Articles tagged with Human Genetics
Researchers identified a genetic variant that predisposes people to being slim, carried by 60% of Europeans. The variant affects the amount of fat stored in the body and is associated with the biochemical signalling pathway that tells cells what nutrients are available.
A study published in PLOS Genetics found that genetic variants linked to systemic lupus erythematosus (SLE) may also provide protection against severe COVID-19 infection. The researchers identified TYK2, a gene involved in interferon production, as the key locus behind this protective effect.
Mount Sinai researchers catalogued thousands of sites in the brain where RNA is modified throughout the human lifespan, increasing with age. This study provides a model depicting how A-to-I editing evolves over a lifetime, shedding light on its role in health and disease.
Researchers used DNA from two ancient human individuals to unravel the deep demographic history of South America, providing new genetic evidence supporting existing archaeological data. They also discovered migrations along the Atlantic coast for the first time and found evidence of Neanderthal ancestry within ancient genomes.
Researchers found a longer PR interval and prolonged QT duration in genetically modified pig hearts after transplantation into humans, indicating signs of electrical disease. The study provides a foundation for future research to better understand xenotransplantation's effects on the heart's electrical system.
Researchers at the University of Seville have discovered a method to attack cancer cells using an origin-of-life molecule. The study found that inhibiting RNA production boosts the utility of radiation therapy in cancer cells, offering a promising approach to treating various types of cancer.
A new study has discovered that MTCH2, a protein essential in various cellular processes, acts as a 'door' for proteins to access the mitochondrial membrane. The finding opens up potential avenues for cancer treatments by harnessing apoptosis, a programmed cell death mechanism.
A genome-wide association study identified three significant loci for frozen shoulder, including WNT7B, associated with a nearly sixfold increase in the odds of developing the condition. The findings may provide new insights into the development and treatment of adhesive capsulitis.
The study found that genetic variants associated with height are concentrated in regions covering just over 20% of the genome. The variants identified explain 40% of the variation in height for people of European ancestry, and around 10-20% for those of non-European ancestry.
A University of California, Berkeley study found that aging and environment are more important than genetic variation in affecting gene expression. As individuals age, their gene expression profiles diverge, making genetics less useful in predicting which genes are ramped up or down.
Researchers at IMBA found that Kipferl helps distribute Rhino to piRNA clusters, avoiding sequestration to Satellite arrays. This control mechanism ensures the effective silencing of jumping genes and maintains genome stability.
A recent study found that cancer biomarker data is biased towards European populations, potentially misclassifying patients of Asian or African descent. The researchers propose a computational approach to correct this bias, which could have significant implications for treatment selection.
Researchers from the Netherlands Cancer Institute have discovered a new 'mystery gene' responsible for maturing the actin protein, a main component of the cell skeleton. The findings shed light on the complex process by which proteins are completed and functional in cells, with potential implications for understanding muscle diseases.
Researchers have genetically engineered human muscle cells to take up more sugar from the blood, reducing blood glucose levels by 20% in diabetic mice. The new tissue also shows promise for a single injection of tissue providing long-lasting glucose control.
A recent genetic study has shed new light on the Anglo-Saxon migration to Britain, revealing that around 75% of Eastern and Southern English populations descended from continental migrants. The integration of these migrant families with the existing British population varied by region and community.
Two studies identify 22 previously unreported NFKB1 variants linked to immune system dysfunction, including reduced expression of the protein and altered gene expression. The findings suggest targeted inhibition of NFkB signaling pathway components as an attractive therapeutic approach for treating these diseases.
A team of researchers found that chromatin motion on damaged DNA sites moves faster than those away from damage, with the group moving as a unit over short distances. This coherent movement is crucial for effective DNA repair, preventing damaged DNA from harmful contact and improving accuracy.
Researchers have developed a novel DNA-based method to identify people at greater genetic risk of developing Alzheimer's disease before symptoms appear. The method uses data on common DNA variants from over 7.1 million individuals and predicts a person's risk of Alzheimer's, depending on which DNA variants they have.
Researchers sequenced 2,574 pediatric ALL patient samples, identifying 376 significantly mutated genes that potentially drive cancer development. The study provides a foundational guide for physicians and scientists to understand disease development and improve treatment outcomes.
A new study reveals that the emergence of a new gene called PGBD1 is linked to the evolution of a new structure in nerve cells. PGBD1 controls paraspeckles, tiny structures that act like traps for RNAs and proteins, and its regulation is crucial for nerve cell development.
Researchers identified 15 instances of mucinization, where new mucins emerged from non-mucin proteins by adding repeating sequences. This process transformed the proteins into mucins with gooey consistency, contributing to their various biological functions.
