 526-8313.

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WWU students find octopus study a garden of delights - Walla Walla Union-Bulletin

Physiology

Fit For You: Men vs. Women in Endurance Sports – WUWM

Lake Effect's Audrey Nowakowski with Dr. Sandra Hunter of Marquette University's Exercise Science Program.

The battle of the sexes has been long documented - especially in sports. Women have made tremendous strides in both novice and professional competitions, but the question of attaining a truly even playing field remains uncertain.

When it comes to sports performance, things are not equal. Men are generally stronger and faster than women thanks to their physiology. However there have been claims made over the years that the longer an event goes -- think ultra-marathon or even longer -- the more advantages women have over men.

Women have broken through to either win or set records in major endurance competitions such as ultramarathons, World's Toughest Mudder, and the Trans Am. But are these victories exceptions rather than the rule? Dr. Sandra Hunter of Marquette University's Exercise Science Program has been studying the sex differences in sports for more more than two decades - long enough to compile a great deal of data.

She states that overall, in most sports that require power or some type on endurance, the best men will always outperform the best women. There is overlap where a lot of women can perform better than men, says Hunter, but "in terms of endurance, the maximal oxygen consumption - that capacity for men is better due to larger hearts, bigger muscle mass, more hemoglobin, and less body fat to carry."

If women aren't competing at the same rates and the participation is less, we really won't and don't understand the true physiological sex differences and what's relevant for women.

Hunter notes that there is about a 10-12% difference in world records between men and women across the board. "That's just the bottom line, and it's always going to make it difficult for women to outdo men."

Her researchshows that while men may succeed more in endurance sports, women are less fatigue-able than men if you get them to perform a very particular exercise at the same intensity as a man. Women's arms and lower limb muscles consistently outperform men's due to the different makeup of muscle fibers. "Women on average have more fatigue resistant muscle fibers then men," says Hunter.

There are two approaches to understanding the sex difference, according to Hunter: one is to bring men and women into the research laboratory to research physiology, and the other approach is to take real-world performance data and try to understand physiology based on that data.

The latter method of research is not as accurate because the records of women's performances in sporting events have not been compiled as long as men's. Hunter notes that women could not officially compete in marathons until the 1970s, therefore the amount of records compiled is clearly not equal.

"The reality is you get less women and less men competing in those [endurance] events, so you get more of these anomalies that occur," notes Hunter.

She also states that women are not studied or included in research as often as men. This not only has big implications for sports research, but for medical research as well. Hunter says that some male researchers she has met express their reluctance to study women because they are uncomfortable in dealing with menstrual cycles. She says the menstrual cycle in fact has very little impact on a woman's performance.

"The differences across the menstrual cycle for a woman...are much less than the differences between men and women," Hunter explains. "They're just small fluctuations and they really have very limited effect on some of the more pertinent issues of strength and fatigue-ability. So I think it's more perception and that we just have got to start including women more than men in a lot of these studies."

Another claim Hunter has proven wrong is the notion that men are more competitive than women. "We do studies in my lab where we actually measure the ability of the brain to activate the muscle, and there's zip differences between men in women. That in fact women are equally motivated to perform maximal contractions just as much as men are," says Hunter. She notes that women try just as hard as men, but women also historically have had fewer opportunities to participate in exercise and some sports events such as the marathon. Hunter adds that women in general tend to participate less in exercise than men, although it's not clear why. It could be attributed to the myriad of other responsibilities and priorities that men may not share in their daily lives.

It's not like women are less than men or men are less than women. I talk about this not because I think women are more important, but because they're just as important.

Just as motivation doesn't differ between the sexes, nor does the age at which men and women peak in performance. According to Hunter, the average age of peak performance is 29 for both men and women. She came upon this discovery after a Runners World journalist asked her about age and performance after the 2008 Beijing Olympics - the woman who won the marathon was 38 years old while the man was only 21 years old.

Hunter says the real issue is not about definitively proving which sex is "better" through physiological tests. The bottom line is "if women aren't competing at the same rates and the participation is less, we really won't and don't understand the true physiological sex differences and what's relevant for women."

Only time will tell whether the sex difference can be measured appropriately once men and women are equally incorporated in competitive sports. "Then we'll really see what those differences are," says Hunter. "And those differences should be celebrated. It's not like women are less than men or men are less than women. I talk about this not because I think women are more important, but because they're just as important. And I think that is a really key thing to remember."

