Articles tagged with Mutation
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Researchers warn of the growing prevalence of ineffective and potentially dangerous fad treatments for autism. Despite limited scientific evidence, parents are often willing to try various therapies in hopes of finding relief for their child.
Researchers recreated a 450-million-year-old protein using X-ray crystallography and mapped its structure. They found that only seven mutations were needed to evolve the ancient receptor into its modern form, with some 'permissive' changes paving the way for more significant transformations.
Scientists have linked a genetic disorder to mutations in the TREX1 gene, which may also be relevant to common health problems like diabetes and vascular dementia. The discovery could accelerate efforts to understand and treat retinal vasculopathy with cerebral leukodystrophy, a rare condition that causes vision loss and mini-strokes.
Research by Dr. Anthony Argentaro has advanced understanding of ATRX mutations that cause blood disorders and genital abnormalities in boys, finding excess or deficiency leads to developmental issues.
A novel signaling pathway has been identified as being altered by genetic mutations in Parkinson's disease, affecting cellular function and potentially leading to new therapeutic targets. The research found that mitochondrial protein PINK1 plays a crucial role in protecting cells from oxidative stress and promoting cell survival.
A study of 396 children who suffered a first cerebral venous thrombosis found that repeated venous thrombosis occurred in 22 cases, with 13 being cerebral, mostly in children over 2 years old and those without anti-coagulant treatment
Researchers found that blood-forming stem cells in mice accumulate DNA damage with age, leading to reduced ability to produce new blood and immune system cells. This finding may explain the origin of blood cancer and immune dysfunctions that occur as people age.
Researchers found a correlation between horn growth and genetic diversity in alpine ibex, with greater diversity associated with longer horn lengths. The study suggests that genetic quality becomes more apparent as the animal ages, supporting the mutation accumulation theory of ageing.
Researchers have identified novel genetic mutations linked to hereditary diffuse gastric cancer, which are due to both independent mutational events and common ancestry. The study found that between 30% and 40% of families with a positive family history of gastric cancer will carry germline mutations in the CDH1 gene.
University of Iowa researchers have identified a genetic mutation in sperm cells that contributed to autism in two daughters. The study provides insight into how this mutation affects the glutamate synapse and may lead to diagnostic and therapeutic tools.
A small percentage of CF patients with a rare genetic stop mutation responded positively to gentamicin treatment, suggesting potential targeted treatments for the disease. Gentamicin reversed stop codons and restored the CFTR protein, improving respiration in affected patients.
Researchers design a custom mask to camouflage abnormal gene splicing, restoring the correct genetic blueprint. The approach shows promise in treating cancer and other diseases caused by genetic mutations, with future testing planned in mouse models.
A study found that tiny spontaneous gene mutations are 10 times more prevalent in sporadic cases of autism spectrum disorders than in healthy control subjects. The researchers propose that these anomalies are primary causes of the disorder in most cases when present, and may contribute to disease equally across the sexes.
Researchers identified a protein called MARCO that helps immune cells in the lungs clear oxidants, protecting against lung damage. HDL proteins were also found to have anti-inflammatory properties, suggesting new potential treatments for diseases like asthma and COPD.
A Mayo Clinic study has identified a genetic mutation associated with an inherited predisposition to atrial fibrillation, a type of irregular heartbeat. The discovery may lead to improved identification and treatment of younger patients affected by this condition.
Researchers mapped genetic makeup of type-2 diabetes in unprecedented detail, identifying four loci that correspond to a 70% genetic background risk. The study also reveals a mutation in the zinc transporter SLC30A8, potentially leading to new treatments for insulin deficiency.
Researchers have identified a genetic variation associated with a mild form of schizophrenia, which also confers improved overall survival. The HOPA12pb gene variation affects dopamine-releasing neurons and may hold the key to developing new treatments for schizophrenia and other related illnesses.
Researchers find vitamin D3 plays a role in immune response after skin wounds, inducing expression of antimicrobial peptides. Genetic variation linked to schizophrenia may be associated with increased expression of DARPP-32, influencing brain communication.
Two studies reveal that nearly 10% of SIDS victims have mutations in genes associated with potentially lethal heart rhythms. Researchers identify several genetic contributors and propose strategies for identifying infant carriers before death.
Scientists have identified nine new genetic mutations in cancer cells that make patients more likely to respond to bortezomib, a common multiple myeloma treatment. These findings may help physicians tailor treatment to individual patients, increasing the effectiveness of the drug.
Noonan syndrome is a common childhood genetic disorder caused by mutations in the SOS1 gene. Researchers identified this mutation in approximately 20% of cases, promoting excessive activation of RAS and its downstream target, MAP kinase.
