Articles tagged with Mutation
Researchers describe a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The disorder presents with early onset respiratory distress, lung abnormalities, and developmental delay but no epilepsy.
A genomic study reveals koalas experienced a severe population decline around 100,000 years ago due to climate change and habitat loss. This finding overturns earlier studies that suggest human arrival led to the decline.
Researchers from The University of Osaka identified a unique genetic pattern in carcinoma cuniculatum, a rare type of oral cancer with slower growth and lower risk of spread. This discovery may lead to improved diagnosis and targeted treatment for this challenging-to-diagnose condition.
A new preclinical study suggests that targeting tumor-specific inflammatory processes could enhance the efficacy of some anticancer therapies and prevent drug resistance. The researchers found that tumors treated with KRAS inhibitors often developed inflammation-related gene expression changes, which contributed to drug resistance.
Researchers developed a viable homozygous CHD8 mouse model, showing that stronger mutations can dramatically alter male–female autism patterns. The study revealed pronounced autism-related abnormalities in both sexes with severe mutations.
A new technology allows for the efficient insertion of large DNA segments, enabling a 'chapter rewrite' in the genome. This method avoids double-strand breaks and can correct hundreds of mutations simultaneously.
Scientists discover that tRNA gene mutations can alter the reading of the genetic code, leading to increased protein synthesis errors. This phenomenon is linked to aging and cellular decline, with potential implications for neurodegenerative diseases like Alzheimer's.
A custom-built AI system helped uncover how bacterial communities organize themselves, showing that early moments of a biological transition carry more information than previously considered. The findings bring new insight into the relationship between genotype and phenotype in Myxococcus xanthus.
Researchers have uncovered a gene responsible for the unusual patterning in Snowflake clownfish, which has provided key clues toward solving the mystery of biological organization. The study suggests that a universal framework for studying pattern formation across species exists.
Researchers observed nonrandom patterns of spike D614 reversions in SARS-CoV-2 delta and omicron BA.2 variants, suggesting a non-spontaneous mechanism. These reversions occurred disproportionately after peak transmission periods and showed geographic clustering.
A study by IBEC reveals how thousands of amylin mutations influence its tendency to form toxic aggregates in the pancreas, linked to type 2 diabetes. The researchers created a mutational map using deep mutational scanning, identifying variations that promote or hinder amyloid formation.
Researchers at The University of Osaka discovered that the cyanobacterial circadian clock is controlled by factors intrinsic to one protein, which remains stable under different conditions. This finding offers significant insight into how living organisms measure time.
A genetic mutation found in high-altitude animals may help regenerate myelin sheath and repair nerve damage in conditions like MS and cerebral paralysis. The mutation increases production of a metabolite that promotes myelin production and maturation.
The study found that 2024-2025 COVID-19 vaccines offer protection against COVID-19 hospitalization and severe in-hospital outcomes. Monitoring vaccine effectiveness remains crucial to guide vaccine composition and recommendations.
A Goethe University-led study reveals how mutations in the SPRTN enzyme cause chronic inflammation and premature ageing. The research team found that damaged DNA in the cell nucleus leaks into the cytoplasm, activating defense mechanisms and leading to chronic inflammation.
A study led by Aaron Hobbs and Rachel Burge reveals the distinct cell signaling and tumor microenvironment behind a slower-growing pancreatic tumor mutation. G12R KRAS mutations lead to better patient outcomes, including earlier diagnoses and longer survival times.
The German Research Foundation (DFG) has funded a three-year project to investigate epigenetic memory in nerve cells. The goal is to understand how gene expressions are preserved via epigenetic regulation, which plays a key role in learning ability, memory function, and healthy brain development.
Researchers have identified regions of the human genome particularly prone to mutations, which can be inherited by future generations. The mutated stretches of DNA are located at the start point of genes and are more susceptible to errors during cell division.
Researchers have discovered a new class of BRCA1 mutations that can be targeted by HSP90 inhibitors, potentially improving treatment outcomes for patients with breast cancer. The study found that these mutations are more resistant to PARP inhibitor treatment but can be overcome with low-dose HSP90 inhibition.
Researchers at UC San Diego School of Medicine developed an AI-powered approach to decode macrophage gene expression patterns. They identified a 53-gene signature that separates reactive from tissue-healing macrophages, resolving a longstanding debate in Crohn's disease.