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Fit For You: Men vs. Women in Endurance Sports - WUWM

Biochemistry

Ursinus College gets biochemistry grant from National Science foundation – The Times Herald

COLLEGEVILLE >> U.S. Rep. Ryan Costello, R-6th Dist., visited Ursinus College on July 6 to announce a National Science Foundation grant.

The grant was in the amount of $28,531 for the project, Collaborative Research, which is researching using protein function prediction to promote hypothesis-driven thinking in undergraduate biochemistry education.

Costello, a member of the STEM Caucus, had the opportunity to meet with Rebecca Roberts, an associate professor of biology, and biochemistry and molecular biology at Ursinus College, as well as several students to hear about their research projects.

Im pleased to see students in our community will benefit from a grant that will enable first-hand experiences to encourage them to think like a scientist and, in turn, explore opportunities in STEM education. This grant will also help faculty understand how students learn from these techniques, Costello said in a prepared release.

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I am aiming to provide even greater opportunities for Ursinus students to experience authentic research by bringing research into their courses. As part of a collaboration with faculty from across the country, I have helped develop a project that challenges students to discover functions for proteins of known structure but with currently unknown function. This grant from the National Science Foundation will allow us to continue to engage our students in this project and to evaluate the impact of the experience on their growth as scientists, said Roberts.

Costello recently signed a bipartisan letter to the House Appropriations Committee requesting robust, continued funding for the NSF in the upcoming 2018 Fiscal Year, and has introduced and supported several pieces of legislation to support students who choose STEM fields.

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Ursinus College gets biochemistry grant from National Science foundation - The Times Herald

Biochemistry

Geneticist and Rockefeller emeritus Peter Model dies at 84 – The Rockefeller University Newswire

A champion of modern molecular genetics, Model asked questions that changed the way research was conducted. (Photo by Ingbert Grttner, 1988)

Peter Model, an emeritus faculty member who spent the major part of his career at The Rockefeller University, died on June 9 at the age of 84, after a brief period of declining health. Model used genetics, biochemistry, and molecular biology to study the f1 phage, a type of virus that infects Escherichia coli bacteria. His work provided valuable details about the way genes express themselves and control one another.

Peter brought an incisive, inquisitive mind to his research, and was often responsible for the astute question that would push an investigation in the right direction, noted Rockefeller President Richard P. Lifton in a message to university faculty and staff. He enjoyed the camaraderie of his fellow scientists, served as an informal mentor to many junior faculty members who sought his advice, and was an active member of the Rockefeller community until very recently.

Born in Frankfurt in 1933 during the rise of the Nazis, Model and his parents escaped in 1942 to settle in New York. As a young man, he studied economics at Cornell University and Stanford University, served in the United States Army as a first lieutenant, and worked in his fathers investment banking business for a period before earning a Ph.D. in biochemistry from Columbia University.

Peter was a remarkable person who straddled many worlds, says Jeffrey V. Ravetch, Theresa and Eugene M. Lang Professor and head of the Leonard WagnerLaboratory of Molecular Genetics and Immunology at Rockefeller, who was a student in Models lab in the mid-1970s. Perhaps because of his background in economics and finance, he had a different way of looking at things, and he became a great champion of using new approaches in the lab. He was viciously smart, and he always valued substance over style.

When many other people began working with mammalian systems, Peter stuck to his focus on bacterial genetics and remained true to the essence of microbial systems, Ravetch adds. He saw that they would continue to yield valuable discoveries.

Model arrived at Rockefeller in 1967, joining the laboratory of the late Norton Zinder as a postdoctoral fellow. Named assistant professor in 1969 and associate professor in 1975, he was promoted to full professor in 1987. He and Zinder worked closely together in the laboratory, and Model became co-head of the lab in 1987. From 1992 to 1995, he also served as associate dean of curriculum under deans Bruce McEwen and later Zinder.

Bacterial viruses, or phages, are among the simplest of biological entities and contain only a handful of genes. Models work with them opened a number of new lines of research. He championed the use of several modern molecular genetic techniques, and used these methods to examine, among other things, how phage proteins translocate across bacterial membranes. He developed phage display, which became a widely used method for identifying interactions between proteins. Using this and other techniques, he explored key biochemical processes in the lifecycles of phages.

