Articles tagged with Human Genetics
Researchers found that alterations in the RNF43 and ZNRF3 genes lead to an accumulation of lipids and inflammation in the liver, increasing the risk of developing non-alcoholic steatohepatitis (NASH) and fatty liver disease. These genetic changes also affect liver cell proliferation, contributing to the progression of liver diseases.
A molecule of RNA called CARMN has been found to play a crucial role in maintaining healthy smooth muscle cells in the blood vessel wall, which can help prevent atherosclerosis and angioplasty-induced restenosis. Restoring healthy CARMN levels may lead to new approaches for treating heart disease.
Scientists have developed a new technique to extract DNA from the 'cement' head lice that attached eggs to hairs of ancient humans. This method reveals clues about pre-Columbian human migration patterns in South America, allowing for the study of unique samples from mummified remains where bone and tooth samples are unavailable.
A genetic variation among some Greenlanders makes sugar healthy by converting it into a short-chain fatty acid called acetate, which boosts the immune system. Adult carriers have lower BMI, weight, and fat percentage, while children may experience negative consequences from consuming sugar.
The study developed a new strategy to sequence thousands of bacterial isolates with collaborators from economically-challenged countries, aiming to make genomic data more accessible. The 10,000 Salmonella genomes research consortium sequenced and analysed 10,000 Salmonella genomes from Africa and Latin America, strengthening global res...
Researchers have introduced a new tool, Giraffe, that can efficiently map new genome sequences to a 'pangenome' representing many diverse human genome sequences. This approach allows for a more comprehensive characterization of genetic variations and reduces mapping bias.
Researchers have identified a key protein in the brain that regulates habituation, a mechanism essential for focus and attention. The study found that a decrease in this protein leads to hypersensitivity and symptoms similar to those seen in Autism Spectrum Disorder.
Researchers grew 'mini-brains' from stem cells of patients with and without schizophrenia, finding reduced gene expression in patient samples that stymied brain cell development. Replacing the missing genes restored normal brain cell production, suggesting a potential target for therapy.
Researchers identified the CIROP gene, crucial for establishing proper left-right asymmetry during embryonic development, which is linked to congenital heart defects and misplacement of internal organs. The study provides insights into the development of left-right patterning and has implications for research on potential therapies.
The study found that exercise induces expression of long noncoding RNA CYTOR, which enhances myogenic differentiation and improves muscle morphology and function in aged muscles. CYTOR also re-configures chromatin accessibility at binding sites of other genes, shedding light on its mechanisms.
Humans developed natural genetic resistance to anthrax by having a diet of more ruminants and experiencing agricultural practices, leading to fewer anthrax receptors. European populations showed an even greater reduction in anthrax receptor expression compared to other human populations.
Researchers have identified a genetic variant in the B4GALT1 gene that may confer protective effects against cardiovascular disease, characterized by lower LDL-C levels and decreased fibrinogen. The discovery could inform novel therapeutic approaches to decreasing or preventing CVD.
A new computational tool allows precise prediction of protein interfaces for COVID-19 and human interactions. This breakthrough enables researchers to better understand virus development, identify high-risk populations, and develop targeted drugs.
Researchers compared genetic expression profiles of canine acanthomatous ameloblastoma and human oral tumor ameloblastoma, finding similarities in molecular mutations. The study lays groundwork for potential translational medicine, as the dog model may represent a useful clinical model of the disease.
A team of international researchers has developed a globally-applicable ethical code for ancient human DNA research, aiming to address social and cultural implications. The code proposes cooperation with stakeholders, minimal damage to human remains, and respect for indigenous communities' perspectives.
A new study found that genetic ancestry shapes the immune response to the influenza virus, with increased European ancestry associated with a stronger type I IFN response. This finding has potential clinical implications for understanding COVID-19 susceptibility and disease progression.
New research reveals how genetic variations impact COVID-19 case severity, focusing on non-classical monocytes and their role in the immune response. The study identifies potential targets for therapies to boost immune cell function and improve disease outcomes.
A new study analyzing 136 ancient Iberian genomes uncovers a genetic mix of local Chalcolithic ancestry and incoming steppe-related ancestry, with additional signals from the Mediterranean and Asia. The data suggests a structured social organization and early state-like formations during the Copper Age to Bronze Age transition.
Researchers developed a novel model to identify specific genes and genetic alterations in multiple myeloma, stratifying the cancer's severity via DNA and RNA sequencing. This model revealed diverse subtypes and high-risk patients beyond current classifications.
