Articles tagged with Mutation
Researchers at Johns Hopkins Medicine discovered a critical step in the molecular circuitry of immune cells that mobilizes the immune system to fight off foreign invaders. The findings, published in iScience, shed light on subtle genetic variations among human populations that may explain individual responses to infections.
Researchers identified a mechanism that helps explain how certain kinds of genetic disorders are transmitted from mother to child. The study showed that mutant mtDNA builds up in the final stages of egg formation and can impair mitochondrial function, leading to disease.
A world-first discovery has identified a genetic mutation responsible for a lymphatic disorder that may cause stillbirth or severe chronic disease in affected children. The mutation, MDFIC, controls the growth and development of lymphatic vessels in the fetus, leading to fluid accumulation in critical organs.
Researchers have identified a key brain protein to target for new customized drug therapies treating adverse symptoms of developmental disorder subtypes. The study found that mutations in ARHGEF9 lead to intellectual disability through impaired α2 subunit function, which is a central hub for many neurological symptoms.
Annual MRI screenings starting at ages 30-35 may reduce breast-cancer mortality by more than 50% among women who carry certain genetic changes in three genes. The predictions involve pathogenic variants in ATM, CHEK2 and PALB2 genes – which collectively are as prevalent as the much-reported BRCA1/2 gene mutations.
Scientists found a protective gene that counters a deleterious mutation causing atrial septal defects, allowing some people with the mutation to thrive. The discovery provides valuable clinical information for families affected by congenital heart disease.
Researchers at Fralin Biomedical Research Institute determine CASK gene disorder is caused by damage to neurons, not abnormal brain development. The finding has potential to inform treatment strategies for this rare genetic disease.
Researchers have developed a rapid and affordable test to identify specific genetic mutations in cancer cells using SuperSelective PCR primers. This assay can detect rare mutations, enabling targeted therapy and monitoring minimal residual disease. The study demonstrates the potential of this approach for personalized cancer treatment.
Researchers introduce a genetic mutation that reduces Alzheimer's risk by preventing amyloid plaque formation. The mutation, found in Icelanders, has no known disadvantage and may be used to treat familial and sporadic forms of the disease.
A new study published in JAMA Internal Medicine has found that gene variants increased the risk of acute kidney injury and death in African American veterans hospitalized with COVID-19. The study, which analyzed data from over 850,000 diverse veterans, identified APOL1 variants as a key contributor to this increased risk.
A team of researchers identified clusters of mutations in the genome that contribute to cancer progression in about 10% of human cancers. These clustered somatic mutations can be used to predict patient survival, with specific hotspots linked to better or worse outcomes for certain types of cancer.
Researchers detect four cryptic variants of SARS-CoV-2 in NYC wastewater samples, suggesting possible animal origins. The variants' mutations could help identify the next variant of concern for COVID-19.
Researchers have developed a method to assess drug potential for rare disorders by profiling FDA-approved drugs. The study identified NMD modulators that could potentially treat hundreds of disorders associated with nonsense-mediated RNA decay.
The study behind PopHumanVar explores how human genomes have adapted to environmental pressures and dietary changes throughout history. The database allows for the identification of specific mutations responsible for adaptive events, such as lactose digestion in European populations.
Researchers at Cold Spring Harbor Laboratory develop a novel method to modify the CFTR gene, allowing for the production of functional protein in patients with certain mutations. The technique involves using antisense oligonucleotides to skip over the mutation and produce a partially functional protein.
Researchers discovered a genetic mutation associated with small body size in dogs that also occurred in ancient wolves over 50,000 years ago. This finding presents a new evolutionary narrative and challenges the long-held theory that humans domesticated large wolves to create small companions.
Researchers found that non-mutated Apolipoprotein E was strongly enriched in dementia patients' brains, correlating with dementia diagnosis. Even those without the disease-driving APOE ε4 allele showed significant levels of ApoE peptides.
New research highlights key differences between COVID-19 variants alpha and omicron, including the impact on virulence and disease severity. The study suggests that omicron's genetic makeup is less conducive to causing severe illness compared to its older variant sibling, alpha.
Researchers at WVU are studying the Musashi proteins to understand their role in retinal degeneration and develop a universal therapy. By investigating protein translation and gene suppression, they hope to identify potential pathways to boost protein production and slow vision loss.
Scientists from CNIO and Massachusetts General Hospital have developed new approaches to visualize DNA repair by analyzing hundreds of proteins at once. They discovered nine new proteins involved in DNA repair and identified key players in the process, which could lead to improved cancer treatments.