Models strong commitment to the education and training of younger scientists led him to serve as the primary advisor for a number of graduate students and postdocs during his tenure at Rockefeller.

Peter had a way of asking questions that could change the direction of research, says his wife, Rockefeller associate professor Marjorie Russel, with whom he collaborated. He was famous for incorporating his knowledge from diverse areas and putting everything together in ways that no one else had ever thought of before. Often, after talking to Peter, his students and colleagues would go back to their lab benches with completely new ideas about what to do and where to go with their research.

In addition to his wife, Model is survived by his children, Paul and Sascha; his brother, Allen; and four grandchildren, as well as many other relatives and friends.

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Geneticist and Rockefeller emeritus Peter Model dies at 84 - The Rockefeller University Newswire

Biochemistry

Spread of breast cancer reduced by targeting acid metabolite – Medical Xpress

(From left are) Drs. B.R. Achyut; Thaiz F. Borin, postdoctoral fellow and a corresponding author; and Ali S. Arbab. Credit: Phil Jones

It's a metabolite found in essentially all our cells that, like so many things, cancer overexpresses. Now scientists have shown that when they inhibit 20-HETE, it reduces both the size of a breast cancer tumor and its ability to spread to the lungs.

"The drug is reducing the ability of cancer cells to create a distant microenvironment where they can thrive," said Dr. Ali S. Arbab, leader of the Tumor Angiogenesis Initiative at the Georgia Cancer Center and a professor in the Department of Biochemistry and Molecular Biology at the Medical College of Georgia at Augusta University.

Arbab notes that cancer cells are constantly doing test runs, sending cells out into the bloodstream to see if they will take hold. About 30 percent of patients with breast cancer experience spread, or metastasis, of the disease. The most common sites are the lymph nodes, liver, bones and brain, as well as the lungs.

For the preclinical studies by postdoctoral fellow, Dr. Thaiz F. Borin, published in the journal PLOS ONE, the scientists used the drug HET0016, a 20-HETE inhibitor developed to learn more about the metabolite's many functions.

While not ready to say that the drug has potential use in humans, Arbab says the work points toward a new and logical target for reducing tumor spread. He notes that there are already drugs out there, including some over-the-counter anti-inflammatory drugs, which may also inhibit this overexpressed and now destructive pathway.

20-HETE - 20-Hydroxyeicosatetraenoic acid - is a metabolite of arachidonic acid, a fatty acid we make and constantly use for a wide variety of functions like helping make lipids for our cell membranes. 20-HETE also has a wide range of normal functions, including helping regulate blood pressure and blood flow. It's also a known mediator of inflammation, which under healthy conditions can help us fight infection and protect us from cancer and other invaders.

"There is normal function and there is tumor-associated function," says Dr. B.R. Achyut, cancer biologist, assistant professor in the MCG Department of Biochemistry and Molecular Biology and a study coauthor. "Tumors highjack our system and use that molecule against us."

In fact, Arbab's research team has shown that the high production of 20-HETE that occurs in cancer becomes an unwitting provider of almost everything cancer needs to prepare a place to comfortably spread.

Scientists call it the "seed and soil" hypothesis. To spread, cancer cells must detach from the primary site, in this case breast tissue, get aggressive enough to survive travel, gather supporting tissue and blood vessels where they land, take seed and eventually colonize the distant site, in this case, the lungs.

Arbab and his team have shown 20-HETE appears to help prepare this distant site by activating things like protein kinases that can change the function of proteins, their location and what cells they associate with, as well as growth factors that can make cells grow in size, proliferate and differentiate. It can even help make blood vessels, which a tumor will need once it reaches a certain size. 20-HETE also activates signaling kinases that enable cell division. It encourages inflammation-promoting factors like tumor necrosis factor alpha and several of the interleukins, another class of proteins that help regulate the immune response. In this scenario, they are turning up inflammation, which is a hallmark of cancer and other diseases.

"We are going after that tumor microenvironment," says Arbab.

For their studies, they put human breast cancer cells and mouse mammary tumor cells in the mammary fat pad of mice, waited for the cancer to take hold and begin to spread, then intravenously gave mice HET0016 five days per week for three weeks.