Researchers from the University of Rochester have further evidence that genes are evolving defensive mechanisms to counteract harmful genetic elements. The study found that specific genes developed weapons-like structures to combat 'parasites' in the human genome, highlighting the ongoing 'arms race' between these two forces.
A new study found that tumors with one mutant copy of the PIK3CA gene tend to have lower PI3K activity, while those with two or more copies often have higher PIK3α activity, leading to more aggressive tumors and poorer prognosis. The research also discovered a counterintuitive relationship between PI3K mutations, PI3K activity, and ste...
Researchers have made significant breakthroughs in understanding Parkinson's disease, revealing that affected neurons don't die but lose properties. This knowledge opens the door to new therapeutic treatments targeting the cell body, rather than just axons.
Researchers found that a receptor in the brain detects nutritional state and regulates puberty timing and growth rate, explaining why humans have been growing taller and reaching sexual maturity earlier over the past century. The discovery has immediate practical implications for testing children with growth delays.
Researchers used a yeast model to understand the dynamics of early-stage ribosomal subunit assembly, discovering snR190 functions as an RNA chaperone. The study also identified Dbp7 as the enzyme responsible for dissociating snR190 from ribosomal RNA precursors.
A team of experts from Tel Aviv University has identified 5 coronavirus proteins responsible for damaging blood vessels. The researchers hope that the identification will lead to the development of targeted drugs that reduce vascular damage in COVID-19 patients.
A team of scientists developed a free VR tool called singlecellVR, allowing users to explore single-cell datasets in VR. The program is built on previous advancements and enables users to visualize their own precomputed data directly from commonly used single-cell analysis tools.
A genomic study of the Tarim Basin mummies in western China found that they were direct descendants of a once widespread Pleistocene population known as Ancient North Eurasians. The mummies show no evidence of admixture with other Holocene groups, forming a previously unknown genetic isolate.
A man has been confirmed as the great-grandson of Sitting Bull using ancient DNA extracted from his scalp lock. The new technique analyzes autosomal DNA to establish familial relationships between living and historical individuals, with potential applications in forensic investigations.
A recent study by the University of California - San Diego team discovered that glycogen regulates and promotes fat metabolism, helping to balance energy intake and expenditure. The research suggests modulating glycogen metabolism in fat cells could provide new approaches for weight loss and improved metabolic health.
A recent study has discovered genetic markers associated with high levels of lipopolysaccharide (LPS) in the blood, a toxin linked to sepsis and cardiovascular diseases. The research also found a connection between LPS levels and blood coagulation disorders, such as thromboembolism and stroke.
A team led by NYU Langone's Robert Montgomery successfully transplanted a genetically engineered pig kidney into a human body, marking a major step forward in xenotransplantation. The procedure, performed on September 25, 2021, used a GalSafeTM pig with the alpha-gal biomolecule removed to avoid rejection.
The study analyzed data from 8,502 genetically high-risk children and found that half developed type 1 diabetes before age 6, while the other half developed it between ages 6 and 12. The findings suggest a different form of type 1 diabetes emerges in children as they grow older.
A new study identifies 13 genes as key factors in shaping physical fitness through various forms of exercise. Genetic differences account for up to 72% of the variation in muscle strength improvements.
A recent study published in PaleoAmerica journal challenges the long-held theory that Native Americans originated from Japan. The research, led by Professor Richard Scott, analyzed genetics and skeletal biology of teeth samples from multiple continents, finding little connection between the Jomon people and Native Americans.
Researchers at UMass Amherst discovered that molecular chaperones display 'selective promiscuity', enabling them to play a crucial role in maintaining healthy cells. This property allows chaperones to help many different proteins, which is essential for cell health.
A new genetic study reveals hundreds of genes that evolved to be turned on or off in the human uterus during early pregnancy, shedding light on what makes human pregnancy uniquely human. These genes are involved in cell-to-cell communication, immune response regulation, and placental invasion, highlighting the importance of evolutionar...
Researchers at Lund University discovered a previously overlooked part of our DNA that appears to contribute to the development of human and chimpanzee brains. The study found that humans and chimpanzees use a structural variant of DNA in different ways, which plays a significant role in brain evolution.
A study found that chronic stress, measured by allostatic load, was associated with a lower likelihood of completing chemotherapy and lower overall survival rate in patients with lymph node-positive or high-risk lymph node-negative HER2-negative breast cancer. Allostatic load may be a better predictor than genetic ancestry for chemothe...
A recent study using genome-wide data from 82 ancient individuals in central and southern Italy has clarified the origins of the enigmatic Etruscans. The results show that despite their unique cultural expressions, the Etruscans were closely related to their Italic neighbors, with genetic transformations associated with historical events.