A new study reveals that the protein CHIP can regulate insulin receptor signals more efficiently alone than in a paired state. This finding suggests that maintaining a balance between monomeric and dimeric states of CHIP is crucial for proper cellular function.
A recent study published in the Journal of Aging and Physical Activity found that higher levels of light physical activity and moderate-to-vigorous physical activity were associated with lower risk of death. In contrast, higher sedentary time was linked to increased mortality risk, regardless of genetic predisposition for longevity.
A new study published in Cell Reports Methods introduces a dating method called Temporal Population Structure (TPS) that uses artificial intelligence to accurately date human remains up to 10,000 years old. The method has shown promise in analyzing approximately 5,000 human remains from the Late Mesolithic period and modern times.
A study found that genetically unrelated individuals with extreme facial similarities share common genetic variants, but differ in epigenetic and microbiome landscapes. The results suggest a molecular basis for human resemblance, with potential implications in forensics and biomedicine.
A genome-wide analysis of five reading- and language-based skills in thousands of people identified shared biological bases. The study found genetic links with language-related brain areas and individual differences in neuroanatomy, highlighting the complex interplay between nature and nurture.
Researchers discovered that pairs of unrelated 'look-alikes' share similar genetic variations, physical characteristics, and even behavior. Genome-wide analyses found common single nucleotide polymorphisms (SNPs) in nine out of 16 pairs, with similarities in weights and lifestyle factors.
A Rutgers scientist has developed a highly sensitive DNA test that can detect Lyme disease in horses, a condition that can cause long-term complications. The test, called genomic hybrid capture assay, was tested on a sick horse and successfully identified the pathogen, allowing for early diagnosis and treatment.
A study of Y chromosome genomic analysis reveals evidence of a South American settlement pre-18,000 years ago. The findings also suggest a profound genomic impact during the Younger Dryas period.
Researchers discovered a rare genetic mutation that may lead to better diabetes treatments for patients, regardless of whether they inherited the mutation. The study found that carriers of the mutation had lower levels of adiponectin and higher levels of ceramides in their blood.
Researchers found that the APOE4 gene variant associated with Alzheimer's disease decreases risk of glaucoma by blocking a disease cascade. They also identified a potential treatment strategy using Galectin-3 inhibitors to prevent vision loss in mice with glaucoma.
Researchers identify small molecules that can restore wild-type p53 tumor suppression function to mutated p53 in both lab and mouse models. The approach has potential for developing new pharmaceuticals for treating cancers with p53 mutations.
Researchers at IRB Barcelona have found that CRISPR/Cas9 gene editing can trigger cell toxicity and genomic instability, particularly in regions near the tumour suppressor protein p53. The study identified 3,300 targeted spots with strong toxic effects, highlighting the need for safer CRISPR reagents.
The research team will analyze the remaining two enzymes necessary for riboflavin production and build a 'riboflavinator' in a test tube. This understanding could lead to improved methods for treating diseases and improving public health.
Researchers used single-nucleus RNA-sequencing to study heart tissue from patients with cardiomyopathies and found distinct cell types involved in pathogenesis. Genotype-associated pathways were also identified, providing evidence that genotype influences pathological remodeling of the heart.
The study investigated the effects of combined endocrine-disrupting chemicals (EDCs) on liver function and metabolic homeostasis in mice models. Significant changes were observed at high EDC exposure levels, including liver weight increase, lipid buildup, and elevated blood glucose levels.
SLFN11 acts as a surveillance factor for protein homeostasis by alleviating proteotoxic stress derived from protein synthesis and maturation. Its lack makes cells vulnerable to anticancer drugs inducing ER and proteotoxic stress, leading to chemoresistance. SLFN11 is also involved in regulating immune response and inflammation.
The Gerlich Group at IMBA found that histone acetylation establishes a sharp surface boundary on chromosomes, resisting microtubule perforation. Chromatin phase separation and DNA looping by condensin cooperates to build mitotic chromosomes with unique physical properties.
A team of researchers proposes a program to collect astronauts' biological samples, enabling the use of cutting-edge technologies to understand gene, mRNA, protein, and metabolite changes in space. This approach aims to mitigate spaceflight risks and advance personalized medicine for astronauts.
The study proposes a new statistical method to analyse population admixture, enabling more accurate determination of migration wave timing. The authors applied this method to Colombians and Mexicans, revealing two episodes of admixture in different time periods.
