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Genetics

Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever – Nature.com

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Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever - Nature.com

Genetics

Secrets of human genetics could optimize medical care – Earth.com

In a study that bridges human evolution and modern medicine, researchers have shed light on the genetic marvels of adaptation among high-altitude populations. The research may ultimately pave the way for innovative approaches in treating respiratory diseases.

The study was led by Dr. Tatum Simonson, founder and co-director of the Center for Physiological Genomics of Low Oxygen at the University of California School of Medicine.

In Dr. Simonsons lab at UC San Diego, her team set out to investigate whether there may be a genetic explanation for why some people with sleep apnea or pulmonary diseases such as chronic obstructive pulmonary disease (COPD) fare better than others.

There are people with COPD who breathe a lot and maintain a higher oxygen saturation. Others with the same disease dont breathe as much, and their oxygen saturation is low, said Dr. Simonson.

Researchers suspect there may be genetic differences underlying this variation, similar to the variation we find in pathways important for oxygen sensing and responses underlying natural selection at high altitude.

The research is centered around the discovery of a genetic variant that is prevalent among certain Andean populations. These individuals possess an extraordinary ability to thrive in the oxygen-scarce environments of high altitudes.

The genetic variant, associated with a lower red blood cell count, stands as a testament to human adaptability, revealing how specific populations have evolved to evade the potentially lethal condition known as excessive erythrocytosis (EE). This condition characterized by an overproduction of red blood cells poses significant risks, including increased blood viscosity that can lead to stroke or heart failure.

The researchers analyzed the regulation of the EPAS1 gene, which is instrumental in managing hemoglobin concentrations and the bodys response to low oxygen levels.

The EPAS1 gene is critical for the survival of mountain-dwelling Tibetans against the adverse effects of high altitudes. It has been inherited from ancestors who intermingled with archaic human populations tens of thousands of years ago.

The team has now identified a distinct mutation within the EPAS1 gene that is exclusive to Andeans. By analyzing Andean genomes, the researchers found that the genetic change which alters only a single amino acid in the protein product happened by chance about 9,000 to 13,000 years ago and spread very quickly through hundreds of generations within the Andean population.

Similar to Tibetans, the EPAS1 gene is associated with lower red blood cell count in Andeans. However, it works in a completely different way. The Andean variant alters the proteins genetic makeup rather than its expression levels.

Tibetans have, in general, an average lower hemoglobin concentration, and their physiology deals with low oxygen in a way that doesnt increase their red blood cells to excessively high levels. Now we have the first signs of evidence that Andeans are also going down that path, involving the same gene, but with a protein-coding change. Evolution has worked in these two populations, on the same gene, but in different ways, said Dr. Simonson.

This discovery not only underscores the diverse evolutionary strategies employed by humans to adapt to extreme environments but also highlights the potential for these genetic insights to inform medical practices. By understanding the mechanisms through which these adaptations occur.

This paper shows one gene associated with one particular phenotype, but we think there are many different genes and components of oxygen transport involved, said Dr. Simonson. Its just one piece of that puzzle, and could provide researchers with information relevant to other populations.

In precision medicine, its important to recognize variation in genetic backgrounds, specifically in historically understudied populations.

If we can find some shared genetic factors in populations in an extreme environment, that may help us understand aspects of health and disease in that group and groups more locally. In that way, this study aims to push research forward, and towards comprehensive personalized medicine approaches in clinics here in San Diego.

The study is published in the journal Science Advances.

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Secrets of human genetics could optimize medical care - Earth.com

Genetics

Significance of genetic mutations in toxic tort cases – Rhode Island Lawyers Weekly

The primary question in many toxic tort cases is what caused the disease? When defending these cases, one necessarily asks: (1) is the product/substance I am defending capable of causing the disease in question; and (2) was the plaintiff exposed to enough of it to have done so.

With cases involving cancer, particularly mesothelioma, genetic science is adding to the mix and providing information that, in the right case, changes the equation entirely.