They found HET0016 reduced the migration and invasion of tumor cells: 48 hours after the drug was given, cancer cells were less able to move about in small test tubes. The drug also reduced levels of metalloproteinases in the lungs, enzymes that can destroy existing protein structures, so that, in this case, cancer cells can penetrate the area and new blood vessels can grow. It also reduced levels of other key inhabitants of a tumor microenvironment like growth factors as well as myeloid-derived suppressor cells that can help shield cancer from the immune system. "It gets rid of one of the natural protections tumors use, and tumor growth in the lung goes down," Arbab notes.

He, Achyut and their colleague Dr. Meenu Jain, assistant research scientist, reported earlier this year in the journal Scientific Reports that the drug also reduced tumor growth and prolonged survival in an animal model of the highly lethal, rapidly growing and vascular brain tumor, glioblastoma. That finding and related work got the scientists wondering if the research drug - or something similar - could one day help control the typically deadly spread of cancer.

Now they are looking at exosomes, traveling packages all cells send out as a way to communicate and swap substances. In the case of cancer cells, exosomes appear to be packed with items needed to build the supportive environment for their new distant location in the lungs or elsewhere. Once exosomes establish a niche, they send back a signal to the primary site for cancer cells to join them. The scientists want to further pursue the ability of HET0016 to block these cancer-derived packages.

20-HETE's co-opting by cancer has it emerging as a focal point for cancer treatment, says Arbab who has published more than half of the 20-HETE-related studies on the rapidly emerging topic.

Explore further: Cells that make blood vessels can also make tumors and enable their spread

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Spread of breast cancer reduced by targeting acid metabolite - Medical Xpress

Biochemistry

NIH awards $20 million to UVM and Maine Medical to address rural health challenges – Vermont Biz

Vermont Business Magazine The Northern New England population will be the beneficiary of a new partnership between academic medical centers and primary care practices in rural communities, which will focus on health problems endemic to the region, including cancer, cardiovascular disease, substance abuse, as well as the unique challenges of effective rural health care delivery. A five-year, $20 million National Institutes of Health (NIH) Clinical and Translational Research (CTR) Network grant will fund a joint program between the University of Vermont (UVM) and Maine Medical Center in Portland, Maine to develop and sustain a clinical and translational research infrastructure improving rural and community health for residents of Vermont, New Hampshire and Maine. The grant, awarded through the federally-funded IDeA program, enhances research efforts in states where NIH funding levels have traditionally been lower and rural and medically-underserved communities are a priority.

The program will be collaboratively led by principal investigators Gary Stein, Ph.D., UVM Cancer Center director and Department of Biochemistry chair, and Clifford Rosen, M.D., senior scientist at Maine Medical Center Research Institute. UVM Larner College of Medicine Senior Associate Dean for Research Gordon Jensen, M.D., Ph.D., and Thomas Gridley, Ph.D., interim director of the Center for Molecular Medicine at Maine Medical Center Research Institute, will serve as the grants program coordinators.

According to Jensen, Vermont, New Hampshire and Maine have a similar geographic distribution of patients. This will allow participating primary care physicians to work in partnership with academic medical centers to carry out the programs research initiatives and to meet the needs and challenges throughout the northern New England region.

As a cancer center director, Stein emphasizes the capabilities of the networks six program components to address the underlying causes of the regions greatest health threats from multiple perspectives using a rich variety of expertise and collaborative resources and to make related diseases preventable and treatable.

This grant will allow us to investigate the most effective ways to address shared health care issues, said Stein. The program will derive great benefit from maximally engaging the breadth of expertise we have at the University in concert with our primary care partners.

UVM faculty will co-lead five of the six program areas with faculty from Maine Medical Center. Jan Carney, M.D., M.P.H., associate dean for public health, will co-lead Rural Health Research and Delivery; Frances Carr, Ph.D., professor of pharmacology, will co-lead Translational Research Technologies; Bernard Cole, Ph.D., professor of mathematics and statistics, will co-lead Clinical Research Design, Epidemiology; Jane Lian, Ph.D., professor of biochemistry, will co-lead the Pilot Projects Program; and Kim Luebbers, M.S.H.S., R.N., assistant dean for clinical research, will co-lead Professional Development, Clinical Research Design, Epidemiology. The Tracking and Evaluation program will be led by faculty from the University of Southern Maine.

This $20 million grant reinforces confidence in the tremendous resource that is provided by the Universitynot just in education, but in promoting and protecting the overall health and well-being of our citizens, said Vermont Health Commissioner Mark Levine, MD.Collaborations with the Department of Health will leverage these capabilities to make a difference for Vermonters wherever they live.

