Mutation News and Research

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Rapid Cell-Free Crystallization Method Reveals 3D Structures of Flexible Sugars

A quick, purification-free method was developed by researchers at Institute of Science Tokyo, to capture the detailed 3D structures of flexible sugar molecules.

31 Oct 2025

Protein Dysfunction Could be the Cause of Diseases Resulting From Shortened Telomeres

New research from the University of Wisconsin–Madison reveals that dysfunction in a protein essential to maintaining stability in our chromosomes may be responsible for serious - and sometimes deadly - diseases.

31 Oct 2025

Mutation in NAMPT Gene Found to Cause Rare Neurological Disease

An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown genetic disease that affects movement and muscle control.

28 Oct 2025

New Retron-Based Gene Editing Method Corrects Multiple Disease-Causing Mutations

Some genetic disorders-such as cystic fibrosis, hemophilia and Tay Sachs disease-involve many mutations in a person's genome, often with enough variation that even two individuals who share the same disorder might have a different combination of mutations.

24 Oct 2025

Longevity Gene from Centenarians Reverses Heart Damage in Rare Genetic Disorder

A new breakthrough in a rare genetic disease which causes children to age rapidly has been discovered using 'longevity genes' found in people who live exceptionally long lives - over 100 years old.

16 Oct 2025

Revolutionary Technique Produces Trillions of Healthy Endothelial Cells

Scientists have discovered a method to induce human endothelial cells from a small biopsy sample to multiply in the laboratory, producing more than enough cells to replace damaged blood vessels or nourish organs for transplantation, according to a preclinical study by Weill Cornell Medicine investigators.

15 Oct 2025

PNPLA3 Gene Variant Linked to Liver Injury After Chemotherapy in Colorectal Cancer Patients

A new international study led by Mayo Clinic researchers has identified a genetic factor that may explain why some patients with colorectal cancer that has spread to the liver experience more severe liver damage after chemotherapy.

30 Sep 2025

RyR1-Mediated CICR Plays Minimal Role in Normal Skeletal Muscle Contraction

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.

26 Sep 2025

Cryo-EM Study Uncovers Hidden Steps in NMDA Receptor Activation

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.

25 Sep 2025

Enhancing Genome Editing Through Systematic CAST Optimization

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

25 Sep 2025

Cheesemaking Inspires New Insights into Fungal Evolution and Food Security

Many scientific discoveries are serendipitous-the result of chance. Seeing evolution in action in a cheese cave turned out to be exactly that for Benjamin Wolfe, associate professor of biology, and his colleagues.

15 Sep 2025

Engineered Base Editor Corrects ACTA2 Mutation in Rare Childhood Disease

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

13 Sep 2025

Blocking SUMO2 Protein may be a Winning Strategy Against Synovial Sarcoma

In the sport of sumo, a bout most commonly ends when one competitor is pushed or thrown outside of a ring of straw bales partially buried in clay.

8 Sep 2025

Scientists Identify Human Proteins Essential for SARS-CoV-2 Infection and 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

Tackling KRAS Mutations Unlocks New Hope for Pancreatic Cancer Patients

Accounting for nearly 90% of all pancreatic cancers, pancreatic ductal adenocarcinoma (PDAC) has a five-year survival rate of just 13%. Late-stage diagnosis, limited surgical options, and toxic chemotherapy regimens contribute to its poor outcomes.

2 Sep 2025

RNA Binding Proteins and EVs Offer Clues to Cancer's Evasion of Immune Response

Certain types of biochemical processes can impair the immune system's ability to recognize and kill cancer cells. Purdue University's W. Andy Tao and his associates have developed a new way to study these processes.

27 Aug 2025

New Insights Reveal Bacterial Roots of Key Plant Hormone Enzymes

Terpenoids play vital roles in plant ecology-from repelling pests to attracting pollinators-and are produced by terpene synthases (TPSs) enzymes.

19 Aug 2025

New Enzyme Technology Illuminates Hidden Sugar Patterns on Cells

Sugars known as glycans form dense envelopes around cells. But they're often ignored in biological investigations because, unlike DNA, proteins and other cellular components, tools to study them are lacking.

18 Aug 2025

Smaller Scale Mutations in HNF1A Gene Nudge Millions Toward Type-2 Diabetes

Mutations in a single gene, HNF1A, are known to cause MODY3, a rare, early onset form of diabetes.

7 Aug 2025

Parkinson’s Gene Mutation Blocks Vital Neuroprotective Signals

GBA1 mutations impair ciliary Hedgehog signaling in Parkinson's disease, reducing neuroprotective factors and highlighting a shared pathogenic pathway.

7 Aug 2025