Articles tagged with Mutation
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A recent study identified a rare genetic heart disorder, Danon disease, characterized by rapid clinical deterioration and early death in young patients. The study revealed that the natural course of this disease is often fatal, with significant cardiac complications and poor outcomes despite advanced treatment strategies.
A study by the Wellcome Trust Sanger Institute suggests that around 1 in 200 human genes may be unnecessary for human health. The researchers found that single-letter changes in genetic code can disrupt proteins, leading to variations that are either beneficial or have little consequence.
Research from Albert Einstein College of Medicine found that Ashkenazi Jewish men carrying specific gene mutations have a higher risk of developing aggressive prostate cancer. The study identified three particular mutations, including BRCA1-185delAG and the mutated BRCA2 gene, which increased the risk of high-grade tumors.
Researchers at Uppsala University identified fast-evolving human genes with patterns of molecular evolution not driven by natural selection. Instead, biased gene conversion (BGC) speeds up the rate of evolution in certain genes, fixing harmful mutations.
A genetic study found that 4% of Indian subcontinent populations carry a MYBPC3 mutation, associated with a high risk of heart problems. Researchers identify a potential solution through early screening and lifestyle modifications.
Scientists have discovered a new syndrome associated with severe congenital neutropenia, linked to mutations in the G6PC3 gene. The study found that these mutations affect glucose levels, leading to cellular stress and immune system dysfunction, potentially relevant to other diseases.
UBC researchers have discovered a gene mutation in GNAQ that is responsible for 45% of uveal melanoma cases. This finding may lead to the development of therapeutic interventions against some melanomas.
A team of researchers has discovered MEDNIK Syndrome, a debilitating genetic syndrome characterized by mental retardation, enteropathy, deafness, and peripheral neuropathy. The AP1S1 gene mutation causes this disorder, affecting development in the skin and spinal cord.
Research by the M.I.N.D. Institute shows that mutations of the fragile X gene cause a range of diseases, including neurodevelopmental delays, autism, infertility, and neurodegenerative disease in older adults. The institute urges testing for all patients who show signs of diseases linked to FMR1 mutations.
A study published in JAMA Network found an association between male birth defects and certain genetic mutations, including Klinefelter syndrome and INSL3 receptor gene mutations. The research suggests a higher risk of infertility and testicular cancer in men with cryptorchidism, highlighting the importance of genetic testing.
Researchers have identified a gene mutation in Dalmatians that causes high uric acid levels and bladder stones, which can be eliminated through breeding programs. The SLC2A9 gene, also found in humans and great apes, is responsible for the elevated uric acid levels in Dalmatians.
Researchers propose that organisms can learn environment rules and develop modular designs storing history information in their genome, generating useful novelties for new environments.
A recent study suggests that seasonal affective disorder (SAD) may be linked to a genetic mutation in the eye's melanopsin gene. Individuals with this mutation are five times more likely to experience SAD symptoms, highlighting a potential genetic predisposition to the condition.
A new mouse mutant has been identified that mimics human progressive hearing loss, with features in common with existing forms of deafness. The mutation affects the Atp2b2 gene, leading to degeneration of hair cells in the inner ear.
Researchers at Washington University School of Medicine have identified the first gene linked to clubfoot in humans, PITX1. The mutation was found in all affected family members and carriers, providing a crucial step towards improved genetic counseling and novel therapies.
Researchers discovered that a naturally occurring gene mutation in worms leads to reduced sensitivity to alcohol's effects, enabling the body to consume more without adverse reactions. The study suggests potential applications in identifying individuals with a predisposition to alcoholism.
Researchers have discovered 26 new genes linked to lung adenocarcinoma, a type of non-small cell lung cancer. The study's findings suggest that these genetic alterations can be targeted with specific treatments, offering new hope for patients.
Researchers at Children's Hospital of Pittsburgh identified a genetic mutation associated with organ rejection in children. The study used a novel combination of genetic technologies to analyze DNA samples from 80 children who received liver transplants and their parents.
A genetic mutation in the Prion Protein Gene is linked to mad cow disease, according to a new study by Kansas State University researcher Juergen A. Richt. The mutation affects less than 1 in 2,000 cattle and can be combated through selective breeding and culling of genetically affected animals.
A Stanford study found that computer models used to identify breast cancer mutations in white women were less accurate for Asian women. The researchers sequenced the genes of 200 Asian-American women and compared them to the models' predictions, finding that both programs performed poorly in predicting the presence of mutations. This u...