A UMass Chan clinical trial demonstrates the safety and efficacy of an antisense oligonucleotide in suppressing mutant C9ORF72, a common cause of familial ALS. The treatment led to reduced levels of neurotoxins and stable or improved ALS functional scores.
Researchers analyzed the largest cross-species database to assess species-specific cancer mortality rates and found conclusive proof that cancer risk is largely independent of body mass and life expectancy. The study highlights potent mechanisms of cancer resistance in larger species, contradicting intuitive expectations.
Weill Cornell Medicine researchers have developed a new approach to analyze genetic mutations associated with spina bifida, shedding light on this complex birth defect. The study uses machine learning to identify genes and molecular pathways relevant to neural tube closure.
Researchers at Tel Aviv University successfully treated autism in animal models with medical cannabis oil, improving behavioral and biochemical parameters. The treatment showed significant improvement in compulsive and anxious behaviors, and a decrease in the concentration of the arousing neurotransmitter glutamate.
A study by Spanish researchers has deciphered the landscape of third-order interactions in cancer, revealing that many genes involved in cancer may require one or two hits depending on other mutations. This discovery opens the way to more precise genetic diagnosis and new therapeutic targets.
Researchers are exploring how an engineered adeno-associated virus (AAV) can compensate for missing protein or swap out genetic mutations that cause vision problems. AAV has been found to be beneficial and is being used as a tool to deliver genes that work as they should.
A study found that men with Li-Fraumeni syndrome have a 25-fold increased risk of developing aggressive prostate cancer, and those with inherited TP53 variants are diagnosed at a young age. Routine screening for prostate cancer is recommended for these individuals.
Researchers have created the first patient-specific zebrafish model for arrhythmogenic cardiomyopathy (ACM), a heart disease caused by a genetic mutation. The model recapitulates the human form of ACM, including fat accumulation in the heart and changes in calcium levels, and shows promise for relieving symptoms.
Researchers found a rare genetic mutation in Black Americans is associated with an earlier onset of heart failure and a higher risk of hospitalization. The study suggests that early screening for the mutation could lead to faster treatment and improved outcomes for this vulnerable group.
Researchers identified two novel mutations in the LRP6 gene associated with a rare form of hand polydactyly and tooth agenesis. The study expands the genetic spectrum of LRP6-related disorders, enabling clinicians to differentiate diagnosis and facilitate genetic research.
A study with lab-grown mouse cells reveals that lamin C plays a key role in maintaining the structural network under the cell's nucleus, ensuring proper DNA organization. This finding has significant implications for diagnosing and treating genetic disorders linked to DNA disorganization, such as progeria and muscular dystrophy.
A new study tracked the spread of a genetic mutation that causes young-onset heart arrhythmia across continents over centuries. The research found that the mutation was passed down from Northern Europe to other parts of the world through migration, and identified a specific gene, KCNQ1, as the cause of the disease.
Researchers developed a computational method to estimate new infection rates from genomic sequences, revealing decreased case detection in Europe during summer 2020 due to relaxed testing criteria. The study also highlights the effects of non-pharmaceutical interventions on COVID-19 spread.
Scientists have developed a technique to sequence individual malaria parasites' genomes, allowing for the detection of new mutations. These mutations are often targeting a gene family controlling transcription in malaria, suggesting potential avenues for developing more effective treatments and vaccines.
Scientists identified a rare genetic condition affecting prenatal development, leading to lifelong disabilities in children. They discovered a potential method to prevent the condition by administering a drug during pregnancy, which boosted Wnt signaling and restored normal growth in mouse embryos.
A new study at Ohio State University's Comprehensive Cancer Center is using rapid autopsies to gather biological samples after death to better understand how cancer cells overcome different treatments. This approach has already led to novel findings about drug resistance mechanisms, including the recent approval of a targeted therapy f...
A recent study published at Masonic Medical Research Institute found that electrocution-induced physiological stress can lead to overlapping cardiac conditions in individuals. The research used human induced pluripotent stem cells to investigate the mechanisms behind these conditions, shedding light on potential new treatments.
A study by University of Utah biologists discovered a mutation in the ROR2 gene is linked to short beak length in domestic pigeons. This mutation also underlies the human disorder Robinow syndrome, which shares striking facial features with the pigeon phenotype.
The university will support research on normal and abnormal brain development, including rare diseases that cause intellectual disabilities. Researchers aim to improve care and treatment for children with IDDs.
Researchers found that remnant cholesterol levels above 24 micrograms per deciliter were associated with a 40-50% higher risk of major heart disease or stroke. The study suggests using remnant cholesterol as an additional metric for predicting cardiovascular disease and stroke risk, in addition to LDL cholesterol levels.