Generally, cancer is a genetic disease caused by gene mutations that control how cells grow and multiply (NIH The Genetics of Cancer, 2022). While cells are the bodys building blocks, genes are sections of DNA in each cell that provide instructions to make required proteins and control cell growth. Hundreds of DNA and genetic changes (variants, mutations or alterations) have been discovered that help cancer form, grow and spread.

My experience with these issues arises from the defense of asbestos cases. The principles raised, however, may well apply to other toxic torts involving cancer.

It is now recognized that there are multiple causes for malignant mesothelioma, a number of which are unrelated to asbestos. Diffuse malignant mesotheliomas are variably associated with prior asbestos exposure, and the strength of the association varies with anatomical tumor site, gender and asbestos fiber type.

The relationship between asbestos and mesothelioma has also evolved and shows significant geographic variation. The epidemiological evidence correlating time trends, incidence by gender, and commercial asbestos use indicates that a majority of pleural mesotheliomas in women, and almost all peritoneal mesotheliomas in women and men, in the United States, appear unrelated to asbestos.

If not asbestos, then what was the cause?

In July 2019, many of the worlds foremost experts on the subject detailed the current state-of-the-art knowledge on the development of mesothelioma. See Carbone, et al., Mesothelioma: Scientific Clues for Prevention, Diagnosis, and Therapy, CA Cancer J Clin., 69:402-429 (2019).

Among the co-authors of the publication were preeminent researchers and practitioners from the University of Hawaii Cancer Center, Memorial Sloan Kettering Cancer Center, Rutgers Robert Wood Johnson Medical School, Brigham and Womens Hospital, Mayo Clinic, Icahn School of Medicine at Mount Sinai, and MD Anderson Cancer Center. Under a section of the publication entitled The Role of Genetics, the authors state:

Cancer is caused by the accumulation of genetic damage. Genetic damage can be inherited, can develop spontaneously, can be caused by exposure to carcinogens and oncogenic infectious agents, or can be caused by the interplay of a combination of these factors. Currently, there is a very active debate about the relative contribution of these factors to human cancer . [A] growing percentage of cancers are attributed to inherited mutations of DNA repair genes and of other genes that, when mutated, accelerate the accumulation of DNA damage and/or the percentage of cells carrying DNA damage . These concepts apply to mesothelioma.

In broad strokes, there are two types of genetic cases: (1) cases involving somatic or random genetic mutations; and (2) cases involving a germline genetic mutation.

Somatic random mutations develop because of DNA changes that occur during stem cell divisions. These mutations arise naturally and accumulate as a person ages. Age is a significant risk factor for almost all forms of cancer, including spontaneous or naturally occurring mesothelioma.

The basis for age-induced tumorigenesis relates to the hosts generation of critical driver mutations within cells and the subsequent formation of clonally expanded proliferation of mutated cells to form tumors. Stem cell division occurs continuously and requires a faithful replication of the highly complex genetic information contained within the genome and cell nucleus.

Random mistakes or mutations (replication errors) occur continuously and with increasing frequency over time, with the capacity of the host to efficiently identify and correct such mutations diminishing with age.

Because mutation accumulation occurs spontaneously and continuously over time, the risk of spontaneous or naturally occurring mesothelioma, either pleural or peritoneal, increases continuously with age.

Random mutations account for two-thirds of the risk of getting many types of cancer. In such cases, no exposure to an exogenous agent (such as asbestos or therapeutic radiation) is required for tumor initiation. Replicative mutations can be responsible for either initiating the process or driving tumor progression.

The current best available scientific evidence is that some mesotheliomas are linked to inherited germline mutations. Overall, at least 12 percent of mesotheliomas occur in carriers of germline genetic mutations. These germline genetic-induced mesotheliomas typically occur in persons of younger age and are often peritoneal rather than pleural mesotheliomas.