Researchers have demonstrated a central role for zinc in modulating signaling among neurons, shedding light on its presence in free ion pools. The findings show that manipulating synaptic zinc levels can affect neuronal action, highlighting the complexity of potential therapeutic interventions.
Researchers at Vanderbilt University Medical Center have developed a new animal model for pancreatic cancer that exhibits aggressive characteristics similar to human tumors. The genetically-engineered mice can be used to investigate targeted drug therapies and identify potential screening methods for early detection.
A recent study challenges the practice of using Ashkenazi Jewish ethnicity as a proxy for genetic differences in breast cancer research, citing methodological problems and unintended consequences. The study highlights disparities in access to care and potential stigmatization, introducing gaps in testing and treatment for other groups.
A study by Yale researchers has identified a gene variant associated with Crohn's disease, which may offer new therapeutic targets for the condition. The discovery was made in collaboration with international researchers who scanned the genome of over 300,000 individuals to identify genetic components of inflammatory bowel disease.
A recent study has identified a new genetic link to Crohn's disease, revealing that mutations in the IL-23 receptor gene are strongly associated with the condition. The researchers found that one type of mutation provides significant protection, paving the way for more individualized and effective treatments.
A recent study challenges the long-held link between Ashkenazi Jewish ethnicity and increased risk for hereditary breast cancer. The research highlights methodological flaws and unintended consequences, including disparities in access to care and stigmatization. For non-Ashkenazi Jewish women, similar prevalence studies are lacking.
A newly identified gene mutation in the CRTAP gene helps explain a subset of osteogenesis imperfecta (OI) cases, where bones break easily due to abnormal collagen protein modification. The finding may also offer clues to as-yet-undescribed connective tissue diseases and provide insight into collagen formation.
Two studies developed clinical models, PREMM1,2 and MMRpro, to predict the presence of mutations in MLH1 and MSH2 genes associated with Lynch syndrome. The models accurately estimated genetic risk for colorectal cancer, providing a timely tool for identifying and counseling families at risk.
A new prediction model, MMRpro, assesses a person's probability of carrying a particular defect in mismatch repair genes, which predisposes families to colorectal cancer. The study found that MMRpro outperformed existing assessment tools in identifying mutation carriers and predicting colon cancer risk.
Researchers investigated the impact of two copies of the G2019S Parkinson's gene mutation on disease severity. They found no observable differences in symptoms, age of onset, or life expectancy between those with two copies and those with only one copy.
Researchers at Johns Hopkins Medicine have identified four mutations in the Desmoglein-2 gene as a significant contributor to arrhythmogenic right ventricular dysplasia (ARVD), a condition that causes sudden cardiac death in young athletes. The findings should increase the accuracy of tests to identify those at risk for ARVD.
A large NIH-supported study provides the clearest picture yet of the prevalence of BRCA1 and BRCA2 gene mutations in the US population. The researchers found that 2.4% of breast cancer patients had BRCA1 mutations, while African American women were more likely to have BRCA2 mutations.
Research suggests that folate deficiency during pregnancy can cause genetic mutations leading to schizophrenia, challenging the conventional wisdom on psychiatric disorders. The study of two major famines in the 20th century supports a theory of medical genetics where multiple genetic mutations contribute to diseases.
Researchers have identified a genetic defect causing some people to feel full despite eating, providing hope for new anti-obesity treatments. The study pinpointed the melanocortin-4 receptor's role in regulating hunger and found potential therapeutic compounds.
Researchers developed a genetic test for CMT2, a leading cause of the condition, which is characterized by muscle weakness and nerve damage. The new test offers hope for early diagnosis and potential treatment of CMT2, a complex disorder with no effective therapies yet.
Mutations in the progranulin gene cause frontotemporal dementia (FTD), a group of brain disorders affecting personality and speech. The discovery reveals the mechanism that causes the disease and points to potential therapeutic approaches.
A recent genetic study discovered a link between beta-actin mutations and developmental brain disorders, including dystonia. The findings suggest that these mutations may play a wider role in a range of congenital diseases.
Researchers discovered a genetic mutation in Florida beach mice that affects their coat color, revealing a possible explanation for the evolution of similar color patterns in extinct mammoths. The study also sheds light on the complex genetic process underlying coat pattern generation in mammals.
A 10-year study by U-M researchers found that women with BRCA1 or BRCA2 gene mutations who underwent breast-conserving surgery and hormonal treatment had lower rates of breast cancer recurrence. Tamoxifen reduced the risk of same-breast recurrence by 58 percent, while oophorectomy lowered the risk even further.
