Mutation News and Research

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Unraveling the Co-Evolution of Human Height and Basal Metabolic Rate

Taller stature and a higher basal metabolic rate are two characteristics that distinguish modern humans from non-human primates. A genetic variant that helped these traits co-evolve was discovered by researchers and published in Cell Genomics.

22 May 2025

New Discovery Explains Increased Infection Risk in Patients with Mitochondrial Diseases

Patients with rare mitochondrial diseases already face a host of serious health issues, from muscle weakness to neurological problems and heart conditions.

21 May 2025

Carriers of Recessive Disorders Face Hidden Health and Reproductive Problems

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring.

16 May 2025

DiffInvex Reveals Genetic Escape Routes Used by Tumors Against Treatment

Just as species adapt over generations, our body's cells accumulate DNA changes throughout life. Most are harmless, yet a few "driver" mutations give a cell a competitive edge and can spark cancer.

14 May 2025

Millennia-Old Mutation Provides Clues to Modern HIV Immunity

What connections exist between a millennia-old human from the Black Sea region and contemporary HIV medicine?

12 May 2025

Depleting TM6SF2 in the Gut Worsens Liver Fat Buildup, Study Finds

A new study finds that gut-specific TM6SF2 depletion exacerbates liver fat accumulation and dysbiosis in mice on high-fat diets, highlighting its importance in gut-liver metabolic regulation.

12 May 2025

Same Gene Mutations Can Require Different Treatments in Autism and Schizophrenia

For patients with disorders such as autism and schizophrenia, mutations in the same gene could require different treatments, according to new research from Yale School of Medicine (YSM).

6 May 2025

Key Regulators of Mutant Huntingtin Protein in Neuronal Transport

Ten years ago, researchers from the University at Buffalo provided some insight into a long-standing neuroscience conundrum: How precisely does Huntington's disease result from a mutation in the huntingtin protein (HTT)?

6 May 2025

New Gene Editing Tool Alters Mitochondrial Mutation Levels in Stem Cells

Mitochondrial diseases affect approximately 1 in 5,000 people worldwide, causing debilitating symptoms ranging from muscle weakness to stroke-like episodes.

5 May 2025

Single DNA Mutation Dysregulates Key Tumor-Suppressing Pathways in Blood Cancer

Australian researchers have discovered that a single mutation in the DNA sequence for a methylation enzyme dysregulates key tumor-suppressing pathways, opening up new avenues for blood cancer treatment.

30 Apr 2025

Transitioning Pancreatic Cells Retain Cancer Linked Epigenetic Marks

Johns Hopkins Medicine scientists say they have found a pattern of so-called epigenetic "marks" in a transition state between normal and pancreatic cancer cells in mice, and that the normal cells may keep at least a temporary "memory" of those cancer-linked marks.

25 Apr 2025

Researchers Develop STITCHR to Insert Whole Genes Without Unwanted Mutations

Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing tool that can insert therapeutic genes into specific locations without causing unwanted mutations.

12 Apr 2025

New Genetic Insights From Long Read Sequencing in a Teen With Complex Psychiatric Conditions

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.

12 Apr 2025

Genetic Sequencing Leads to Major Discovery in Neurodevelopmental Disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

11 Apr 2025

Japanese Researchers Develop New Assay to Detect Epigenetic Toxicity

Chemicals used as food preservatives, flavoring agents, dyes, pesticides, cosmetics, cleaners, and other industrial materials are being increasingly recognized as a health hazard.

11 Apr 2025

Breakthrough Delivery System Advances CRISPR-Based Treatments

A research team from Helmholtz Munich and the Technical University of Munich has developed an advanced delivery system that transports gene-editing tools based on the CRISPR/Cas9 gene-editing system into living cells with significantly greater efficiency than before.

10 Apr 2025