Articles tagged with Mutation
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A study of female childhood cancer survivors found that genetic profiling can identify high-risk individuals for subsequent breast cancer. Polygenic determinants and rare mutations significantly contribute to breast cancer risk, with a notable age-specific association in younger women.
Researchers used next-generation RNA sequencing to investigate mitochondrial tRNAs in patients with MERRF, a common inherited disorder. The study found quantitative changes in tRNA abundance and methyl modifications that affect protein synthesis within mitochondria.
A study found that female-specific genetic mutation ATRX increases susceptibility to pancreatitis and pancreatic cancer. The research team discovered that deleting the gene in females led to increased progression to cancer, while males with the mutation experienced reduced risk of injury and progression to cancer.
Scientists have discovered a genetic mutation that increases the amount of dangerous fungal spores in the lungs, making people more susceptible to Aspergillus infections. A new test could detect this mutation and screen patients at risk from lethal fungal spores.
Researchers have analyzed nearly 4,000 mutations in the BRCA1 gene, shedding light on its role in breast and ovarian cancer. The findings provide immediate benefits to patients with previously inconclusive genetic test results, enabling clinicians to better interpret variant of uncertain significance.
A new study finds that individuals with a disease-associated mutation can have vastly different symptoms due to the total amount of rare mutations in their genome. The researchers discovered a correlation between the number of mutations and cognitive development, IQ scores, and head size.
A new study from Stanford University School of Medicine identifies patterns in genetic data that can predict a person's risk for abdominal aortic aneurysm, a common and often fatal cardiovascular disease. The method uses machine learning to analyze genomic data and identify complex mutational patterns associated with the condition.
Researchers have discovered a link between MUC16 gene mutations and higher tumor mutation loads in gastric cancer patients, which may improve response rates to immunotherapy. The study's findings could open up new treatment options for up to 38% of gastric cancer patients.
Researchers have identified a genetic mutation and faulty development process that causes a debilitating brain-based disorder in children. The mutation, in the alpha-N-catenin gene (CTNNA2), leads to abnormal cell adhesion and impaired neuronal migration, resulting in severe intellectual impairment and limited life expectancy.
Researchers found that people with the rare disease have genetic mutations in CIB1, EVER1, or EVER2, which compromises their immune response to ß-HPVs. The study revealed that ß-HPVs can replicate and cause skin lesions and cancer when this defense mechanism is disrupted.
A TGen-led study has identified a mutated gene, FBXO28, as the likely cause of a 3-year-old girl's severe neurological symptoms. The research found a frameshift mutation in the gene that led to a cascade of symptoms, including developmental delay and intellectual disability.
Researchers can now access eight new mouse models carrying genetic mutations found in patients with late-onset Alzheimer's disease. These models express variants at genetic loci associated with the disease but not yet proven to be causative, offering a significant advancement in AD research.
UNIGE researchers identified a new gene, MARK3, as the cause of a recessive genetic disorder leading to childhood blindness. The discovery enables accurate diagnosis and may lead to personalized treatment options.
A new AI framework, ExPecto, predicts the effects of genetic mutations in the 'dark matter' regions of the human genome. The framework pinpointed mutations potentially responsible for increasing the risk of several immune-related diseases, including chronic hepatitis B virus infection and Crohn's disease.
Researchers at Jackson Laboratory explore APOEε4 mutation role in Alzheimer's disease, interacting with up to 20 other implicated genes. The study uses diverse mouse populations to understand complex genetic mechanisms underlying the disease.
Researchers at Harvard Medical School identified inherited and acquired mutations that drive clonal hematopoiesis, an age-related white blood cell condition linked with higher risk of certain blood cancers and cardiovascular disease. The study found that inherited genetic variants can influence the acquisition of later-life mutations.
Researchers used a peptide nucleic acid-based gene editing technique to successfully cure a genetic condition in mice. The treatment corrected 6% of mutations and caused dramatic improvements in symptoms, suggesting a promising new approach for treating genetic disorders during early stages of development.
Researchers used precision genomics to identify new genetic abnormalities associated with short telomeres, which can cause premature aging. The study aimed to find better ways to screen, diagnose, and treat patients with these rare conditions.
Research identifies brain-only MTOR mutations as a key factor in causing cortical malformations, intellectual disability, and developmental delay in children. The study found that disrupted ciliary formation leads to cortical dyslamination, providing new insights into the molecular mechanisms of FMCDs.
Researchers identified four TRAF7 mutations in seven patients with a similar multisystem disorder, associated with developmental delay, congenital heart defects and limb anomalies. The mutations reduced ERK1/2 pathway activity, suggesting a possible genetic link to the condition.
