Articles tagged with Mutation
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Scientists have discovered an additional source of genetic mutations that cause rare conditions like Huntington's disease. Expanded CAG repeat RNA can form aggregates that reduce global protein synthesis and lead to neurotoxicity.
A Northwestern University study reveals how the NEK1 gene mutation affects neurons, causing instability in microtubules and disrupting nuclear import. This discovery suggests anti-cancer drugs could be used to treat ALS by stabilizing microtubules.
Researchers Yuesheng Zhang and his team aim to understand how mutated p53 proteins regain their cancer-fighting abilities through the manipulation of interactions with peptidase D (PEPD). The goal is to develop novel treatment strategies targeting PEPD to restore antitumor properties in various forms of cancer.
Researchers discovered that female gametes in flowering plants can still attract pollen tubes and produce seeds even without synergid cells. The central cell produces new types of pollen tube attractants, SALs, which are essential for fertilization recovery.
Researchers at Tokyo University of Science successfully synthesized tanzawaic acid B in large amounts, paving the way for new antibiotic development. The breakthrough method could lead to creation of various compounds for pharmaceuticals, including new antibiotic candidates.
A recent study led by Dr. Itamar Harel reveals that manipulating AMP biosynthesis can extend lifespan and promote metabolic health in vertebrates. The research used the turquoise killifish as a model organism and found remarkable effects on energy metabolism, including a fasting-like profile and enhanced resistance to high-fat diets.
A new study by Rice University bioscientists reveals how plant cells collaborate to fuel growth, shedding light on corresponding mechanisms in human cells. The findings focus on the role of enzyme MIEL1 and its human counterpart PIRH2 in breaking down protein coatings on lipid droplets.
Research by Professor Björn Schumacher investigates the role of male germ cells in genetic mutations. The study suggests that paternal DNA damage can lead to faulty repairs in the genome, resulting in structural variants.
A study by John Innes Centre researchers has revealed how plants avoid cracking under stress by using a growth hormone called brassinosteroid to loosen the straitjacket effect on their skin. The findings, published in Science, have implications for our understanding of plant development and potentially improve crop yields.
Scientists at RIKEN Center for Brain Science find that somatic mutations in six genes lead to intracranial aneurysms, which can be blocked with a drug. The study establishes the first non-surgical animal model of intracranial aneurysm and provides a potential new treatment option.
A University of Ottawa team has discovered a vital role for the VGLUT3 transporter protein in modulating the development of Huntington's disease. The study shows that blocking glutamate release through this protein can lead to an amelioration of the disease progression, offering new hope for potential treatment approaches.
Researchers used mouse genetics to determine if brain or spinal cord causes dystonia, finding that spinal cord is responsible. Spinal cord dysfunction leads to signs of dystonia similar to those seen in humans, providing a new target for treatment.
A new targeted therapy drug vorasidenib has been shown to extend treatment time without worsening glioma in people with IDH1 and IDH2 mutations. The study suggests a possible new treatment option for slow-growing but deadly brain tumors, delaying chemotherapy and radiation.
Researchers found that a mutated PDE3A gene prevents kidney damage despite severe hypertension. The study suggests that this mutation could be used therapeutically to prevent chronic kidney disease.
Researchers found that L1 jumping genes can be widely activated in normal cells, leading to the accumulation of genomic mutations over time. The study highlights the critical role of epigenetic changes in regulating L1 jumping gene activity.
Researchers at UCL have uncovered the molecular basis of a woman's rare genetic mutation that allows her to live pain-free and heal rapidly. The study found that the mutation in the FAAH-OUT gene turns down FAAH gene expression, affecting other molecular pathways linked to wound healing and mood.
A novel method combines biosensors and microfluidics to quickly identify mutant bacterial strains that produce industrially useful proteins. The approach enables the extraction of high-performing strains in a fraction of the time required by traditional methods.
Researchers have cloned the wheat rust resistance genes Lr9 and Sr43, revealing that they encode unusual kinase fusion proteins. This breakthrough enables new options for addressing disease resistance in bread wheat and could lead to heat-resistant versions of the Sr43 gene to adapt to climate change.
Researchers found that a mutation in RPL3L, expressed only in heart and skeletal muscle, leads to impaired cardiac contractility by causing ribosomal collisions and protein folding abnormalities. The study aims to develop new treatments for cardiomyopathy and atrial fibrillation.
Researchers discovered that MSH2-MSH3 plays a crucial role in selecting the right DNA repair process by interacting with other proteins during DSB repair. This interaction facilitates error-free homologous recombination and blocks error-prone polymerase theta-mediated end-joining.