A recent study led by Harvard Medical School researchers found that genetic changes creating identical sperm cells are more widespread than thought and linked to single-gene diseases. The team identified genes underlying these mutations, which can be passed onto offspring, leading to devastating disorders.
Researchers at Charité – Universitätsmedizin Berlin have developed a method to predict the effects of mutations in yeast by analyzing the proteome. The study reveals that small genetic mutations can have significant impacts on cell growth, especially under altered conditions.
Researchers have discovered that certain harmful DNA variations become more common in sperm as men age, raising genetic disease risk for offspring. The study found that around 2-5% of sperm from middle-aged and older men carried disease-causing mutations, with a significant increase in the risk of passing on these mutations to children.
Researchers found that smoking and biological sex shape how normal cells evolve in healthy bladder tissue, with certain mutations gaining an advantage to expand into clones. This study offers new insights into cancer risk and prevention by providing a way to understand tissue evolution and identify early warning signs.
Scientists have developed a DNA nanospring to measure the force of protein motors like KIF1A, which can lead to improved diagnosis and treatment of diseases. The technique uses fluorescent imaging to detect the stretching of the DNA nanospring, allowing researchers to accurately measure the motor's power.
Researchers at CNIO have created a 'human repairome', a catalogue of 20,000 DNA 'scars' that reveal how genes affect DNA repair. This information can help determine the best treatment for each cancer type and overcome resistance to therapy.
A study of 9/11 first responders found mutations in blood-forming cells may explain increased leukemia risk, suggesting a targeted intervention against environmental toxins. The research also identified IL1RAP as a protein culprit, which could be used to prevent or treat blood cancers in individuals exposed to similar disasters.
The CityUHK team is developing two core therapeutic medicines using state-of-the-art DNA surgery technology to treat liver and cardiovascular genetic diseases. Their approach offers a durable and long-lasting solution, eliminating the need for repeated medications.
Researchers have discovered a single drug that can stabilize nearly all mutated versions of a human protein, offering a potential solution for rare diseases. The oral medicine tolvaptan restored receptor levels to near-normal in 87% of destabilized mutations.
Scientists at UCSF successfully used CRISPRa to increase SCN2A levels in mice with the genetic disorder, resulting in reduced seizures and improved brain function. The therapy offers hope for treating neurodevelopmental issues related to SCN2A haploinsufficiency.
A new study finds that a specific mutation in the human APOL1 gene arose more frequently where it was needed to prevent disease, supporting a non-random pattern. This challenges the long-held notion of evolution driven by random mutations and introduces a new theory on how mutations arise.
Two new studies from Karolinska Institutet investigate how somatic mutations in muscles and blood vessels affect ageing. The results show that such mutations can reduce muscle strength and accelerate blood vessel ageing.
A University of Missouri-led study has uncovered how poplar trees can naturally adjust a key part of their wood chemistry based on changes in their environment, supporting improved bioenergy production. The discovery sheds light on the role of lignin and its potential to create better biofuels and sustainable products.
Researchers found that individuals with a mutation in the TTN gene are 21 times more likely to develop dilated cardiomyopathy than those without. Lifestyle factors such as being overweight or having high alcohol consumption contribute to an earlier diagnosis, and men with the mutation are more likely to develop DCM at a younger age.
Researchers from University of Zurich and Basel decode historical specimen to understand how 1918-1920 influenza pandemic evolved in Europe. The Swiss genome reveals three key adaptations that made the virus more resistant to human immunity and more infectious.
Researchers identified a novel homozygous nonsense mutation in DLGAP5 responsible for human female infertility. The mutation led to abnormal oocyte maturation and impaired embryo development, with no cleavage embryos developing into blastocysts.
Researchers at the University of Sydney developed a biological 'artificial intelligence' system called PROTEUS, which can accelerate cycles of evolution and natural selection to create molecules with new functions in weeks. The system has potential applications in finding new medicines and improving gene editing technology like CRISPR.
A new study reveals that air pollution contributes to the development of lung cancer in people with no or hardly any history of smoking. The study found a strong association between air pollution and genetic mutations in lung tumors, particularly driver mutations that promote cancer development.
Researchers found that combining selinexor with Irinotecan shrunk tumors in preclinical models of colorectal cancer, suggesting a new potential treatment. The study also identified XPO1 mutations linked to rare cancers like endometrial cancer and found that these mutations make cells resistant to chemotherapy.
Researchers identified a gene mutation that disrupts iron absorption in patients with Crohn's disease, leading to persistent anemia. The study sheds light on how genetic risk factors for IBD can compound patient symptoms by interfering with nutrient absorption.
