Articles tagged with Mutation
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Researchers identified a strong association between an East-Asian specific mutation and increased risk of wet AMD, highlighting the importance of HDL metabolism in the disease's pathogenesis. The study also uncovered three new genes linked to AMD for the first time.
A study by UNC School of Medicine researchers identified genetic pathways that play a major role in determining the severity of cystic fibrosis. The findings may lead to new personalized treatments to lessen pulmonary symptoms and increase life expectancy for people with CF.
Researchers found that segments of human genome with low recombination rate carry a higher proportion of disease-enabling genetic mutations, which are eventually shuffled off through sexual reproduction. This discovery can help scientists identify and develop effective treatments for diseases.
Researchers at the University of Adelaide have discovered that at least 14% of cerebral palsy cases are caused by genetic mutations. This groundbreaking finding has significant implications for the diagnosis, management, and treatment of the condition.
Researchers used a new whole-genome sequencing method to detect potential disease-causing mutations in human IVF embryos, detecting 82% of single base de novo mutations. The technique, which uses DNA barcodes and advanced sequencing technology, can help identify the cause of congenital disorders such as intellectual disability and autism.
A Tel Aviv University researcher has successfully identified a novel genetic mutation in a rare disease using whole exome sequencing and crowdfunding. The study, led by Dr. Noam Shomron, used DNA sequencing of a three-year-old girl and her family to reveal the genetic cause of her symptoms, which included mental retardation and severe ...
Researchers develop a technique to label and track new DNA pieces, revealing hotspots for genetic flaws. These sites are crucial regulatory switches that can lead to genetic diseases or cancer.
Researchers produced method protecting animal models from Syngap1 gene mutation effects, disrupting memory and anxiety levels. Early developmental period critical for treatment of psychiatric disorders caused by damaging Syngap1 mutations.
Researchers at Penn Medicine have discovered a mutated ATRX gene as a potential biomarker for aggressive brain tumors and rare adrenal tumors. The study found that 13% of tumors had ATRX mutations, which were more common in clinically aggressive cases.
A genome-wide study of the malaria parasite reveals a complex genetic architecture that enables artemisinin resistance. Researchers found 20 mutations in the kelch13 gene and four other genes that work together to support resistance, but monitoring specific genetic backgrounds could help target high-risk regions.
A Canadian-Japanese research team has identified a shared genetic mutation responsible for an inherited metabolic disorder, glycogen storage disease type IIIa, in Inuit populations in northern Quebec. The mutation affects approximately 1 in 2500 people in Nunavik and can cause enlarged livers, hypoglycemia, and muscle weakness.
A large-scale study found rare genetic mutations in three genes (GRASP, GSDMB, and MTHFR) associated with asthma risk, but only in specific ethnicities. These findings suggest gaps in the current understanding of asthma genetics.
A new study has identified genetic mutations in the titin gene that cause dilated cardiomyopathy (DCM), a leading cause of inherited heart failure. The study provides information that will help screen high-risk patients and develop therapies to prevent or treat heart disease caused by titin mutations.
A new study found that mutations in the telomerase reverse transcriptase (TERT) gene increase the risk of emphysema in smokers. Female smokers with these mutations may be more susceptible to the disease. The researchers also discovered a link between telomere shortening and other health problems, such as osteoporosis and liver disease.
Researchers analyzed 5,040 evolutionary paths of human color vision, finding that 4,008 trajectories are terminated prematurely due to nonfunctional pigments. The study's findings emphasize the importance of understanding molecular evolution and genetic engineering in decoding protein mutations' effects.
A new deep learning model has revealed unexpected genetic determinants of autism, colon cancer, and spinal muscular atrophy by analyzing mutations in 'gene splicing.' This approach has led to the identification of 39 new genes potentially linked to autism spectrum disorder, a 40% increase from previously known genes.
Researchers at the University of Toronto developed a machine learning method to rank genetic mutations based on their likelihood of causing disease. The technique successfully predicted 94% of known genetic culprits behind diseases such as spinal muscular atrophy and colorectal cancer, and identified novel genes in autism susceptibility.
Researchers used targeted NGS to identify genetic alterations in genes involved in DNA repair, cell survival, and proliferation pathways. The study found that accumulated mutations correlate with tumor progression and decreased survival rates in patients with advanced malignant lung cancer. The results highlight the potential of NGS to...
A unique genetic disorder responsible for ovarian insufficiency has been discovered by Tel Aviv University researchers. The SYCE1 gene mutation was found to be the underlying cause of primary ovarian insufficiency in two sisters, and its effects were also detected in three brothers and parents.