As the cohorts of asbestos workers vanish due to old age, increasing percentages of mesotheliomas, especially peritoneal mesotheliomas, occur in individuals who are not occupationally exposed to asbestos. These mesotheliomas may be caused by environmental exposure, genetic predisposition or both.

When examining a toxic tort/cancer case, it may not always be the environment or the toxin that is the culprit. If a plaintiff has an appropriate family history of cancer, genetic testing may provide a viable defense. Anthony J. Sbarra, Segal McCambridge

Pathogenic germline mutations of BAP1 and, less frequently, of other tumor suppressor genes have also been detected in approximately 12 percent of patients. This subgroup of genetically linked mesotheliomas occurs in younger individuals who rarely report asbestos exposure, and with a M:F ratio of 1:1 and survival ranging from five to 10 or more years.

While heritable gene mutations can predispose an individual to cancer (i.e., lower the amount of exposure necessary to cause disease), they can also be sufficient to cause cancers, including mesothelioma, in and of themselves.

Put another way, the presence of a heritable germline mutation, absent or independent of extrinsic factors such as asbestos exposure, can be a cause of mesothelioma.

While the import of these findings may be largely self-evident, there are some takeaways worth considering. First, when examining a toxic tort/cancer case, it may not always be the environment or the toxin that is the culprit. If a plaintiff has an appropriate family history of cancer, genetic testing may provide a viable defense.

Second, genetic germline mutations do not automatically turn a plaintiff into an eggshell plaintiff. While that argument may work in some cases, given that the mutation can be independently causative, it should not apply in all of them.

Anthony J. Sbarra is a shareholder at Segal McCambridge in Boston and focuses his practice on product liability and toxic tort cases. He can be contacted at [emailprotected].

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Significance of genetic mutations in toxic tort cases - Rhode Island Lawyers Weekly

Genetics

The Role of Genetics and Maternal Factors in Retinopathy of Prematurity: A Comparative Study – Medriva

Retinopathy of Prematurity (ROP) is a significant cause of childhood blindness globally and its incidence is on the rise. Understanding the underpinnings of this disease can help us identify potential interventions for ROP. A recent study conducted in Argentina evaluated genetic variants associated with the risk of ROP in premature newborns and compared them with data from other populations. This article will delve into the findings of this study and explore the role of maternal risk factors and genetics in the development of ROP.

The sample for this study included 437 premature infants, of which 75 had ROP and 362 did not. The study aimed to identify maternal risk factors for ROP and analyzed perinatal outcomes. The genetic analysis of these infants involved 14 single nucleotide polymorphisms (SNPs) using a family-based association study approach. The study did not apply the Bonferroni correction test due to its exploratory nature. The researchers also analyzed comorbidities in ROP newborns by creating a network graph to represent associations between events.

Genetic factors play a crucial role in the risk of developing ROP. One of the genes that has been associated with ROP is the methylenetetrahydrofolate reductase (MTHFR) gene. This gene has several isoforms and plays a role in various pathways and interactions. Understanding the variants of this gene can help identify infants at risk of developing ROP.

Along with genetic factors, maternal factors also contribute significantly to the risk of ROP. Identifying these risk factors can help in early intervention and prevention of ROP. The study identified several maternal risk factors including preterm birth, low birth weight, and prenatal complications among others. Understanding these factors can help in developing strategies to reduce the risk of ROP.

Recent research has highlighted the potential of adenosine A2A receptors (A2AR) as a target for early intervention of ROP. A2AR plays a pivotal role in ROP and pharmacological targeting of A2AR signaling may provide an early intervention strategy with distinct therapeutic benefits and mechanisms than the anti-VEGF therapy. Further research is necessary to validate the potential of A2AR in ROP intervention.

This study emphasizes the importance of genetic and maternal factors in the development of ROP. Understanding these factors and their interplay can pave the way for early interventions and better management of ROP. In addition, the potential of A2AR in ROP intervention needs to be further explored. As we continue to expand our knowledge about ROP, we can hope to reduce the incidence of this disease and improve outcomes for premature infants.