The foundation recognizes five early-career scientists who apply computational methods to cancer research, with a focus on developing new protein designs and understanding chromatin modifications. Their work aims to improve treatment strategies and precision oncology for various cancers.
Researchers found that accumulated mitochondrial DNA mutations do not impair respiratory function in mice, contradicting the 'mitochondrial theory of aging'. This study suggests a reevaluation of the relationship between mtDNA mutations and premature aging symptoms.
Researchers discovered that certain immune cells in the gut of refractory coeliac disease patients carry genetic mutations, driving ongoing intestinal inflammation and symptoms. The study's findings suggest a new way to diagnose and potentially treat the most severe form of coeliac disease.
A recent study found that a protein called URI degrades p53, leading to uncontrolled cell proliferation and tumour formation. Researchers have identified URI as a crucial regulator of p53 levels, which may be associated with environmental factors such as poor diet.
A new machine learning model accurately predicts the fitness of AAV capsids based on their amino acid sequence, enabling more efficient and cost-effective gene therapies. The model's robustness and generalizability have been demonstrated through tests on independent datasets, offering a promising tool for capsid engineering.
Aging-associated mutations in the Dnmt3a gene boost mitochondria power in blood stem cells, leading to clonal hematopoiesis. New mitochondrial-targeting drugs show promise in treating age-related illnesses by selectively weakening mutated cells without impacting normal ones.
Researchers from Chiba University identified a previously unreported gene, LIRI1, which plays a crucial role in regulating the balance between starch and lipid storage in plant leaves. The study suggests that LIRI1 promotes carbon allocation by activating starch production and inhibiting starch degradation.
A clinical study confirms that early treatment with fosdenopterin/rcPMP significantly reduces the risk of early death and promotes healthy brain development in infants with MoCD type A. The therapy restores the missing molybdenum cofactor, leading to improved developmental milestones.
A new study has revealed that Beagle dogs carrying mutations in the Shank3 gene exhibit face processing abnormalities, similar to those observed in human ASD patients. The research provides direct experimental evidence that mutations in Shank3 lead to ASD-like deficits in face processing, contributing to social impairments.
Researchers develop AI model to predict novel mutations in protein sequences, combining grammatical and semantic changes. The method uses all available information about the sequence and mutations to create a more accurate prediction model.
Scientists found that piRNA rapidly catches up with changes in jumping genes, improving efficiency through a competition between sites. This unique property of piRNA has implications for medical research and potential diagnostic or therapeutic strategies against unwanted genetic mutations.
Researchers found that detectable mutant KRAS circulating tumor DNA (ctDNA) indicates a higher risk of cancer spread and worse survival rates for patients with pancreatic ductal adenocarcinoma. The study suggests that ctDNA assays should be performed prior to treatment to have the highest yield.
Myotonic Dystrophy Type 1 affects multiple organs, including the heart, and is caused by a mutation in the DMPK gene that leads to disrupted RNA processing. Researchers at Baylor College of Medicine tested MBNL overexpression in a mouse model, achieving partial rescue of cardiac phenotypes.
Scientists discovered a protective variant of the HAQ-STING gene that prevents COPA Syndrome. This finding opens the door to a new gene therapy for the condition, which currently has no cure.
Researchers have identified a new variant, clade 1b, of the mpox virus that has become more infectious and is spreading rapidly across borders. The study found that this variant primarily spreads through heterosexual contact in densely populated areas, with an estimated fatality rate of 3.4%.
Researchers discovered immune cells that can recognise influenza (flu) viruses even as they mutate, providing a potential solution to the annual updates of flu vaccines. The study found that certain T cells, which play a critical role in fighting infections, can detect multiple flu strains, even those that have evolved over a century.
Researchers found a genetic change, pR552*, that could give the RB1 gene a new function leading to cancer growth. This challenges the common belief that both copies of the RB1 gene must be damaged for cancer to develop.
Researchers developed a powerful tool to detect SARS-CoV-2 variants with high transmission potential, pinpointing exact mutations driving spread. The model focuses on spike protein and other parts of the virus, enhancing ability to bind human cells and evade immune systems.
A new study reveals a link between genetic mutations and epigenetic modifications, challenging the current anti-aging strategies based on epigenetic clock theory. The research found that mutations can cause a cascade of epigenetic changes across the genome, making it harder to reverse aging than previously thought.