Mutation News and Research

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Breakthrough Gene Discovery Uncovers a Master Switch for Food Intake

The Gpr45 gene is linked to food intake regulation, offering insights for obesity therapies. Study utilizes Automated Meiotic Mapping for gene identification.

6 Jun 2025

Base Editing Breakthrough Brings Hope for Genetic Disease Treatment

You may have seen it in the news recently: a baby in Pennsylvania with a rare genetic disorder was healed with a personalized treatment that repaired his specific genetic mutation.

5 Jun 2025

PPP2R1A Gene Mutations Improve ATR Inhibitor Drug Effectiveness in Ovarian Clear Cell Cancers

A study in Oncogene shows that PPP2R1A mutations increase sensitivity to ATR inhibitors in ARID1A-mutant ovarian clear cell carcinoma, suggesting a potential biomarker for improved treatment strategies.

5 Jun 2025

New Study Details H9N2 Avian Flu’s Variability and Public Health Implications

Research on H9N2 avian influenza shows extensive genetic changes, raising public health concerns and emphasizing the need for enhanced monitoring and vaccines.

4 Jun 2025

Common Genetic Variation Doubles Dementia Risk in Men, Study Finds

Research reveals men with a genetic variant may face double the dementia risk compared to women, highlighting the need for targeted prevention strategies.

2 Jun 2025

Three-Dimensionally Reconstructed Kidney Glomerulus Simulates Structural and Functional Characteristics In Vitro

A 3D engineered kidney glomerulus model replicates structural and mechanical features of the glomerular filtration barrier, enabling the study of podocyte-related diseases and drug screening with improved physiological relevance.

2 Jun 2025

Cobraa: A Coalescence-Based Model Infers a Structured Ancestry Shared by Modern-Day Humans

The Cobraa model offers insights into human evolution, detailing ancestral population dynamics and genetic admixture events over the last 1.5 million years.

28 May 2025

Extracellular RNA Profiling Recommendations: Results From exRNAQC, a Comprehensive Assessment of Pre-Analytical Factors for Quality Control

A large-scale study (exRNAQC) outlines how blood tube type, RNA purification method, and processing time influence exRNA profiles. Results support new guidelines for researchers and diagnostic product developers working on RNA-based biomarkers.

28 May 2025

Mutation Profiling Reveals Therapeutic Targets in Lung Squamous Cell Carcinoma

Lung Squamous cell carcinoma (LSCC) represents the second most common non-small cell lung cancer. Although studies identified adenocarcinoma-like driver mutations in LSCC using next-generation sequencing (NGS), the disease is challenging to treat due to the limited number of detectable mutations for targeted drug therapy.

27 May 2025

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