Articles tagged with Mutation
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Researchers at the University of Leeds have discovered a new study identifying genetic mutations that suggest VEXAS syndrome is more prevalent than first thought. The disease affects only men and causes unexplained fevers, painful skin rashes, and reduced blood cell count.
Researchers identified somatic gene mutations in brain cells of people with schizophrenia that disrupted synaptic function and affected proteins critical for neural signaling. The study found that these rare mutations could contribute to the disease's neuropathology, particularly in genes associated with glutamate receptor function.
Researchers at WVU and Marshall University are analyzing COVID-19 samples to identify new variants, including the UK Variant B.1.1.7, which is believed to be more contagious than the original virus. The team aims to understand how these variants evolve and potentially develop therapeutics or vaccines.
Researchers at Harvard University discovered that zebrafish fins can be transformed into complex limb-like structures through genetic mutations. The study reveals that the ability to form limb-like structures was present in the common ancestor of tetrapods and teleost fishes.
A recent study found that non-white patients are disproportionately excluded from receiving the latest precision medicines for cystic fibrosis due to genetic test limitations. The drug trials were primarily conducted on non-Hispanic white patients, leading to a lack of representation in the patient registry.
A new study stratified tumors into 112 subtypes and found Master Regulator proteins control the transcriptional state of each subtype. Targeting these proteins with novel drug classes could benefit a larger fraction of patients. The analysis identified 24 Master Regulator modules, mechanistically controlling cancer cell survival.
A study at Columbia University Irving Medical Center found that specific functional units within genes, called exons, can impact autism severity. The researchers analyzed genetic and clinical data from over 2,500 people with autism and discovered that children with truncating mutations in the same exon often exhibit similar symptoms.
Researchers at Hiroshima University have identified two novel genetic mutations in an infant with anti-N-methyl-d-aspartate receptor encephalitis, a condition that affects the brain's immune response. The new method uses a NF-κB reporter assay to precisely evaluate the harm caused by IRAK4 gene mutations.
Researchers have discovered a genetic connection between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), with the same huntingtin mutation associated with Huntington's disease. The study opens up possibilities for gene therapy targeting this mutation, which could lead to personalized medicine.
Researchers at Children's Hospital of Philadelphia (CHOP) resolved a severe lymphatic disorder in a girl with Noonan Syndrome by targeting the SOS1 gene pathway. The treatment, an MEK inhibitor, led to a resolution of symptoms within three months and complete remodeling of her lymphatic system.
A genetic mutation in the 'coat' of a brain infection-causing virus may allow it to escape neutralizing antibodies, increasing the risk of developing a fatal brain disease. Researchers have identified this mutation in the mouse equivalent of JC polyomavirus and found that it prevents monoclonal antibodies from interacting with the virus.
A Mayo Clinic study found that 13.5% of cancer patients had inherited genetic mutations associated with their cancer development. The discovery could lead to targeted cancer therapies and improved survival rates for patients with these high-risk mutations.
A study by researchers at UC Santa Cruz reveals the molecular mechanisms behind the 'night owl' sleep disorder, which affects one in 75 people of European descent. The genetic mutation identified alters a key component of the biological clock, causing people to stay up late and sleep in late.
Scientists use a custom robot to survey how mutations in regulatory regions of the genome affect animal development, revealing that most mutations alter gene expression in some way. The study finds that regulatory regions encode valuable information densely and that single mutations can have several different effects.
A new study finds that patients with single gene disorders like Bardet-Biedl syndrome carry three times as many additional mutations, clustered around specific genes, which contribute to disease severity. This discovery challenges the traditional view of simple vs complex disorders and opens up new avenues for therapy development.
A preliminary study has identified several genetic mutations associated with a reduced risk for postpartum hemorrhage. The common theme among these mutations is their proximity to genes linked to the immune system.
A new study has identified mutations in single genes that can cause cerebral palsy, challenging the long-held notion that the disorder is caused by environmental factors. The research found that many of these mutations occur randomly and are not inherited from parents, but rather arise during development.
Researchers at Lund University developed a computational model to detect and identify genetic mutations in breast tumours using RNA sequencing. The study found that almost 87% of patients had at least one mutation for which potential drugs exist, with specific genes like PIK3CA associated with good prognosis.
Researchers found people with pale-colored melanomas are more likely to have an albinism gene mutation, which prevents brown pigment synthesis and increases skin cancer risk. This discovery could lead to personalized medicine and earlier treatment for patients with one mutated albinism gene.
A study found that at least 3.5% of patients with severe COVID-19 have genetic mutations in antiviral defense genes and 10% create 'auto-antibodies' that harm the immune system. These findings provide a potential explanation for why some people develop severe forms of the disease.