A genetic mutation in FOS and its relative FOSB has been identified as a hallmark of osteoblastoma, distinguishing it from the more aggressive osteosarcoma. This discovery will enable clinicians to correctly diagnose osteoblastoma and direct appropriate treatment.
Researchers discover that people with monogenic obesity can lose weight with liraglutide, a modified form of GLP-1 hormone. The medicine has a positive effect on reducing hunger and body weight, even for those who respond poorly to existing treatments.
Researchers identified epigenetic mutations as significant contributors to neurodevelopmental disorders and congenital anomalies. The discovery could lead to advanced diagnostic tools, say researchers from the Icahn School of Medicine at Mount Sinai.
Researchers discovered a genetic mutation in troponin T that disrupts the heart's ability to increase pumping force when needed. This limits the heart's capacity to pump additional blood around the body, potentially leading to severe consequences for individuals with hypertrophic cardiomyopathy.
Researchers analyzed the survivability of RNA-containing viruses, discovering that inaccurate genetic copying helps them adapt to adverse conditions. The study found that viruses can repair damaged elements or evolve new properties to compensate for damage, ensuring their survival and persistence.
Researchers have discovered novel chromosomal mutations contributing to fosfomycin resistance in E. coli, with uhpB and uhpC mutations showing highest impact. The study found that these mutations rendered the antibiotic ineffective at lower doses compared to other mutations.
Researchers at Cold Spring Harbor Laboratory have discovered a genetic mutation associated with intellectual disability, developmental delays, autism spectrum disorder, and congenital cardiac anomalies. The mutation, in the NAA15 gene, is linked to Ogden syndrome, a more severe condition also caused by a mutation in the NAA10 gene.
Researchers have used CRISPR gene editing to introduce beneficial natural mutations into blood cells, boosting their production of foetal haemoglobin. This approach may lead to new therapies for sickle cell anaemia and thalassaemia by targeting precise changes in the genome.
A case-control study in the UK and USA found rare genetic mutations associated with impaired breathing muscles in children who died from sudden infant death syndrome. The study suggests a possible genetic element to the disorder, but more research is needed to understand the link and potential treatments.
A genetic mutation in EPAS1/HIF2A gene is found to be the main reason for the development of adrenal gland tumors in adults with cyanotic congenital heart disease. The study also reveals that patients with this severe type of heart disease have a sixfold higher risk of developing these tumors.
Researchers identified new genetic mutations in cancer cells that promote survival and resistance to treatment. The study found that no two cancers were genetically identical, even among those with similar characteristics.
A Stanford-UCSF study has analyzed the mysterious Ata skeleton, a human fetus with severe genetic mutations, revealing multiple genes contributing to bone deformities and dwarfism. The comprehensive genomic analysis adds new mutational variants to the repository of known disease-causing genes.
Researchers found that polygenic risk scores, which were originally developed to predict first breast cancer risk, can also quantify the risk of a second breast cancer in BRCA carriers. This technology has been shown to be effective in predicting the risk of a second breast cancer in women with high-risk BRCA gene mutations.
A new study by Mayo Clinic and international researchers found that genetic mutations associated with heart disease account for approximately 5% of SIDS deaths. The findings contradict previous estimates suggesting a higher prevalence of these genetic mutations in SIDS cases.
Researchers mapped gene expression levels to understand how mutations affect traits, finding non-linear relationships that aren't proportional to the level of mutation. This discovery helps improve prediction accuracy for diseases like cleft lip and palate.
A study identified 149 variants in 22 genes, classifying them as pathogenic or likely pathogenic, and found NPHS2 was the most common mutated gene. The researchers hope to understand the correlation between genotype and phenotype to improve diagnosis and treatment for patients with nephrotic syndrome.
Researchers from Brown University have developed a new method, SWIF(r), to detect adaptive genetic mutations. The technique combines multiple statistical tests into a single machine-learning framework, allowing for more accurate identification of beneficial mutations and shedding light on the evolutionary history of populations.
A team of scientists developed an algorithm that accurately pinpoints mutations favored by natural selection, shedding light on the specific mutations responding to selection pressure. The iSAFE algorithm reliably identifies favored mutations in large genomic regions without needing function information or demographic data.
A genetic study reveals that multidrug-resistant malaria in southeast Asia originated from a single mutation combination in 2008, which spread rapidly across the region before becoming apparent in 2013. The study highlights the need for close monitoring of genetic mutations to mitigate resistance and prevent further outbreaks.
A European Society of Cardiology study found that four in ten cardiomyopathies in young people are genetic. Family screening is crucial to detect the disease in apparently healthy relatives and prevent early death. The study also highlights the need for earlier diagnosis and better diagnostic tests, including genetic testing.