Researchers found that computer models underpredicted BRCA mutation frequency in Asian-American women by 50% compared to Caucasian counterparts. This suggests that more women of Asian descent may be at increased risk of hereditary breast and ovarian cancers than previously believed.
Genetic mutations and lower growth rates found among crustaceans in Parramatta River due to heavy metal exposure, suggesting permanent negative impacts on species fertility and survival. Researchers used a sensitive test organism, Melita plumulosa, to assess toxicity of marine sediments.
A Phase 2 trial of PTC124 demonstrated statistically significant improvements in CFTR-mediated chloride transport and lung function in patients with nonsense-mutation CF. The study showed that PTC124 induced chloride transport responses across various patient genotypes, offering a potential new treatment paradigm for this genetic disease.
A study by Uppsala University has identified the genetic mutation responsible for white horses' coats and found a link to an increased risk of melanoma. The dominant Greying with age mutation is shared among Grey horses, suggesting a common ancestor lived thousands of years ago.
Researchers developed computer models of RNA molecules evolving by mutation and natural selection, showing that optimal organisms often require a long sequence of interacting mutations. This challenges the idea that natural selection always leads to the best possible organisms in the long run.
Researchers identified six genes associated with autism by analyzing large Middle Eastern families where both parents shared a recent ancestor. The study suggests that these genes affect learning and memory, and may be treatable through gene therapy or enriched learning environments.
A new microchip-based device can analyze tumor cells in the bloodstream to identify genetic signatures of dangerous lung cancers, enabling targeted treatment and monitoring. The device detected mutations 92% of the time and showed promise for non-invasive continuous monitoring.
Researchers have found that aminoglycosides and a new compound NB30 can suppress nonsense mutations in Usher syndrome, potentially delaying vision loss. The study aims to develop therapy to delay the progression of USH1-related disease.
Researchers discovered a new family of genetic mutations involved in inflammatory intestinal diseases, including coeliac disease and Crohn's disease. The study found common origins for the two diseases and identified eight new areas with genes controlling immune responses.
Scientists have identified a genetic mutation responsible for impaired fetal movement, which can lead to multiple miscarriages and birth defects. The mutation affects the acetylcholine receptor pathway, disrupting normal muscle function and fetal development.
A study found that people with nonfamilial schizophrenia harbor eight times more spontaneous mutations than healthy controls, primarily affecting brain development pathways. This suggests that rare genetic variations contribute to the vulnerability of individuals without a family history of the illness.
A study by Columbia University Irving Medical Center researchers has identified rare spontaneous copy number mutations in the genomes of individuals with schizophrenia, accounting for at least 10% of non-familial cases. These genetic mutations were found to be present in affected individuals but not in their biological parents.
Human cells have a natural surveillance system called nonsense-mediated mRNA decay (NMD) that detects and eliminates flawed mRNAs, which can cause genetic diseases. The study reveals that repression of protein synthesis during NMD is controlled by the attachment of phosphate groups to human UPF1.
Recent research has identified seven LRRK2 gene mutations associated with Parkinson's disease, including a rare mutation that doubles the risk in ethnic Chinese. The findings suggest that genetic influences passed down through generations can significantly increase susceptibility to the disease.
A new mouse model has granted insight into the genetic and molecular mechanisms underlying acute myeloid leukemia. The study reveals that a specific mutation triggers innate genetic programmes allowing white blood cells to proliferate uncontrollably.
Researchers at Yale University have discovered that rare genetic variants can be associated with a significantly lower risk of developing high blood pressure. The study found that individuals carrying one defective copy of a gene had a 60% lower risk of developing hypertension by age 60 compared to the general population.
Researchers at Howard Hughes Medical Institute identified functional mutations in three genes that contribute to blood pressure variation in the general population. These mutations, present in approximately 2% of the population, are associated with a 60% reduction in the risk of hypertension.
A team of researchers found that deletions and duplications of DNA are more common in people with schizophrenia, affecting genes related to brain development and neurological function. The study suggests that schizophrenia is caused by many different mutations in many different genes.
Researchers at the University of Manchester have successfully treated mice with Treacher Collins syndrome, a rare genetic disorder, by preventing premature cell death. The breakthrough could lead to early treatment of at-risk babies in the womb.
Researchers have identified the molecular mechanics behind Severe Congenital Neutropenia (SCN), a deadly disease characterized by a deficiency of neutrophils. The discovery of GFI1's role in regulating neutrophil development has provided new avenues for understanding the molecular basis of SCN.