A study of 886 women with BRCA1 or BRCA2 genetic mutations found that prophylactic surgery reduced ovarian cancer incidence by 89% and breast cancer incidence by 47%. The results differ for BRCA1 and BRCA2 carriers, highlighting the need for tailored risk-reduction strategies.
Researchers at ULg discovered a new kind of mutation that may contribute to the wide range of phenotypic variations observed in various species, including humans. The Patrocles database provides a comprehensive collection of these mutations, which can aid in discovering similar phenomena for other phenotypes and hereditary diseases.
Scientists found that Cx26 mutations may have an evolutionary advantage due to their role in wound healing and defense against bacterial invasion. A drug temporarily knocking out Cx26 protein could improve healing in various epidermal wounds.
The Mayo Clinic team has discovered that an echocardiography-guided genetic test can be more effective in identifying hypertrophic cardiomyopathy (HCM) mutations, particularly when combined with unique anatomical features of the heart. This approach can help physicians provide more accurate counseling to families and unlock new researc...
Researchers pinpointed a single base pair mutation in DNA that causes non-shattering rice varieties, allowing for effective field harvests. This discovery will benefit the world by improving yields and sustainability of food crops, particularly rice, which is staple food for over half of the global population.
The COSMIC database has expanded to include data on 538 genes and 124,367 tumours, highlighting the need for further research to uncover additional breast cancer susceptibility genes. Scientists believe that many somatic mutations are caused by a combination of faulty gene and environmental factors.
Researchers found no association between mammography and increased risk of breast cancer in women with BRCA mutations. The study suggests that screening may be safe for this high-risk group, but prospective studies are needed to confirm the results.
A study found that commercial genetic testing does not detect all cancer-predisposing mutations in BRCA1, BRCA2, CHEK2, TP53, and PTEN among women with breast cancer from high-risk families. The researchers identified previously undetected mutations in 17% of patients, highlighting the need for more accurate genetic testing methods.
Researchers have identified a genetic mutation in the calnexin gene that can lead to degenerative blindness, providing new insights into retinal degeneration. The study's findings may one day enable doctors to deliver tailored treatments to patients with specific calnexin mutations.
A genetic mutation, CCR5delta32, makes individuals more susceptible to West Nile virus infections. Research suggests that this lack of a protein can prevent protective immune cells from reaching the brain, increasing the risk of severe disease.
Researchers propose a three-step process for cancer development, where epigenetic changes occur first, followed by genetic mutations. This new understanding may lead to earlier detection and treatment of cancer, similar to cholesterol-lowering drugs preventing heart disease.
Researchers identified 235 different mutations in 310 patients, with 70% of Romano Ward probands successfully genotyped using standard methods. The new approach aims to facilitate genetic testing for LQTS in a broader group of individuals, including those receiving QT-interval prolonging drugs and family members.
Researchers developed a system to trace lineage on a large scale by analyzing genetic mutations in microsatellites, creating accurate cell lineage trees for living cells. The method uses a computer algorithm to analyze genetic information and assess degrees of relatedness.
A study found that larger DNA bases can lead to increased efficiency in DNA replication, allowing for more genetic mutations. This discovery sheds light on the mechanisms underlying genetic evolution.
Researchers found that individuals carrying CDKN2A mutations have a significantly higher risk of developing melanoma by age 50 (14%), 70 (24%), and 80 (28%). Genetic testing is unlikely to identify many mutation carriers due to the modest impact of these mutations on population incidence.
Researchers at EMBL have discovered two types of EJC complexes that determine how NMD deals with defective RNA molecules. The presence or absence of a protein called UPF2 affects the composition of the EJC, influencing how NMD recognizes and breaks down faulty RNAs.
A study found that the BRCA2 gene mutation significantly increases cancer risk in men, with higher rates of prostate, pancreatic, pharyngeal and bone cancers. The mutation is associated with an increased risk of developing these cancers, particularly among younger men.
Researchers have made significant progress in understanding the genetic mutations that cause familial migraines. By studying how these mutations affect the sodium pump, a crucial cellular mechanism, Dr. Rhoda Blostein and her team identified key changes that disrupt its operation, leading to migraine development.
Researchers at Ludwig Maximillians University report that AML1-ETO cooperates with FLT3 to induce rapid and aggressive acute leukemia in mice. This study supports a pathogenetic model of acute leukemia, which requires activating mutations in signal transduction pathways and transcription factors for leukemogenesis.
A new study links aging to genetic mutations in mitochondria, accelerating cell death and critical organ failure. Researchers found that accumulated mitochondrial DNA damage triggers cell death, leading to symptoms like hair loss, weight loss and vision impairment.