Researchers found a higher frequency of LRRK2 gene mutations in Ashkenazi Jewish patients with Crohn's disease, which also increases the risk of developing Parkinson's disease. The study's findings could lead to better understanding and treatment of both conditions.
Researchers have discovered a link between ADCY3 gene mutations and severe obesity, which can lead to appetite control abnormalities, diabetes, and anosmia. This finding offers new hope for the development of targeted treatments for obesity.
Researchers have identified a low incidence of disease-causing IGF mutations and common polymorphisms in the IGF protein family. Dr. Rotwein's analysis suggests that most medical problems associated with IGF mutations are not caused by rare genetic mutations, but rather by prevalent genetic variations within the human population.
Researchers found significant disparities in liquid biopsy results from Guardant360 and Personal Genome Diagnostics for patients with metastatic prostate cancer. Inconsistencies were found even when analyzing DNA from the same blood sample, highlighting the need for improved certification and quality control.
A study published in Nature Communications reveals a genetic mutation in the C9orf72 gene causes a vicious cycle of toxic protein production, driving neuronal death in ALS. The researchers found that cell stress activates more toxic protein production, creating a loop that potentially drives disease progression.
A new nanomapping technology combines high-speed atomic force microscopy with a CRISPR-based chemical barcoding technique to map DNA nearly as accurately as DNA sequencing. The technology can process large sections of the genome at a much faster rate, using parts found in DVD players.
A KAIST research team has identified a mutant gene network in colon cancer, which could lead to the development of effective anti-cancer drugs. The study used large-scale genomic data to construct a mathematical model on the cooperative effects of multiple genetic mutations found in gene interaction networks.
A recent study identified 8 new genes involved in epileptic encephalopathy, a severe form of epilepsy combining with intellectual disability. Whole-genome sequencing revealed de novo mutations as the main cause of this type of epilepsy.
A recent study found that genetic variants in epithelial sodium channels may help rehydrate the airways of cystic fibrosis patients, reducing bacterial build-up and promoting stable lung function. This discovery brings ENaCs into the spotlight as a potential new therapeutic target.
A new study from Penn researchers reveals how genetic variants in the TMEM106B gene lead to disease by affecting cellular structure and promoting abnormal lysosome activity. This breakthrough provides insight into a major cause of dementia in young adults and may lead to development of new therapeutics.
Researchers have unraveled a direct link between LRRK2 protein dimerization and genetic mutations in Parkinson's disease. This process could lead to a promising new therapy route, as the kinase inhibitor causes lung and kidney problems.
A team of researchers used stem cell technology to generate motor neurons from ALS patients with FUS mutations, revealing axonal transport defects. Genetic correction and pharmacological inhibition of HDAC6 restored axonal transport, suggesting a potential therapeutic approach for ALS.
A genetic mutation has been identified as a key factor in the development of intervertebral disc disease (IVDD) in short-legged dog breeds, including dachshunds and French bulldogs. The discovery provides a valuable tool for owners, breeders, and veterinarians to mitigate the risk of IVDD and related spinal cord disease.
Researchers have identified several genes associated with congenital heart disease, including FLT4 and GDF1, which may help predict risk for future offspring. The study also found that de novo mutations in certain genes are common among CHD patients, potentially leading to neurodevelopmental issues.
Researchers developed a customizable mouse model of leukemia using multiplex CRISPR-Cas9 editing and human hematopoietic stem cells. The models accurately reflect human responses to therapeutic agents commonly used to treat blood cancers. This breakthrough may aid drug discovery and clinical trials.
Researchers at the University of Copenhagen have discovered a new cattle disease called Facial Dysplasia Syndrome, which causes facial deformations and breathing problems in young calves. The disease is linked to a genetic mutation found in semen from one breeding bull, and its identification could help prevent further cases.
A unique mutation in the ACMSD gene has been identified in a 74-year-old man with Parkinson's disease, which may be linked to an increased risk of neurodegeneration. This discovery could lead to a better understanding of the disease and potentially inform the development of new therapeutic strategies.
A new clinical investigation is testing whether genetic screening can identify patients with a specific mutation who are the best candidates for deep brain stimulation surgery. The study aims to determine how this genetic information can inform surgical decisions and potentially improve outcomes for Parkinson's disease patients.
Researchers discovered postzygotic mosaic mutations, which occur after conception, contribute to autism risk in 3-4% of individuals. These 'silent' mutations alter genetic message stitching and may increase risk by 1-2% for genes essential for development.
A comprehensive genomic analysis of Wilms tumor identified genetic mutations involving a large number of genes, converging into two major pathways that lead to cancer. The study offers new opportunities for treatment by targeting these processes instead of individual genes.