Mutation News and Research

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Calcium-induced release identified as key driver of dangerous muscle disorders

Researchers engineered mice with a mutation (E3896A) in the RyR1 calcium-binding site, eliminating calcium-induced calcium release (CICR) without affecting depolarization-induced calcium release.

25 Sep 2025

Scientists map step-by-step activation of brain receptors

When it comes to brain proteins, small changes can make a dramatic difference. Researchers studying NMDA (N-methyl-D-aspartate) receptors, which are essential for learning, memory and moment-by-moment consciousness, know that even slight changes in their activity level can mean the difference between normal function and serious neurological disorders.

24 Sep 2025

New screening method boosts efficiency and accuracy of CAST genome editing

Natural systems such as CRISPR-associated transposons (CASTs) offer a targetable, one-step way to edit genomes.

23 Sep 2025

A single drug stabilizes nearly all mutations of key kidney protein

A study published today in Nature Structural & Molecular Biology is the first time researchers have shown evidence that a single drug, already licensed for medical use, can stabilize nearly all mutated versions of a human protein, regardless of where the mutation is in the sequence.

23 Sep 2025

Genetic study reveals how Anopheles funestus adapts to malaria control

New research into the genetics of Anopheles funestus (An. funestus), one of the most neglected but prolific malaria-transmitting mosquitoes in Africa, has revealed how this species is evolving in response to malaria control efforts.

18 Sep 2025

POT1 gene mutation linked to pulmonary fibrosis through telomere dysfunction

Idiopathic pulmonary fibrosis is a potentially fatal disease currently without treatment, in which lung tissue develops scarring and becomes stiff, making breathing increasingly difficult over time.

18 Sep 2025

Low dose of aspirin cuts recurrence risk in colorectal cancer with genetic mutation

A Swedish-led research team at Karolinska Institutet and Karolinska University Hospital has shown in a new randomized clinical trial that a low dose of the well-known medicine aspirin halves the risk of recurrence after surgery in patients with colon and rectal cancer with a certain type of genetic alteration in the tumor.

17 Sep 2025

The 15th AACR cancer progress report highlights scientific advances

The American Association for Cancer Research (AACR) released the 15th edition of its annual Cancer Progress Report. A cornerstone of the AACR's educational and advocacy efforts, this comprehensive report provides the latest statistics on cancer incidence, mortality, and survivorship and highlights how federal investments in basic, translational, and clinical cancer research and cancer-related population sciences have led to impressive scientific advances that are improving health and saving lives.

17 Sep 2025

Genetic mutation in some East Asians linked to aldehyde storm and increased liver disease risk

Researchers have identified the mechanism by which a common genetic mutation increases liver disease risk. Their findings suggest that healthy choices, such as increasing antioxidants and limiting exposure to smoke, may reduce the risk of this disease.

13 Sep 2025

New genetic test redefines diagnosis and management of hereditary pancreatitis

A new genetic test developed at Mayo Clinic is redefining how clinicians diagnose and manage hereditary pancreatitis.

11 Sep 2025

CRISPR-based therapeutic approach designed to treat fatal pediatric disease

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare condition associated with stroke, aortic dissection (tearing) and death in childhood.

11 Sep 2025

New method reveals how mitochondrial DNA mutations influence cancer growth

Mitochondria act as energy factories in cells and have their own, separate DNA. Mutations to mitochondrial DNA (mtDNA) have been observed in cancer, but it has been unclear how these changes might affect cancer growth.

10 Sep 2025

Researchers uncover a previously unknown mechanism behind chromosome end protection

Researchers have uncovered a previously unknown mechanism that safeguards the chromosome ends from being mistakenly repaired by the cell.

9 Sep 2025

Zebrafish study reveals how environment influences social behaviors in autism

Researchers from Brain Research Institute, Niigata University, Japan have revealed that environment influences social behaviors in autism.

5 Sep 2025

Scientists uncover human proteins hijacked by SARS-CoV-2 for replication

Despite vaccines and treatments, SARS-CoV-2-the virus that causes COVID-19-continues to pose a global health threat, driven by new variants and its ability to hijack human cells in ways that still aren't fully understood.

5 Sep 2025

Study finds possible molecular connection between air pollution and Lewy body dementia risk

A team of researchers found there is a possible molecular connection between air pollution and an increased risk of developing Lewy body dementia.

4 Sep 2025

How effective is the RSV vaccine for older adults?

A single dose of the RSV vaccine offers 58% protection against hospitalization in older adults, but effectiveness varies in immunocompromised individuals.

3 Sep 2025

Breakthrough discovery reveals treatable form of familial mesothelioma

Researchers working independently at the University of Hawaii Cancer Center and the National Cancer Institute have discovered, and validated, a new variant of mesothelioma that may lead to more successful treatments.

2 Sep 2025

Genomic clues uncover early origins of multiple myeloma

A new study maps out the timeline of DNA damage for multiple myeloma, the second most common blood cancer.

1 Sep 2025

New mouse models reveal mechanisms of RP59 retinal degeneration

Retinitis pigmentosa retinal degeneration is caused by a family of hereditary mutations in nearly 100 genes that slowly lead to blindness over years or decades.

29 Aug 2025