Mutation
Articles tagged with Mutation
New technology enables ‘rewriting a chapter’ of the genome
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.
Mutations in the "translators" of the human cell alter the reading of the genetic code in cancer and ageing
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.
AI spots hidden behavior patterns in self-organizing bacteria
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.
Mutant clownfish reveals how nature draws boundaries
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.
Observation of nonrandom patterns of spike D614 reversions in SARS-CoV-2 delta and omicron BA. 2
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.
An unprecedented mutation map reveals how amylin mutations influence type 2 diabetes
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.
The truth of timekeeping lies within: key developments in understanding circadian rhythms
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.
High-altitude survival gene may help reverse nerve damage
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.
Estimated effectiveness of 2024-2025 COVID-19 vaccination against severe COVID-19
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 broken DNA repair tool accelerates aging
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.
Hollings researchers reveal why some pancreatic tumors behave differently
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.
DFG funds brain development research at MPZPM with half a million euros
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.
New mutation hotspot discovered in human genome
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.
Study uncovers hidden class of BRCA1 mutations and a potential way to target them
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.
Research alert: Rebalancing the gut: how AI solved a 25-year Crohn’s disease mystery
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.
New insights into harmful mutations in sperm
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.
Tracking the impact of mutations
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.
Smoking and biological sex shape healthy bladder tissue evolution, offering clues to cancer risk
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.
Hidden evolution in sperm raises disease risk for children as men age
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.
DNA nanospring measures cellular motor power
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.
CNIO researchers create the “human repairome”, a catalogue of DNA “scars” that will help define personalized cancer treatments
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.
9/11 study shows how toxic exposures may lead to blood cancers
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.
CityUHK develops novel “DNA surgery” with therapeutic potential for liver and cardiovascular genetic diseases
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.
First evidence of a ‘nearly universal’ pharmacological chaperone for rare disease
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.
Could CRISPR could fix this severe childhood brain disorder?
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.
Groundbreaking study suggests that mutations driving evolution are informed by the genome, not random
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.
How mutations in bodily tissues affect ageing
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.
Poplar tree discovery could help shape the future of energy and biomaterials
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.
New study uncovers how genetics and lifestyle drive the heart disease dilated cardiomyopathy
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.
Swiss genome of the 1918 influenza virus reconstructed
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.
DLGAP5 mutations disrupt normal chromosome segregation and spindle formation of human oocyte meiosis and lead to female infertility
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.
Scientists create biological ‘artificial intelligence’ system
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.
Air pollution may contribute to development of lung cancer in never-smokers, new study finds
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.
Gene hunt leads to potential colorectal cancer treatment, Stanley J. Glaser Award
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.
Genetic link found between iron deficiency and Crohn’s disease
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.
Damon Runyon Cancer Research Foundation awards Quantitative Biology Fellowships to five cutting-edge scientists
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.
Mitochondrial DNA mutation accumulation may not be a determining factor in aging
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.
‘Rogue’ immune cells explain why a gluten-free diet fails in some coeliac patients
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.
Discovery of a molecular mechanism that initiates colon cancer
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.
Machine learning model to predict the fitness of AAV capsids for gene therapy
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.
Forward genetics approach reveals the factor responsible for carbon trade-off in leaves
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.
Supercharged mitochondria spark aging-related blood disorders
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.
Successful therapy confirmed for newborns with the fatal metabolic disorder MoCD type A
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.
Face processing abnormalities identified in autism dog model
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.
AI learns to ‘speak’ genetic ‘dialect’ for future SARS-CoV-2 mutation prediction
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.
Adaptive defenses against malicious jumping genes
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.
Mayo Clinic researchers identify a measurable genetic mutation as a significant predictor of metastasis and survival in pancreatic cancer
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.
Restoring heart function in Myotonic Dystrophy Type 1
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.
1 gene variant is poised to cure a devastating inherited disease
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.
Scientists warn of increased mpox transmission
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%.
From Spanish flu to today: how immune cells keep up with a changing virus
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.
Pathogenic variants in retinoblastoma suggest a potential gain-of-function mutation
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.
New tool can detect fast-spreading SARS-COV-2 variants before they take off
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.
Why our biological clock ticks: Research reconciles major theories of aging
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.
New potential treatment for inherited blinding disease retinitis pigmentosa
Two non-retinoid compounds were identified that improve cell surface expression of rhodopsin in 36 genetic subtypes of retinitis pigmentosa and protect against retinal degeneration in mice with the disease. The treatment showed improved overall retina health and function, prolonging photoreceptor survival.
LJI researchers shed light on devastating blood diseases
Scientists have discovered how a mutated ASXL1 gene disrupts normal blood cell development, leading to diseases such as clonal hematopoiesis and malignant leukemias. The study reveals that mutated ASXL1 causes heterochromatin dysfunction, silencing genes essential for blood cell maturation.
UTHealth Houston study reveals two new genes associated with variants linked to epilepsy, offering new hope for personalized therapies
Researchers at UTHealth Houston have discovered two novel genes, DYRK1A and EGFR, linked to genetic mutations causing epileptic brain lesions. This breakthrough offers a new framework for understanding epilepsy and developing targeted therapies.
Sylvester Cancer Tip Sheet for Dec. 2024
Sylvester Comprehensive Cancer Center offers expert advice on coping with holiday loss and grief. Biological age can predict early colorectal cancer risk, while research advances may lead to a cure for multiple myeloma. Blood cancer experts share insights into new treatments.
ASH 2024: Study shows that genetic mutations accumulate in smokers with myelodysplastic syndromes and worsen outcomes
The study found that smokers with myelodysplastic syndromes (MDS) or precursor conditions had elevated levels of genetic mutations linked to the disease. Heavier smokers accumulated more mutations, and long-term smokers were more likely to show disease progression.