Researchers have identified a shortened version of the human growth hormone receptor gene, GHRd3, which may help people survive in situations where resources are scarce or unpredictable. The study found that this variant emerged around 1-2 million years ago and was more prevalent in ancient humans and Neanderthals.
Researchers at WVU aim to characterize autism patients' behaviors using behavior-tracking technology. They plan to use artificial intelligence to identify traits associated with ASD, which could lead to more accurate diagnoses and personalized interventions. The study also has the potential to improve early detection in young children.
A large-scale study has identified thousands of genetic loci regulating blood gene expression, including cis and trans effects found in 88% of genes and 37% of trait-related variants. This research provides new insights into molecular relationships for various traits and diseases.
Caltech researchers have developed a technique to build embryo-like structures from human stem cells, opening up new possibilities for studying early human development. The technology can generate large quantities of these structures without the need for donated embryos.
Researchers analyzed 1,785 ancient human genomes to determine parental relatedness, revealing that cousin marriages occurred only 3% of the time. The new method allowed for more efficient screening of ancient DNA, also providing insights into population dynamics and demographic impact of agriculture.
Researchers at University of Illinois Chicago found a potential direct connection between neurodegenerative diseases, such as Alzheimer's disease, amyotrophic lateral sclerosis (ALS), glaucoma, and herpesvirus. The study suggests OPTN protein restricts HSV-1 virus spread in cells.
Researchers at UC San Diego will use $6.4 million in NIH funding to study the influence of external signals on insulin production in beta cells. They aim to create a roadmap of genetic variations that can predict changes in insulin output, which may help prevent and treat diabetes.
Researchers found that viral fossils in Australian marsupials are used to make non-coding RNAs that protect against outside infection. The study suggests that these viral fossils may be helping to immunize animals, potentially providing a mechanism similar to vaccination.
Researchers analyzed ancient DNA from victims of epidemics in Mexico and found evidence of newly introduced viruses, including smallpox, measles, and mumps. The study suggests that European colonists brought these viruses to North America, contributing to devastating epidemics among Indigenous communities.
A new open-access repository aggregates and enhances FAQs by genomics researchers to explain their studies and debunk bias. The repository provides easily accessible information for various stakeholders, including policymakers, journalists, industry, and patient groups.
Researchers from the University of Copenhagen have discovered a hormone in fruit flies that regulates human metabolism, potentially leading to new treatments for obesity and diabetes. The CAPA hormone plays a crucial role in maintaining energy balance, raising blood sugar levels, and regulating insulin secretion.
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
A UC Riverside-led study identifies how loss-of-function mutations in the gene PTPN2 affect intestinal epithelial cells' ability to maintain a barrier. The researchers found that increased fluid loss and diarrhea are linked to the mutation, which can be reversed by treating cells with synthetic matriptase.
A 7,000-year-old human skeleton from Sulawesi has provided new insights into ancient human relations. The genome analysis shows a connection to the first modern humans to reach Oceania and a mix of Denisovan and Asian genetic components.
Researchers found that UVB phototherapy increases levels of romantic passion and aggression in both men and women. Exposure to sunlight affects the endocrine system's regulation of sexual hormones.
A new study identifies at least three migratory events that shaped central European prehistory, revealing a more dynamic period than previously thought. Genetic profiles show evidence of recent migrations and novel insights into social processes, such as the expansion of Corded Ware culture and the assimilation of women.
A new study led by UCL researchers confirms that genetic inheritance has a significant impact on educational outcomes. However, the study also reveals that parent genes that aren't directly inherited can shape parents' education levels and subsequently influence their children's learning environment, affecting their academic success.
A new study found that rare single-nucleotide variants in the MX1 gene increase human susceptibility to zoonotic H7N9 avian influenza infection. These genetic vulnerabilities may act as incubators for transmission of virulent new IAV subtypes, posing a risk for pandemic viruses.
Researchers reconstructed genetic histories and social organization in two ancient Croatian sites, uncovering a diverse population with little biological kinship. The study found that individuals from different burial rites had similar genetic ancestry, but also identified endogamous mating practices and patrilocal social organization.
A team of researchers has identified a novel splicing mechanism for human short introns, involving the distinct factor SPF45. This discovery sheds light on alternative splicing and its potential applications in cancer treatment.
Researchers created the first detailed cell-by-cell description of how the coronal suture develops, identifying new genes and cell types involved in generating stem cells that grow skull bones. The study aims to advance new interventions for patients with craniosynostosis.