Source: UVM 7.12.2017

VBM vermontbiz.com

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NIH awards $20 million to UVM and Maine Medical to address rural health challenges - Vermont Biz

Genetics

Genetics plays major role in how infants visually explore social world, twin study reveals – News-Medical.net

July 12, 2017

New research has uncovered compelling evidence that genetics plays a major role in how children look at the world and whether they have a preference for gazing at people's eyes and faces or at objects.

The discovery by researchers at Washington University School of Medicine in St. Louis and Emory University School of Medicine in Atlanta adds new detail to understanding the causes of autism spectrum disorder. The results show that the moment-to-moment movements of children's eyes as they seek visual information about their environment are abnormal in autism and under stringent genetic control in all children.

The study is published online July 12 in the journal Nature.

"Now that we know that social visual orientation is heavily influenced by genetic factors, we have a new way to trace the direct effects of genetic factors on early social development, and to design interventions to ensure that children at risk for autism acquire the social environmental inputs they need to grow and develop normally," said lead author John N. Constantino, MD, the Blanche F. Ittleson Professor of Psychiatry and Pediatrics at Washington University. "These new findings demonstrate a specific mechanism by which genes can modify a child's life experience. Two children in the same room, for example, can have completely different social experiences if one carries an inherited tendency to focus on objects while the other looks at faces, and these differences can play out repeatedly as the brain develops early in childhood."

The researchers studied 338 toddlers ages 18 to 24 months using eye-tracking technology, developed at Emory, allowing them to trace young children's visual orientation to faces, eyes or objects as the children watched videos featuring people talking and interacting.

The children, who were part of the Missouri Family Registry, a database of twins that is maintained at Washington University School of Medicine, included 41 pairs of identical twins -; such twins share 100 percent of their DNA -; and 42 sets of fraternal twins -; who share only about 50 percent of their DNA. In addition, the researchers studied 84 unrelated children and 88 children diagnosed with autism spectrum disorder.

Constantino, with fellow investigators Warren R. Jones, PhD, and Ami Klin, PhD, of Emory University School of Medicine, evaluated the eye-tracking data. Each twin was tested independently, at different times, without the other twin present.

How much one identical twin looked at another person's eyes or face was almost perfectly matched by his or her co-twin. But in fraternal twins, eye movements in one twin accounted for less than 10 percent of the variation in the eye movements of his or her co-twin. Identical twins also were more likely to move their eyes at the same moments in time, in the same directions, toward the same locations and the same content, mirroring one another's behavior to within as little as 17 milliseconds. Taken together, the data indicate a strong influence of genetics on visual behavior.

"The moment-to-moment match in the timing and direction of gaze shifts for identical twins was stunning and inferred a very precise level of genetic control," said Constantino, who directs the William Greenleaf Eliot Division of Child and Adolescent Psychiatry at Washington University. "We have spent years studying the transmission of inherited susceptibility to autism in families, and it now appears that by tracking eye movements in infancy, we can identify a key factor linked to genetic risk for the disorder that is present long before we can make a clinical diagnosis of autism."

The effects persisted as the children grew. When the twins were tested again about a year later, the same effects were found: Identical twins remained almost perfectly matched in where they looked, but fraternal twins became even more different than they were when initially evaluated.

Autism spectrum disorder is a lifelong condition that affects about 1 in 68 children in the United States. It is known to be caused by genetic factors, and earlier work by the Emory University team had shown that babies who look progressively less at people's eyes, beginning as early as 2-6 months of age, have an elevated risk for autism. Meanwhile, Constantino and others in the group have studied how subtle behaviors and symptoms that characterize autism aggregate in the close relatives of individuals with autism, as a way to identity inherited susceptibilities that run in families and contribute to autism risk.

"Studies like this one break new ground in our understanding of autism spectrum disorder: Establishing a direct connection between the behavioral symptoms of autism and underlying genetic factors is a critical step on the path to new treatments," said Lisa Gilotty, PhD, chief of the Research Program on Autism Spectrum Disorders at the National Institute of Mental Health, which provided support for the study in tandem with the Eunice Kennedy Shriver Institute of Child Health and Human Development.

Those new treatments could include interventions that motivate very young children to focus their gazes more on faces and less on objects.