Researchers found that long-lasting hosts evolved more complex defenses against parasites, providing a survival advantage. The study used the Avida platform to model co-evolution between host and virus, revealing a surprising large proportion of 'switching' mutations in co-evolved hosts.
Researchers found 26% of sporadic ALS patients carry potential mutations in known ALS genes, suggesting genetic errors contribute to significantly more cases. Mutations in multiple genes can accelerate disease onset.
A comprehensive genetic study found that more patients with ALS have a genetic origin than previously believed. Patients with mutations in multiple genes experience earlier disease onset. The study suggests that genetics may play a larger role in ALS, potentially affecting over one-third of all cases.
Researchers sequenced RNA of 400 pairs of twins to understand genetic and environmental context on gene expression. They found that both genetic and environmental factors contribute significantly to the way a person's genetic composition is expressed and their risk of developing certain diseases.
Researchers have discovered a single mutation in a gene that explains a significant proportion of unsolved cases of progressive myoclonus epilepsy. The mutation disrupts brain signal transmission, leading to epileptic seizures and muscle twitching starting in childhood.
A new gene has been identified as the genetic cause of a progressive form of epilepsy in nearly one-third of patients. The mutation affects a potassium channel encoding gene KCNC1, which disrupts signal transmission in the brain and causes epileptic seizures and myoclonus.
A 47-year-old woman with intrahepatic cholangiocarcinoma received a uniquely personalized treatment based on her genetic profile, achieving significant tumour shrinkage and symptom improvement. The use of next-generation sequencing revealed a rare BRAF mutation, which was targeted by dabrafenib and trametinib therapies.
Researchers at CNIO have developed a mouse model that expresses the most common K-Ras mutation found in Noonan patients, reproducing its most representative features. The study aims to advance knowledge of the syndrome and develop specific treatments for each mutation.
A groundbreaking study has identified over two dozen high-confidence autism genes, shedding light on the disorder's genetic architecture. The research also reveals a difference in genetic basis between 'higher-IQ' and 'lower-IQ' autism, with implications for early interventions.
Research identifies DNA copy number variation (CNV) as the genetic cause behind two male pseudo-hermaphrodite horses' sex identity. The study provides the first hints about likely molecular causes and involvement of CNVs in equine disorders, with potential biomedical significance beyond horse racing.
A new study by researchers at Intermountain Medical Center Heart Institute suggests that lifestyle choices, not just genetics, may contribute to the risk of heart attack. The study found that severe coronary artery disease can be inherited, but the presence of heart attacks in people with less severe disease was not clustered in families.
Research at Washington University School of Medicine found that 2-5% of people over 40 and 70 have genetic mutations linked to leukemia and lymphoma. These mutations may be a precursor to blood cancers but do not guarantee development of the diseases.
Scientists have identified a novel heart and gut disease, named Chronic Atrial Intestinal Dysrhythmia syndrome (CAID), caused by a rare genetic mutation. The disease is characterized by cardiac arrhythmias and intestinal pseudo-obstruction, with patients often requiring invasive treatments and surgeries.
Research reveals a two-and-a-half-fold increase in referrals by GPs for June and July 2013 after Angelina Jolie's announcement, with continued rise through October. The study found that many women with family history of breast cancer were referred for testing, contradicting concerns about 'worried well' individuals.
Researchers at the University of Pennsylvania have identified over 30 previously undiscovered genetic mutations in microRNAs that may influence cancer susceptibility and severity. These mutations were found to be associated with increased risk of certain types of cancer, including breast, ovarian, and prostate cancer, in African popula...
Scientists at MD Anderson Cancer Center have discovered genetic mutations in a subset of endometrial cancer patients that are associated with a more lethal form of the disease. The identification of these mutations could lead to the development of targeted treatments and improved patient outcomes.
A new deep sequencing approach has identified subtle somatic mutations in patients with brain disorders, revealing previously missed genetic causes. The technique complements whole-genome and whole-exome sequencing, enabling the detection of mutations in as few as 10% of patients' blood cells.
Scientists have developed a new gene technique to find disease-causing mutations in patients with brain malformations. The technique uses next-generation sequencing technology to sequence hundreds of copies of genes in a panel of candidate genes, identifying somatic mutations that were previously undetectable.
Researchers developed small-molecule drug candidates that interfere with the synthesis of an abnormal protein, playing a key role in both diseases. The study also discovered biomarkers to test the efficacy of these therapies and found toxic proteins in spinal fluid that could become an enrollment tool in human clinical trials.
Researchers have made significant breakthroughs in understanding the relationship between genetic changes and disease causation using next-generation sequencing technology. Subtle gene changes are now being associated with unique disease presentations, even in previously undiagnosed forms of disease.