A study of over 500 patients with multiple myeloma reveals a high prevalence of genetic alterations in oncogenic pathways, leading to treatment resistance. The research found a specific link between RASopathies and mutations in these pathways, offering new insights into the development of resistance mechanisms.
Researchers at Joslin Diabetes Center identified a human gut bacterium that makes a protein mimicking the insulin peptide targeted by the immune system in type 1 diabetes. The presence of this bacterium accelerates the onset of diabetes in a mouse model and is linked to its development in children at genetic risk.
A team of scientists has discovered a key link between the protein αSyn and Parkinson's disease, finding that it interacts with immune responses in neurons. This interaction may play a critical role in the development of the disease, suggesting a potential new approach for treatments by targeting inflammatory pathways.
Researchers have dated the emergence of genetic variants characteristic of modern humans to two distinct periods: one around 40,000 years ago, linked to population growth and divergence from Africa, and an older one over 100,000 years ago, reflecting the species' greatest diversity in Africa. These findings complement the mosaic nature...
Researchers used deactivated Cas9 proteins to target key segments of the human genome and synthetically trigger gene transcription. The study revealed that enhancers can send messages in both directions, but with a predominant regulatory mode where an enhancer tracks toward corresponding promoters.
Loss of the Y chromosome in white blood cells causes fibrosis in the heart, impaired heart function, and death from cardiovascular diseases in men. Men with this genetic change have an increased risk of developing age-related diseases such as cancer and Alzheimer's disease.
Researchers at Edith Cowan University have found a genetic link between human leukocyte antigens and immunotherapy side effects in non-small cell lung cancer patients. The discovery enables doctors to tailor treatment to individual patients, reducing the risk of toxicities and improving overall outcomes.
Researchers analyzed germline variants in breast cancer patients to identify their role in metastasis development. The study found that host genetic makeup contributes to metastasis through dysregulation of gene expression, promoting the dispersion of metastatic seeds and establishing a conducive environment for their growth.
Researchers at Cleveland Clinic discovered that pathogenic POLE/POLD1 genetic mutations in tumors lead to a high level of immune cell infiltration and improved response to immune checkpoint blockade therapy. The study's findings contribute to the growing list of discoveries that prove certain classes of drugs are more effective based o...
A new molecule, inosine, has been identified as a key booster of fat burning through activation of brown fat cells. Studies have shown that inosine can increase energy consumption and protect against diabetes in mice fed high-energy diets.
A KAUST-developed nanotechnology platform uses tiny iron wires that bend in response to magnetic fields to accelerate bone cell formation. Bone-forming stem cells grown on the moving substrate transform into mature bone much faster than usual, potentially paving the way for more efficient regeneration of bone.
A new study published in PLOS Biology found that IVF embryos often undergo genetic and metabolic changes that inhibit development. The researchers discovered that certain embryos enter a senescent-like state, but treating them with resveratrol can help overcome this arrest and promote further development.
A novel single-cell RNA sequencing technique, TAS-Seq, has been developed to provide higher-precision data than current methods. The new method detects more genes and identifies highly variable genes, making it a sensitive high-throughput scRNA method.
Researchers at MIT have created a new liver tissue model that identifies one molecule playing a key role in human liver regeneration. The study also reveals several other candidates that will be explored further to discover new human-specific pathways.
Researchers developed a low-cost 3D model of the brain to study SARS-CoV-2's neurological effects. The adapted virus replicates 30 times more efficiently in astrocytes than neurons, highlighting the importance of these cells in central nervous system infection.
Researchers have discovered the process of incorporating selenium into 25 specialized proteins, essential for various cellular and metabolic processes. The study provides critical insights into the workings of these vital mechanisms, which could lead to the development of new medical therapies.
Researchers discuss Hepatitis D's life cycle and interactions with its host, exploring strategies for further research to combat this overlooked virus. HDV coinfects people with hepatitis B, rapidly progressing to liver cirrhosis and cancer if left untreated, with a review published in the Chinese Medical Journal.
Researchers at the University of Houston have made a groundbreaking discovery in repairing and regenerating heart muscle cells in mice. The technology uses synthetic mRNA to deliver mutated transcription factors, which increases the replication of cardiomyocytes. This finding has the potential to become a powerful clinical strategy for...
Researchers found thalidomide to be an effective treatment for severe arteriovenous malformations (AVMs), reducing symptoms and improving quality of life in patients. The study showed a striking reduction in symptoms, with some patients experiencing complete cure after treatment.
Researchers elucidated the protease-inhibitory mechanism of A2ML1 using cryo-EM structures, shedding light on its role in severe autoimmune blistering diseases. The study improves understanding of related proteins and their function.