"Testing infants to see how they are allocating visual attention represents a new opportunity to evaluate the effects of early interventions to specifically target social disengagement, as a way to prevent the most challenging disabilities associated with autism," said senior author Warren R. Jones, PhD, director of autism research at the Marcus Autism Center at Emory. "Such interventions might be appropriate for infants showing early signs of risk or those who have been born into families in which autism has affected close relatives. In addition, learning why some infants who tend to not look at eyes and faces develop without social disability is another priority."

The small percentage of healthy children who tended to avoid looking at eyes and faces may provide researchers with insight on how to successfully compensate for those tendencies and therefore inform the development of higher-impact interventions that will produce the best possible outcomes for infants with inherited susceptibility to autism.

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Genetics plays major role in how infants visually explore social world, twin study reveals - News-Medical.net

Genetics

Genetics and Genomics in Racing: Speed Isn’t Everything – TheHorse.com

Testing mares and stallions can help ensure foals are born free or at low risk of some genetic diseases.

Photo: iStock

Genetics refers to the study of genes and the way traits of conditions are passed down from one generation to another. Genomics, on the other hand, describes the study of all genes (the genome) including interactions of genes with each other and the environment. Although much of the genetic and genomic research done in Thoroughbreds is applied to racing performance, the full breadth of application of genetic and genomic research goes beyond that of faster horses.

Genetics and genomics allow for a more complete understanding of both simple and complex diseases. From a genetic perspective, simple is a term used to describe a disease that follows a single gene pattern of inheritance. These diseases are controlled by one gene, with other genes and outside factors having very little influence (i.e., the presence of the gene = disease). Diseases inherited this way are typically qualitative, where an animal either has the disease or it doesnt (i.e., lethal white foal syndrome).

Complex diseases, on the other hand, are usually controlled by not one, but many different genes and are often affected by environmental factors, such as nutrition and living conditions (e.g., cervical vertebral stenotic myelopathy, or wobbler syndrome). This combination of both genetic and environmental factors results in complex or multifactorial diseases. Basically, three different scenarios determine the manifestation of a complex disease:

As a result, complex genetic diseases can be extremely difficult to diagnose early and/or prevent using tradition methods such as pedigree analyses and veterinary evaluations. In some instances, a simple disease might even be classified as complex based on the inability of epidemiological studies and pedigree analyses to find common factors among cases.

Hydrocephalus, for example, is a developmental disorder that often results in stillbirth of foals and dystocia (difficult birth) in dams. Possible causes of the defect in horses could not be prove based on field data and pedigree analyses suggested the disorder to be complex. With this in mind, a genomic scan of 82 horses (13 cases and 69 controls) was performed and a small section of the genome was identified. Genomic sequencing was then performed on 10 horses (four cases and six controls) and the genetic cause of the disorder was pinpointed.

Figure 1

Two copies of a mutation that changes a "C" nucleotide to a "T" nucleotide results in hydrocephalus.

Photo: Equine Disease Quarterly

Ultimately, two copies of a mutation that changed a C nucleotide to a T nucleotide (Figure 1) resulted in the disorder. Although previously believed to be a complex disease, genetic and genomic methods were able to prove that the disorder was, in fact, simple, leading to the development of a genetic test that can help breeders avoid the disorder.

It is important to note the difference between a genetic test of a simple disease, such as hydrocephalus, and a genetic test for a complex disease (e.g., osteochondrosis). Genetic tests for simple diseases can confirm or rule out a genetic condition; however, genetic tests for complex diseases only help to determine an individuals chance of developing a genetic disorderan important distinction when genetic tests are used to help make breeding decisions. In either scenario, genetics and genomics in Thoroughbreds have far-reaching potential beyond that of breeding and selecting faster horses.

Understanding diseases caused by a single gene as well as complex diseases caused by multiple genes and the environment can lead to early diagnosis and targeted treatments. While the list of reasons a racehorse never reaches its potential might seem endless, genetics and genomics provide an opportunity to cross certain disorders off that list, thereby helping to eliminate or reduce the occurrence of those diseases.

CONTACTBrandon D. Velie, MS, PhDbrandon.velie@slu.seSwedish University of Agricultural Sciences Department of Animal Breeding and Genetics, Uppsala, Sweden

This is an excerpt from Equine Disease Quarterly, funded by underwriters at Lloyds, London.

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Genetics and Genomics in Racing: Speed Isn't Everything - TheHorse.com