Researchers at Indiana University School of Medicine discovered a strong association between obesity and clonal hematopoiesis of indeterminate potential (CHIP), a blood condition that increases the risk of blood cancer. The study found that obesity causes inflammation, which can lead to rapid growth of mutated blood cells.
A study by Tufts University researchers reveals how DNA repair can fail near expanded repeats, leading to mutations and disease. The team found that certain proteins play a crucial role in stabilizing the DNA during repair.
Researchers identify OmpU protein variants associated with antimicrobial resistance in Vibrio cholerae bacteria. Understanding the evolutionary origins of AMR can inform the development of effective therapeutics against resistant infections.
Researchers developed a gene signature called CisSig to predict cancer patients' response to cisplatin. The approach aims to overcome the obstacle of interpreting gene signatures in the human body and has been validated in muscle-invasive bladder cancer patients.
Researchers from NUS Medicine discovered that specific CPS structures and sugar combinations help Streptococcus pneumoniae colonize the human respiratory tract. The study sheds light on the importance of CPS structure in bacterial survival, which will inform future vaccine development.
Researchers assembled the largest atlas of post-zygotic genome mutations in healthy human tissue, providing insight into genetic underpinnings of disease. The study found that most detectable mutations occurred later in life, but some arose systematically and predictably as people age.
Researchers have created a new tool, EN-TEx, to analyze genetic mutations and predict disease risk. The catalog of allele-specific variants provides rich data for accurate personal genomics, enabling scientists to study the effects of genetic mutations in tissues that are difficult to obtain without surgery.
Researchers developed an AI-based diagnostic screening system called DeepGlioma to analyze tumor specimens and detect genetic mutations rapidly. The system identified molecular subgroups with high accuracy and has the potential to improve access and speed of diagnosis for patients with deadly brain tumors.
Scientists from USC Stem Cell laboratory discovered a mechanism linking leukemic mutations to varying disease potentials, identifying RNA splicing regulator Rbm25 as a critical factor. The study found that over-contributing clones of blood stem cells produce excessive myeloid cells, leading to potential leukemia development.
Researchers at St. Jude Children's Research Hospital and Rockefeller University have gained a better understanding of the cystic fibrosis transmembrane conductance regulator (CFTR). The new findings reveal how CFTR functions mechanistically and how disease mutations affect its function, paving the way for more effective therapies.
Researchers found that a plakophilin-2 mutation leads to increased desmosomal protein degradation in ACM hearts, causing structural and functional changes. Studying human heart samples and mice models confirmed the role of protein degradation in ACM development.
Researchers studied how tumors adapt to Sotorasib and found that gene amplification and transcriptional programs lead to resistance. This knowledge can help develop targeted treatments for patients with KRAS mutations, potentially increasing survival rates.
Researchers have successfully restored vision in mice with retinitis pigmentosa using a new CRISPR-based genome editing technique. The PE SpRY system corrected genetic mutations and restored normal electrical responses to light, preserving vision into old age. This breakthrough offers potential for treating inherited blindness.
Experts advocate for genetic testing to identify MS patients at high risk of developing progressive multifocal leukoencephalopathy (PML), a devastating side effect from medications. The availability of such testing could allow physicians to use alternative therapies, reducing the risk of PML.
Scientists studied F1-ATPase function in bacteria to clarify the angle of rotation during ATP hydrolysis. The study revealed three sets of short and long dwells associated with different intervals per revolution, resolving a long-term debate over the ATP-cleavage shaft angle.
A new study led by OHSU researchers reveals that gene editing technology in human embryos can lead to unintended changes in the genome and may not accurately reflect gene edits. The study highlights the need for caution when using genetically edited embryos to establish pregnancies.
Researchers identified a new mutation in the desmoplakin gene that leads to cardiac disease arrhythmogenic cardiomyopathy (ACM). The mutation affects heart muscle cell connections and ion channel function, highlighting the importance of desmosomes in maintaining healthy heart function.
Researchers at Rockefeller University have found queen-like mutants among social parasite ants, which can infiltrate and take over host colonies. These unique ants exhibit intermediate traits between worker and queen behavior, allowing them to thrive in the colony while avoiding dangers associated with leaving their nest.
Researchers developed a microfluidic model of vascular malformation caused by PIK3CA mutation, allowing them to study disease mechanisms and test treatment efficacy. The model successfully replicated the disease's manifestations and responded to alpelisib, a newly approved PIK3CA inhibitor.
Scientists at Münster University identified specific modifications to the influenza A virus polymerase that are triggered by host cell proteins, such as ubiquitin. These stable modifications may lead to the development of medicines resistant to viral mutations.