Researchers found a strong correlation between genetic mutations PiZ and PiS and increased COVID-19 mortality rates in countries with higher mutation prevalence. These mutations lead to alpha1-antitrypsin deficiency, protecting lung tissues from damage.
People with pale-colored melanomas are more susceptible to developing rare genetic mutations associated with albinism. Researchers plan to collect samples to compare genotype and develop personalized monitoring for patients with one albinism gene mutation.
A new study has identified 32 genes responsible for inherited hearing loss in Israeli Jewish families, including a previously unknown gene mutation. The research provides immediate implications for genetic counseling and personalized treatment options for patients with hearing loss.
Researchers have discovered a shared protein fingerprint in patients with the most severe manifestations of hypertrophic cardiomyopathy, a common inherited heart disease. This finding suggests that treatments targeting these similarities could be effective in treating multiple patient varieties.
Researchers, led by University of Delaware biologist Shuo Wei, have won $1.8 million in NIH support for their study on birth defects caused by genetic mutations in neural crest stem cells. The study focuses on the DDX3X gene and its role in developmental disorders.
A large international consortium study found over 5,000 genetic mutations affecting blood characteristics worldwide. Researchers identified specific mutations linked to increased lymphocyte levels in South Asian populations, highlighting potential risks and treatment targets.
A new study identifies a specific gene's role in fertility, finding mutations in this gene are associated with early menopause. The researchers used genetic techniques to find genes involved with eye development and discovered the gene is essential for reproductive organs.
Researchers at Tokyo University of Agriculture and Technology have developed a nanopore technique that can detect single-point mutations in circulating tumor DNA (ctDNA) with high accuracy. The method uses statistical analysis to identify the position of genetic mutations, paving the way for earlier and safer tumor detection.
Researchers at Mount Sinai Hospital have discovered a novel genetic sequencing technology that identified the cause and treatment of a previously unknown severe auto-inflammatory syndrome. The technology, tailored to the patient's own genetic code, pinpointed an unknown mutation in the JAK1 gene causing permanent immune system activation.
Researchers at the University of Pennsylvania have identified a new genetic cause of Charcot-Marie-Tooth disease, a debilitating neurodegenerative disorder that affects nearly one in two thousand people. The discovery sheds light on the genetic underpinnings of the disease and may hold answers to new gene therapies.
A study published in Science found that a large mutation called a 'supermutation' affects the coloration of North American stick insects, transforming continuous variation into discrete color morphs. This discovery provides insights into how genetic variation is packaged into biological diversity, such as morphs and species.
Researchers identified a strong bias towards U residues in SARS-CoV-2 mutations, suggesting a defense mechanism to degrade the virus. Natural selection allows the virus to adapt, but mutational processes may be hindered by human proteins.
Researchers have identified a rare mutation of the TP53 gene that leaves individuals at a higher risk of developing multiple types of cancer over their lifetime. This mutation is most commonly found in the Ashkenazi Jewish population and may confer a lower lifetime risk compared to classic Li-Fraumeni syndrome.
Biomolecular engineers at Rice University have developed a gene-editing technique that dramatically enhances the accuracy of CRISPR-based edits. The new technique, called A3G-BE, precisely modifies single targeted cytosine mutations while minimizing unwanted editing, showing significant success in treating disease-relevant contexts.
Researchers found that mice with a common genetic mutation in autism spectrum disorder had delayed and weaker blood vessel responses, which led to neuronal dysfunction and autistic traits. The study suggests that problems with blood vessels begin early in life and can contribute to the development of autism.
A study published in Nature found that blood cell mutations linked to leukemias become inevitable as people age, especially in the Japanese population. The research identified genetic variations associated with increased risk of these mutations, which can be detected through a simple blood test.
Scientists have identified long-concealed genetic mutations in tomatoes using a new technique called long-read sequencing. The analysis reveals that these mutations can alter key characteristics such as flavor and weight. By studying the impact of these mutations, researchers hope to create new tomato varieties with improved traits.
Researchers at the University of Maryland School of Medicine have identified a new genetic defect linked to amyotrophic lateral sclerosis (ALS), a devastating condition causing progressive paralysis and mental deterioration. The discovery may lead to new treatments for ALS, with potential implications for other neurodegenerative diseases.
Researchers used a new genetic engineering technique, known as base editing, to repair a single mutation in the Tmc1 gene, restoring partial hearing in mice. The technique has potential for treating other genetic forms of hearing loss and diseases.
A new study from UCL-led researchers has identified the earliest brain changes due to Huntington's disease, detecting damage 24 years before clinical symptoms appear. The findings provide vital insights into the optimal time to initiate treatments, potentially delaying or preventing neurodegeneration.