Researchers discover that sudden cardiac episodes are caused by a combination of genetic mutations and chemical modifications in heart cells. The study uses new technology to manipulate the protein, demonstrating that phosphorylation can affect its function, particularly when paired with mutations.
Silent mutations, which don't change protein sequences, hold diagnostic value in predicting cancer types and patient survival. The study analyzed over 10,000 cancer genomes and found that combining information from silent and non-silent mutations improved classification and prognostication up to 17% and 5%, respectively.
Belgian researchers have developed an all-in-one test to identify healthy embryos for transfer, reducing the risk of passing de novo genetic diseases. The test uses long read sequencing and can detect copy number variants and single nucleotide variants in a single workflow.
Researchers found a mutation in ELOVL4 enzyme impairs communication between neurons, leading to impaired motor control and coordination. The study provides new insights into the essential role of ELOVL4 in motor function and synaptic plasticity, suggesting potential therapeutic strategies for patients with spinocerebellar ataxia.
A USF Health study found that deleting a single gene, Foxo1, promotes the growth of functional lymphatic valves in both young and adult mice. This discovery offers a promising early treatment approach for hereditary lymphedema, a chronic condition characterized by fluid accumulation under the skin.
Researchers identified a genetic mutation in nonhuman primates that closely resembles Pelizaeus-Merzbacher disease, a rare and progressive disorder affecting the central nervous system. The discovery was made possible by a massive genomic database built at OHSU's Oregon National Primate Research Center.
Researchers identified a genetic mutation linked to a weakened immune system response in the gut, leading to rare and severe inflammatory bowel disease. The study found that mutations in the IFIH1 gene result in abnormal production of the MDA5 protein, causing improper immune activation and inflammation.
A new study published in DNA Repair shows that hydroxychloroquine exhibits DNA-damaging and mutagenic effects at a clinically achievable dose. The findings suggest the possibility of additional side effects, particularly in patient populations, and emphasize the need for careful risk assessment and informed consent.
Researchers found impaired neurotransmitter release and synaptic signaling in human-derived neurons from patients with schizophrenia and a rare genetic mutation. This discovery provides insight into the cellular pathways perturbed in schizophrenia and offers a lead for studying this biology.
Researchers used a machine-learning algorithm to identify novel gene candidates associated with immune traits in mice, including 101 new genes with over 95% chance of being required for immunity. The study's software, Candidate Explorer, helps predict causation of mutations and has already verified hundreds of genes with novel functions.
A new study published in the American Journal of Pathology uses Fast IR imaging-based AI to identify tumor type in lung cancer, providing a promising diagnostic method for future testing and treatment prediction. The analysis takes only half an hour, offering a significant improvement over current methods.
Researchers at H. Lee Moffitt Cancer Center discovered that acral nevi have a distinct mutation profile compared to acral melanoma, with activating mutations in the BRAF gene being very common in acral nevi. The study found that only 10% of patients had activating mutations in the NRAS gene.
A new genetic mutation found in African Americans significantly increases risk of atrial fibrillation and heart failure, prompting researchers to recommend genetic testing for this population. The study also identifies a potential link between a newly discovered gene and early-onset AFib.
Researchers used CRISPR to study tomato gene interactions, revealing a complex relationship between mutations and fruit size. The findings suggest that predicting the effects of mutations on different varieties is crucial for efficient crop breeding.
Researchers discovered a link between the mutated enzyme phenylalanine hydroxylase (PAH) and increased oxidative stress in mouse models of Folling Disease. This finding may explain some comorbidities found in adult PKU patients and has implications for understanding the disease.
A novel mechanism has been identified that might explain why a rare mutation is associated with familial Alzheimer's disease. The presence of the S198P mutation resulted in elevated levels of A? peptides due to rapid folding of APP, leading to faster production and deposition of A? peptides.
A study at the University of Helsinki uses machine learning to analyze bone marrow samples and identify genetic mutations associated with myelodysplastic syndrome (MDS). The technique provides new insights into disease progression and can help assess and diagnose hematological malignancies.
A Phase 3 study found a three-drug regimen safe and effective in improving lung function, respiratory symptoms, and nutritional status in 6-11 year olds with F508del mutation, representing about 90% of US cystic fibrosis population. The treatment also showed significant improvements in sweat chloride concentration.
Scientists have discovered that large numbers of inherited genetic mutations collectively increase cancer risk, particularly for late-onset types. This breakthrough could lead to more effective early detection strategies and personalized cancer treatments tailored to an individual's genetics.
A genetic defect has been identified as a key factor in the development of MacTel, an eye disease that can lead to vision loss and blindness. The discovery provides new insights into the condition and may enable clinicians to better diagnose and treat it.