A new study found that women with BRCA1 or BRCA2 mutations have a cumulative risk of 49% developing any type of cancer after age 50. Risk-reducing surgeries like mastectomies and BSOs can lower this risk, but many women opt out despite elevated risk. Genetic testing is crucial for accurate risk assessment and personalized care.
A study found that BRCA1 mutations increase the risk of malignant mesothelioma caused by asbestos exposure. People with this genetic defect are more susceptible to tumor growth due to impaired ferroptosis defense mechanisms.
Researchers developed an 'AutoPLP' technique to detect new variants of zoonotic pathogens. The tool uses computer program designs customized probes with specific sequences, yielding higher accuracy and efficiency in molecular diagnostics. This breakthrough could help rapidly combat evolving pathogen variants.
Researchers at CU Cancer Center have discovered a way to activate the p53 tumor suppressor gene, which can kill cancer cells. By inhibiting two repressors of p53, the Integrated Stress Response is activated, leading to cancer cell death in multiple cancer types.
Researchers investigated the effects of everolimus on the STAT3/HIF-1α/VEGF pathway in TP53 mutant cell lines and xenograft models. Everolimus treatment significantly inhibited cell growth and reduced tumor angiogenesis and lymphangiogenesis.
Researchers found associations between cancer treatments and accumulated mutations in blood cells, a sign of accelerated aging called clonal hematopoiesis. This accumulation increases the risk of blood cancer and death in long-term childhood cancer survivors.
A new study found that E. coli K-12 has accumulated numerous genetic changes compared to its original isolated bacteria, making it less suitable as a model organism. This discovery highlights the rapid evolution of bacterial genomes and challenges the long-standing use of a single strain in research.
A study by UC San Francisco and Stanford Medicine found that removing the oxytocin receptor does not interfere with monogamy or giving birth. Prairie voles bred without receptors for oxytocin showed similar mating, attachment, and parenting behaviors as regular voles.
Researchers found that measles virus mutations in its fusion protein allow it to infect nerve cells, leading to subacute sclerosing panencephalitis. The team's discovery sheds light on the evolutionary mechanisms of viruses like coronaviruses and herpesviruses.
Researchers at St. Jude Children's Research Hospital used a next-generation protein degradation technology to study CTCF, revealing its functional insights into transcription regulation. The AID2 system overcame limitations of previous approaches, identifying specific zinc finger domains responsible for CTCF-dependent transcription.
A Venus flytrap mutant with a genetic defect has lost its ability to count prey touch numbers. Researchers analyzed gene expression patterns and calcium signaling pathways to understand the cause of the numerical disability.
Researchers have discovered an anti-ageing gene that can rewind the heart's biological age by 10 years, offering a potential target for patients with heart failure. The study found that administering the healthy mutant gene to elderly patients with severe heart problems improved their cardiac function and rejuvenated their immune system.
A new study reveals that high-affinity B cells trigger a change in the criteria for admission to germinal centers, allowing low-affinity B cells to join, increasing the diversity of the immune response. This process is crucial for fighting off viruses like SARS-CoV-2 but may hinder efforts against HIV.
A study of 184 grade I and II meningiomas found associations between specific tumor mutations and increased or decreased recurrence rates. Mutations in ATM and CREBBP were linked to accelerated recurrence, while POLE mutations showed protective effects, highlighting potential targets for intervention.
Researchers have discovered that ancient crocodilian hemoglobin required 21 interconnected mutations to develop its hyper-efficient oxygen-binding properties. This complexity, not found in other vertebrates, enabled crocodilians to exploit their onboard oxygen stores for extended periods underwater.
Researchers discovered host proteins APOBEC3 can aid HIV's latency, a major hurdle to cure research. The finding raises questions about the role of these proteins and potential ways to block their activity to inhibit viral persistence.
Researchers are working to understand the events contributing to pancreatic cancer development by studying gene abnormalities and their effects on the disease. Dr. Krushna Patra's lab is focused on understanding how genetic mutations like GNAS contribute to pancreatic cancer growth.
Researchers found a new role for enzymes regulating genome function, which is linked to diseases such as brain tumors, blood cancers, and Kleefstra syndrome. The discovery could help understand these diseases and develop new treatments.
Researchers found genetic mutations to OAS and RNase L proteins increase inflammatory response in immune cells, leading to MIS-C. This understanding may provide clues to chronic inflammation diseases like Kawasaki disease.
Langerhans' Cell Histiocytosis (LCH) is a serious disease affecting children that can be fatal in severe cases. Researchers have identified the origin of LCH cells, which are derived from both dendritic and monocyte cells.