A new study compares the distribution of mutations in human tumours to those in chimpanzees and gorillas. The research reveals that human tumours accumulate mutations in regions similar to those found in non-human primates, challenging previous theories on the genetic causes of cancer.
Researchers identified a new gut-brain connection in ALS, finding that altering the gut microbiome can prevent or improve disease symptoms in mice with a common genetic mutation. The study suggests that the gut microbiome may influence disease severity and could be a target for therapy.
A recent study by University of Zurich researchers has identified a key mechanism controlling brain development and cognitive function. The study found that a lipid metabolism enzyme, fatty acid synthase (FASN), regulates the lifelong activity of brain stem cells, leading to reduced division and learning deficits.
A new subtype of myelodysplastic syndromes (MDS) has been proposed based on the presence of a genetic mutation, known as SF3B1. This subtype is characterized by ineffective production of red blood cells and may benefit from treatment with luspatercept.
Researchers have identified ATP10B as a novel risk gene for Parkinson's disease, revealing its role in transporting glucosylceramide, a lipid critical to the disease's pathogenesis. Mutations in this gene can lead to neuronal loss and increased sensitivity to environmental risk factors.
A study has uncovered a mechanism explaining how genetic mutations lead to nephrotic syndrome, a rare genetic kidney disorder. The researchers found that disruptions in the recycling of cell membranes cause abnormal kidney cell structure and function.
Researchers identified a novel mutation in the S6K1 enzyme that affects protein synthesis and is associated with altered cognitive abilities in children with autism spectrum disorder. The study found that this mutation changes the course of normal neural development and memory forming capacity.
Researchers identified 15 potent tumor suppressor genes that, when mutated, triggered rapid growth of HNSCC in mice. These genes include ADAM10 and AJUBA, which are also mutated in human HNSCC. The study reveals the identity of rare driver mutations in tumor-suppressing genes using a mouse-based CRISPR screen.
A recent study of over 4,500 postmenopausal women diagnosed with breast cancer found that about 1 in 40 have BRCA1 or BRCA2 gene mutations. These mutations increase the risk of other cancers, including ovarian cancer, and may benefit from genetic testing.
Scientists have found that 'silent' genetic variations in DNA sequences can significantly impact protein folding, impairing cell function. The study, conducted by the University of Notre Dame, used a bacterium to test this hypothesis, finding that synonymous mutations can alter protein synthesis rates.
A new data analysis tool has been developed to study the formation of zebrafish stripes, enabling scientists to objectively test ideas about how patterns are formed. The algorithm uses topological data analysis to quantify attributes of shapes and patterns, providing a more objective approach to understanding developmental processes.
Researchers identified a genetic mutation affecting cellular oxygen sensing and a patient's limited exercise capacity. The von Hippel-Lindau gene is fundamental for cells to survive in low-oxygen conditions, and its impaired functionality limits the patient's exercise capacity compared to those without the mutation.
Researchers question the idea that human language arose instantaneously through a single gene mutation, proposing instead a gradual evolution through accumulation of smaller biological changes. They argue that the cognitive operation Merge, key to human language, evolved gradually over time.
A clinical research program at Columbia University Irving Medical Center will treat eight more ALS patients with FUS mutations using the investigational therapy jacifusen. The program aims to expand access to treatments for rare ALS subtypes associated with gene mutations.
Researchers resurrected mammoth DNA and found unique genetic mutations affecting neurological development, male fertility, insulin signaling, and sense of smell. The study suggests that the small population's genetic defects may have hindered their survival.
Researchers identified germline mutations in the MBD4 gene as a driver of somatic mutations in cancer genomes, accelerating the clock-like mutational process. This discovery has significant implications for understanding cancer development and may lead to personalized screening and early intervention strategies.
A genetic study of schizophrenia in South African Xhosa individuals reveals a higher prevalence of rare damaging mutations in those with the disorder. The findings provide insights into the universal nature of human biology and can inform new treatments for schizophrenia.
A research team has identified a mechanism that triggers a rare type of muscular dystrophy, Limb-girdle muscular dystrophy (LGMD) 1G. The study reveals that a specific protein isoform with two domains is prone to forming toxic aggregates, while another isoform with three domains can prevent aggregation through phase separation.
A new study of Asian genes aims to improve disease treatment and care by shedding light on human migration history. The research will create detailed reference databases for Asian populations, helping medical researchers identify genetic differences that can cause diseases.
A team of researchers created the first cellular model of chronic granulomatous disease (CGD), a rare genetic condition that causes severe infections. The study's findings suggest that restoring NADPH oxidase function in defective cells could help develop new and more effective treatment strategies.