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The Role of Genetics and Maternal Factors in Retinopathy of Prematurity: A Comparative Study - Medriva

Genetics

‘The Idea That Who You Are Is Only Genetics Is the Essence of Evil’ – Books – Haaretz

News Life and Culture Columnists and Opinion Haaretz Hebrew and TheMarker Partnerships

Haaretz.com, the online English edition of Haaretz Newspaper in Israel, gives you breaking news, analyses and opinions about Israel, the Middle East and the Jewish World. Haaretz Daily Newspaper Ltd. All Rights Reserved

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'The Idea That Who You Are Is Only Genetics Is the Essence of Evil' - Books - Haaretz

Genetics

IPK researchers provide genetic explanations for shade-induced biomass allocation in wheat – EurekAlert

image:

The IPK research team asked how biomass allocation to wheat organs changes under canopy shade and what is the genetic basis for such changes.

Credit: IPK Leibniz Institute

Recent studies have shown a strong correlation between responses to plant density and to low light, indicating that the scarcity of light is often a limiting factor in high-density crop communities. Practices such as tillage, fertilizing the soil, and regulating the water supply can reduce competition for water and nutrients, but they amplify competition for light. These observations suggest that studying the genetic basis of plant responses to changes in the intensity and spectrum of light due to competition from neighbouring plants will advance our understanding of adaptation to the crop environment, says Dr. Guy Golan, first author of the study.

Therefore, the research team applied a new approach that combines principles from plant ecology and quantitative genetics for dissecting light-dependent and size-dependent allocation and identifying genes that regulate allocation to the leaves, stem, spikes, and grains when plants are shaded by neighbours.

One stimulating example comes from the known 'Green Revolution' gene Reduced Height-B1, which has two gene forms. On the one hand, the wild version leads plants to put a lot of their resources into growing tall stems. When these plants sense they are in the shade, they grow even taller to compete for more sunlight. On the other hand, plants with the 'Green Revolution' mutation allocate more resources to the spike, especially in shady conditions, making them more adaptable to low light.

However, allocation to the spike is also size dependent. When the conditions are conducive for growth, the short, semi-dwarf plants allocate significantly more resources to the spike than the tall varieties. Under low resources, when the plants are small, this advantage significantly decreases. This finding helps us understand the results from previous studies which showed that these shorter plants don't always do better than taller ones during droughts when the plants are small, says Dr. Guy Golan.

Our approach provides a basis for exploring the genetic determinants underlying investment strategies in the face of different resource constraints, and will be useful in predicting social behaviours of individuals in a crop community, says Prof. Dr. Thorsten Schnurbusch, head of IPKs research group Plant Architecture.

Agroecological genetics of biomass allocation in wheat uncovers genotype interactions with canopy shade and plant size

8-Feb-2024

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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IPK researchers provide genetic explanations for shade-induced biomass allocation in wheat - EurekAlert

Genetics

River Valley Beef Cattle Conference to explore state of hay availability, cattle genetics and more – Stuttgart Daily Leader

OZARK, Ark. Researchers and extension agents with the University of Arkansas System Division of Agriculture will be bringing the latest in cattle production knowledge to interested attendees at the Feb. 20 River Valley Beef Cattle Conference in Ozark.

With cattle markets soaring throughout 2023 and regional drought conditions affecting the availability and quality of hay and other forages, attendees can expect the conference to address topics key to success in 2024.

I think producers are mostly worried about hay and forage shortages, said Bob Harper, staff chair for the Logan County Cooperative Extension Service. They are also worried about high fertilizer and input costs in the coming year. I think most of them would like to try and up inputs this spring and summer in order to try and get back ahead of their hay situation, but they are concerned that high fertilizer prices may prevent that from happening.

In-person registration for the conference will begin at 8:30 a.m. and the conference will. conclude at 12:15 p.m. with lunch. The cost is $20, payable at the door.

