Mutation News and Research

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New Insights Into Ageing Revealed

The way in which blood stem cells evolve over a lifespan differs greatly between humans and mice, new research reveals. The findings provide a new understanding of the critical factors that influence tissue ageing.

5 Mar 2025

Understanding Cell States Could Lead to More Personalized Leukemia Therapies

Myeloid leukaemias are among the most aggressive blood cancers and have low survival rates. Today, leukaemia patients undergo genetic analysis to identify mutations and select the most appropriate treatment.

26 Feb 2025

New ctDNA Model Enhances Metastatic Cancer Surveillance

In metastatic cancer surveillance, monitoring the actual concentrations of circulating tumor DNA (ctDNA) may be critical. Researchers showed that absolute ctDNA concentration thresholds can be defined to rule out or predict impending cancer progression.

25 Feb 2025

LUC7 Proteins Play Key Role in RNA Splicing Control

RNA splicing is a cellular process that is critical for gene expression. After genes are copied from DNA into messenger RNA, portions of the RNA that don't code for proteins, called introns, are cut out and the coding portions are spliced back together.

21 Feb 2025

Targeting NMDA Receptor Subunit Shows Promise for Fragile X Syndrome

Building on more than two decades of research, a study by MIT neuroscientists at The Picower Institute for Learning and Memory reports a new way to treat pathology and symptoms of fragile X syndrome, the most common genetically-caused autism spectrum disorder.

21 Feb 2025

New Discoveries Challenge Textbook Knowledge of Mitochondrial Respiration

In an article published in the journal Trends in Biochemical Sciences, Alicia Kowaltowski, full professor at the University of São Paulo's Institute of Chemistry (IQ-USP) in Brazil, advocates the "rewriting" of textbooks on the location of the electron transport chain in mitochondria and the role of sodium in mitochondrial respiration.

20 Feb 2025

Mismatch Repair Genes Found to be Key Drivers of Huntington's Disease

A new UCLA Health study has discovered in mouse models that genes associated with repairing mismatched DNA are critical in eliciting damages to neurons that are most vulnerable in Huntington's disease and triggering downstream pathologies and motor impairment, shedding light on disease mechanisms and potential new ways to develop therapies.

12 Feb 2025

Mutant Vimentin Promotes Aggressive Breast Cancer Growth

Vimentin is a type III intermediate filament (IF) protein typically expressed in cells that differentiate into connective tissue, blood vessels, and lymphatic tissue (mesenchymal cells).

12 Feb 2025

Study Uncovers Immune Cell Interaction Driving Aggressive Brain Tumor Growth

A type of aggressive, treatment-resistant brain tumor has a distinct population of immune cells that support its growth, according to new research led by investigators at the Johns Hopkins Kimmel Cancer Center Bloomberg~Kimmel Institute for Cancer Immunotherapy and the Johns Hopkins University School of Medicine.

11 Feb 2025

Revolutionary Model Identifies Tumor-Fighting Immune Cells in Lung Cancer

Researchers at the Johns Hopkins Kimmel Cancer Center and Bloomberg~Kimmel Institute for Cancer Immunotherapy have developed a computer model to help scientists identify tumor-fighting immune cells in patients with lung cancer treated with immune checkpoint inhibitors.

4 Feb 2025

Understanding How α2δ Protein Mutations Influence Brain Development in Autism

A recent study has uncovered how specific genetic mutations in α2δ-1 and α2δ-3 proteins linked to autism spectrum disorders (ASD) alter neuronal functionality. These mutations significantly reduce the proteins’ membrane expression and synaptic targeting but do not impair calcium channel activity or trans-synaptic signalling.

3 Feb 2025

New Method Helps Detect Mutations Causing Immune Escape in Viruses

Viruses are masters at disguise. When they are pushed too far by our immune system, they send new virus variants into play that are no longer recognized by immune cells.

31 Jan 2025

Genetic Mutations May Be Behind Epigenetic Clock of Aging

Researchers at University of California San Diego School of Medicine have published results that shed new light on an old question: what causes aging at the molecular level? Their findings, published in Nature Aging, describe a never-before-seen link between the two most accepted explanations: random genetic mutations and predictable epigenetic modifications.

22 Jan 2025

Study Unveils Surprising Cause of Brain Cell Death in Huntington's Disease

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells.

17 Jan 2025

Inflammasome Helps Block Malignancy in Blood Stem Cells

A group of immune proteins called the inflammasome can help prevent blood stem cells from becoming malignant by removing certain receptors from their surfaces and blocking cancer gene activity, according to a preclinical study by Weill Cornell Medicine investigators.

17 Jan 2025

Unrepaired DNA Damage Can Persist for Years and Lead to Cancer Mutations

While most known types of DNA damage are fixed by our cells’ in-house repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that the damage has multiple chances to generate harmful mutations, which can lead to cancer.

15 Jan 2025