Researchers investigated how genetic background and environmental factors impact NPC disease in mice. Results show a wide range of lifespan outcomes, averaging from 50-130 days, suggesting complex interactions between genetics and environment.
Researchers found a significant link between alcohol intake and increased blood pressure, even among moderate drinkers with the *1 *1 genotype. This study challenges previous findings and suggests that alcohol may be a more significant risk factor for hypertension than previously thought.
Researchers at Columbia University Irving Medical Center discovered a new gene involved in determining hair texture in humans. Mutations in P2RY5 cause hereditary woolly hair, which is characterized by coarse, dry, tightly curled and sparse hair.
A Yale University study suggests that compromised DNA repair processes may lead to widespread mutations and an increased risk of cancer. The research found that the immune system's somatic hypermutation process, which introduces random mutations in B cells' antibody genes, is a key factor in the development of lymphoma.
Scientists propose using chemical compounds to 'chaperone' mutant protein molecules, improving their folding and function. This approach may also be applicable to cystic fibrosis, a lung and digestive system disorder.
Researchers identified a new inherited dystonia syndrome, DYT16, characterized by axial muscle involvement and sardonic smile. The condition is caused by a mutation in the PRKRA gene and follows a recessive mode of inheritance.
Researchers identified a significant association between genetic mutations in the TLR4 gene and inflammatory injury to the placenta, increasing the risk of preterm birth. Women with this mutation were five times more likely to experience placental inflammation, while babies with the mutation faced nearly five times the risk.
Researchers identify genetic mutations in MTHFR and Factor V as significant contributors to blood clots and tissue injury in the placenta. These mutations may lead to increased risks of preterm birth, intrauterine growth restriction, and preeclampsia.
A team at the University of Copenhagen discovered that people with blue eyes have a single common ancestor due to a genetic mutation in the OCA2 gene. This mutation resulted in reduced melanin production in the iris, effectively 'diluting' brown eyes to blue. Brown-eyed individuals exhibit more individual variation in their DNA.
Scientists have identified a number of genes involved in Lupus, a complex condition that frequently causes skin rash, joint pains and malaise. The study found associations with ITGAM, PXK, KIAA1542, LYN, and BLK genes, which may lead to new therapies for the disease.
Research reveals hereditary hemochromatosis is more prevalent among men with the genetic marker C282Y, posing a significant risk for liver fibrosis and joint disease. The study emphasizes the need for careful clinical assessment to detect the condition in high-risk individuals.
Researchers have discovered a new mechanism by which abnormal protein in Huntington's disease causes neurodegeneration. Suppressing abnormally high neurotransmission and calcium channel activity may delay onset and progression of the disease.
A genetic mutation known to affect Ashkenazi Jewish breast cancer patients is also prevalent among Hispanic and young African-American women. Research found that 3.5% of Hispanic women had the BRCA1 mutation, while 16.7% of African-American women under 35 did so.
A study at Fox Chase Cancer Center found that men with female relatives testing positive for a BRCA mutation have an increased risk of developing prostate and breast cancer, yet many are unaware of this risk. The study highlights the need for better communication between healthcare providers and male family members about genetic test r...
Scientists at the Weizmann Institute have proposed a mechanism that explains the precision of trinucleotide repeat diseases like Huntington's. They suggest that the genes carrying the disease code accumulate more DNA repeats over time until a critical threshold is crossed.
Scientists have created a human embryonic stem cell line from an embryo with the fragile X mutation, revealing early events associated with the disease. The study suggests that preventing epigenetic modifications may help rescue abnormal cells, paving the way for new therapeutic strategies.
The American College of Physicians (ACP) has issued comprehensive guidelines for treating low back pain, recommending that clinicians avoid routine imaging and diagnostic tests. The ACP also found that the newer drug telbivudine is more effective than adefovir in suppressing hepatitis B virus levels.
Scientists engineered mice with a single mutation in the neuroligin-3 gene to study autism spectrum disorders (ASDs), finding improved spatial learning and memory while impairing social interactions. The mouse model may help understand how specific defects in neural development lead to ASDs.
The Simons Simplex Collection will be a core resource for researching sporadic genetic mutations in autism. Researchers will analyze DNA samples from 2,000 families with one autistic child to understand the underlying causes of autism.
Researchers at University of Michigan dispute the immortal strand hypothesis, which suggests adult stem cells minimize genetic mutations through a non-random DNA segregation process. They found no evidence supporting this idea in blood-forming mouse stem cells.