Presenters will include Jesse Taylor, staff chair for the Johnson County Cooperative Extension Service; Kevin Van Pelt, extension agriculture agent for the Conway County Cooperative Extension Service; Maggie Justice, extension beef cattle specialist for the University of Arkansas System Division of Agriculture; Jeremy Powell, professor of animal science for the Division of Agriculture; and Ryan Loy, extension agricultural economist for the Division of Agriculture.

Taylor and Van Pelt will discuss the 2023 hay verification report, which will include the latest findings in verification trials. Justice will discuss understanding expected progeny differences, or EPDs, and genetic tests for cattle breeding. Loy will discuss the input price outlook for 2024.

The conference agenda includes:

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River Valley Beef Cattle Conference to explore state of hay availability, cattle genetics and more - Stuttgart Daily Leader

Genetics

Harnessing human evolution to advance precision medicine – EurekAlert

image:

People who visit the Andes Mountain Range in South America can feel the physical effects of lower oxygen levels at higher altitudes. However, some people who live there have evolved over hundreds of generations to tolerate these low-oxygen conditions.

Credit: Elysia Cook McDermott

Humans are still evolving, and Tatum Simonson, PhD, founder and co-director of the Center for Physiological Genomics of Low Oxygen at University of California School of Medicine, plans to use evolution to improve healthcare for all.

Her latest research, which was published February 9, 2024 in Science Advances, reveals that a gene variant in some Andean people is associated with reduced red blood cell count at high altitude, enabling them to safely live high in the mountains in low-oxygen conditions. Simonsons UC San Diego lab is applying those findings toward understanding whether there may be a genetic component to why some people with sleep apnea or pulmonary diseases such as chronic obstructive pulmonary disease (COPD) fare better than others.

Explained Simonson, There are people with COPD who breathe a lot and maintain a higher oxygen saturation. Others with the same disease don't breathe as much, and their oxygen saturation is low. Researchers suspect there may be genetic differences underlying this variation, similar to the variation we find in pathways important for oxygen sensing and responses underlying natural selection at high altitude.

Our cells need oxygen to survive. When there isnt enough in the environment, our bodies produce extra red blood cells, which transport oxygen throughout the body. Too many red blood cells, however, create a dangerous condition called excessive erythrocytosis (EE), which makes the blood viscous, which could lead to stroke or heart failure.

Her previous research showed that many mountain-dwelling Tibetans exposed to low-oxygen situations are born with innate mechanisms that protect them from poor outcomes at high altitude, including the overproduction of red blood cells. Part of this is due to changes in the regulation of the EPAS1 gene, which lowers hemoglobin concentrations by regulating the pathway that responds to changing oxygen levels. Advances in genetics have shown that modern Tibetans received this genetic advantage from their ancestors who mixed with archaic humans living in Asia tens of thousands of years agoa unique evolutionary history confined to this population.

For her latest research, Dr. Simonson, who is also the John B. West Endowed Chair in Respiratory Physiology and associate professor in the Division of Pulmonary, Critical Care, Sleep Medicine & Physiology at UC San Diego School of Medicine, zoomed in on the EPAS1 region of the genome. She and her team focused on a mutation in the gene that is present in some people living in the Andes but is absent in all other human populations. When they scanned whole Andean genomes, they found a pattern surrounding this variant suggesting that the genetic change, which alters only a single amino acid in the protein product, happened by chance, relatively recently (from 9,000 to 13,000 years ago), and spread very quickly through hundreds of generations within the Andean population.

Similar to Tibetans, the EPAS1 gene is associated with lower red blood cell count in Andeans who possess it. However, the researchers were surprised to find that the variant works in a completely different way from the Tibetan version of the gene; rather than regulating its levels, the Andean variant changes the genetic makeup of the protein, altering the DNA in every single cell.

Tibetans have, in general, an average lower hemoglobin concentration, and their physiology deals with low oxygen in a way that doesnt increase their red blood cells to excessively high levels. Now we have the first signs of evidence that Andeans are also going down that path, involving the same gene, but with a protein-coding change. Evolution has worked in these two populations, on the same gene, but in different ways, said Simonson.