Researchers have found an alternative way to model cancer using CRISPR, a gene-editing system that can introduce cancer-causing mutations into the livers of adult mice. This method enables scientists to screen these mutations much more quickly than traditional breeding methods.
A team of scientists has found that genetic changes in a bacterial pathogen may be caused by chance environmental events rather than genetic mutations. The study, published in PNAS, analyzed 149 genomes of Salmonella enterica serovar Paratyphi A and found that the pathogen had not changed dramatically over its 450-year history.
Researchers identified a gene mutation associated with short sleep duration and resistance to sleep deprivation in humans. The BHLHE41 variant allowed some adults to function normally on less than six hours of sleep per night.
A new study found that obese individuals with a specific genetic mutation have similar brain activity when shown appetizing foods, whereas overweight individuals without the mutation showed lower response levels. This suggests a link between the MC4R pathway and food cravings.
Researchers funded by NIH found that common gene variants account for most genetic risk for autism, outweighing other factors. The study used a large Swedish sample and new statistical methods to detect common genetic variation associated with risk.
A study has identified a genetic mutation that may cause parkinsonism in young people, particularly those with Attention Deficit Hyperactivity Disorder (ADHD). The mutation affects the brain's transport of dopamine, leading to movement disorders and mental health issues.
Researchers have identified a genetic link between the CHD8 mutation and autism, affecting approximately half of those with the condition. The study found that individuals with this mutation often exhibit gastrointestinal disorders, sleep disturbances, and distinctive physical characteristics.
Researchers identified an epigenetic signature in blood samples from women with a BRCA1 mutation that increased cancer risk and lower survival rates. The same signature was found in women without the mutation who developed breast cancer, indicating it may predict breast cancer risk several years before diagnosis.
A mitochondrial gene defect in the citrate carrier SLC25A1 may underlie deficits in neuromuscular transmission. Investigators identified a homozygous mutation in this gene in two siblings with congenital myasthenic syndrome, characterized by muscle weakness and fatigability.
Researchers at Scripps Florida have discovered how a specific genetic mutation damages the developing brain, leading to intellectual disability. The study suggests new possibilities for therapeutic intervention and highlights potential biomarkers for cognitive failure.
A significant genetic component of Idiopathic Generalized Epilepsy (IGE) has been discovered, implicating a mutation in the gene for protein cotransporter KCC2. The study found a clear association between two variants of KCC2 and severe IGE in French-Canadian patients.
Researchers discovered a novel drug combination that targets BCL2 protein mutations in follicular lymphoma, a type of non-Hodgkin lymphoma. The study's findings suggest that this combination therapy is safe and effective against mouse models of the disease.
Researchers at Duke University Medical Center have identified a genetic mutation in PPM1D that contributes to the growth and death of tumor cells in brainstem glioma. This mutation may render radiation therapy ineffective, providing immediate clinical benefits and paving the way for new drug development.
A new software tool, pVAAST, has been developed to identify genetic mutations that contribute to an individual's increased risk of developing complex diseases. The tool combines two statistical methods, linkage analysis and association tests, to find disease-causing gene mutations more efficiently.
A new species of cavefish, Amblyopsis hoosieri, has been discovered in southern Indiana and is the first new species described from the US in 40 years. It lacks eyes and vision but maintains a functional rhodopsin gene to navigate dark waters.
The Phase 3 trial demonstrated positive trends in lung function, as measured by relative change in % predicted FEV1, with a 2.5% average difference between ataluren and placebo in favor of ataluren. Additionally, there were 23% fewer pulmonary exacerbations in the ataluren group compared to placebo.
Researchers sequenced blood and brain samples from a 115-year-old supercentenarian to identify somatic mutations. They found approximately 450 somatic mutations in white blood cells, with most being single nucleotide variants, which did not affect genetic fitness.
A new genetic brain disorder has been discovered in humans, caused by a mutation in the CLP1 gene. The disorder affects the human nervous system and is characterized by reduced brain size, sensory and motor defects, and neuronal death.
Researchers identified a previously unknown neurodegenerative disorder caused by a single mutation in the CLP1 gene, found in individuals born during the Ottoman Empire. The study suggests that consanguineous marriages in Turkey contribute to the high prevalence of rare genetic disorders.
Scientists discovered over 400 genetic mutations in the white blood cells of a 115-year-old woman, indicating that these mutations may not contribute to disease. The study also found extremely short telomeres in the blood cells, suggesting 'stem cell exhaustion' as a possible cause of death at extreme ages.
Researchers at UC Davis identified an association between the progressive neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS) and the formation of R-loops, which may be associated with the disorder's neurological symptoms. The study suggests that R-loops could be potential targets for drug development.