This study exemplifies a current approach in research that connects genetic targets of natural selection with complex disease genesunderstanding, for example, how natural genetic variation contributes to adaptive and maladaptive responses to low oxygen, as this study reveals.

In Simonsons lab, that means figuring out what downstream target genes are being turned on in response to low oxygen, among other things. Said Simonson, This paper shows one gene associated with one particular phenotype, but we think there are many different genes and components of oxygen transport involved. Its just one piece of that puzzle, and could provide researchers with information relevant to other populations.

Simonson and her team are working with Latino populations in San Diego and El Centro, California, as well as Tijuana and Ensenada, Mexico, taking them to high altitudes and recording their breathing while awake and asleep. Theyre cross-referencing their findings with publicly available databases to determine whether the findings theyve made in Andeans are also found in local Latinos who may share some genetic variants with the Andeans.

In precision medicine, its important to recognize variation in genetic backgrounds, specifically in historically understudied populations, Simonson said. If we can find some shared genetic factors in populations in an extreme environment, that may help us understand aspects of health and disease in that group and groups more locally. In that way, this study aims to push research forward, and towards comprehensive personalized medicine approaches in clinics here in San Diego.

Co-authors of the study include: Elijah S. Lawrence, Wanjun Gu, James J. Yu, Erica C. Heinrich, Katie A. OBrien, Carlos A. Vasquez, Quinn T. Cowan , Patrick T. Bruck , Kysha Mercader, Mona Alotaibi, Tao Long, James E. Hall, Esteban A. Moya, Marco A. Bauk, Jennifer J. Reeves, Mitchell C. Kong, Rany M. Salem, Keolu P. Fox, Atul Malhotra, Frank L. Powel, Mohit Jain and Alexis C. Komor at UC San Diego, Ryan J. Bohlender, Hao Hu and Chad D. Huff at University of Texas MD Anderson Cancer Center, Cecilia Anza-Ramirez, Gustavo Vizcardo-Galindo , Jose-Luis Macarlupu , Rmulo Figueroa-Mujca, Daniela Bermudez, Noemi Corante and Francisco C. Villafuerte at Universidad Peruana Cayetano Heredia, Eduardo Gaio at Universidad de Braslia, Veikko Salomaa and Aki S. Havulinna at Finnish Institute for Health and Welfare and Andrew J. Murray at Cambridge University and Gianpiero L. Cavalleri at Royal College of Surgeons in Ireland.

This study was funded, in part, by the National Institutes of Health (Grants R01HL145470 [TSS] and T32HL134632 [JEH]), Geographic Society Explorer Award, and John B West Endowment in Respiratory Physiology (TSS), Wellcome Trust Award 107544/Z/15/Z (FCV), Marie Skodowska-Curie grant agreement No 890768 (KAO), National Academies of Sciences, Engineering, and Medicine Ford Foundation Fellowship (CAV), National Science Foundation Grant No DGE-2038238 (PTB), Research Corporation for Science Advancement through Cottrell Scholar Award 27502 (ACK), Science Foundation Ireland 12/IP/1727 (GLC), Finnish Foundation for Cardiovascular Research and Juho Vainio Foundation (VS), and Academy of Finland (ASH).

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Alexis Komor is a member of the SAB of Pairwise Plants, is an equity holder for Pairwise Plants and Beam Therapeutics, and receives royalties from Pairwise Plants, Beam Therapeutics, and Editas Medicine via patents licensed from Harvard University. Mohit Jain and Tao Long are affiliated with Sapient Bioanalytics, LLC.

Read more:
Harnessing human evolution to advance precision medicine - EurekAlert

Genetics

Twins are a mirror to each other and a window into the mysteries of genetics – WAMU 88.5

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Excerpt from:
Twins are a mirror to each other and a window into the mysteries of genetics - WAMU 88.5