Mutation News and Research

RSS

Researchers Uncover New Genetic Mutation Linked to Rare Form of Congenital Thyroid Abnormality

A team of researchers from the University of Chicago, in collaboration with the Free University of Brussels and the University of Washington, have uncovered a genetic mutation in a non-coding region of DNA that alters the regulation of the thyroid, leading to a rare form of congenital thyroid abnormality.

9 May 2024

New Study Uncovers Direct Link Between Learning and Memory Impairment and Specific Gene

A gene previously associated with intellectual disability has been discovered to play a role in regulating learning and memory in mice.

9 May 2024

Epigenomic Analysis Reveals Potential Treatment Avenues for ALS

For most patients, it's unknown exactly what causes amyotrophic lateral sclerosis (ALS), a disease characterized by degeneration of motor neurons that impairs muscle control and eventually leads to death.

3 May 2024

New Study Sheds Light on Genetic Adaptations of Papua New Guinean Populations

Papua New Guinea (PNG) has a wide range of environments, each presenting unique challenges to human survival. Highlanders and lowlanders of PNG are striking examples of populations facing distinct environmental stress.

2 May 2024

St. Jude Scientists Reveal Role of Non-Coding DNA Variants in Childhood Leukemia

St. Jude Children's Research Hospital scientists have identified specific DNA variants in the non-coding regions of the genome contributing to chemotherapy resistance in acute lymphoblastic leukemia (ALL).

2 May 2024

New Method Sheds Light on How Protein Modifications Power T Cells

Imagine riding a bike. Now imagine riding a bike with an enormous beach ball stuck on your handlebars. That "modification" might change your experience quite a bit.

30 Apr 2024

New Study Discovers Gene Associated with Epilepsy and Autism

A genetic mutation or variation in the SCN2A gene is known to cause infantile seizures, autism spectrum disorder, and intellectual disability, among other moderate-to-severe impairments in movement, communication, feeding, and vision.

29 Apr 2024

Revealing the Genetic Mechanisms Driving SARS-CoV-2 Variants

The SARS-CoV-2 virus, responsible for COVID-19, exhibits a troubling tendency to produce variants frequently.

23 Apr 2024

Study Offers Valuable Insights Into Mutagenesis Mechanisms and Cancer Evolution

Mutations are the changes in the DNA that gradually occur in human cells as they replicate, and the organism grows and ages.

13 Apr 2024

Understanding Prostate Cancer Disparities Through Proteogenomics

Certain proteogenomic signatures in the prostate cancers of men of African and European ancestries were associated with higher risk of metastasis and/or recurrence of the disease, according to a study presented at the American Association for Cancer Research (AACR) Annual Meeting 2024, held April 5-10.

10 Apr 2024

AI Predicts Mutations for Improved Protein Function

To design proteins with beneficial functions, researchers typically start with a natural protein possessing a desirable function, such as emitting fluorescent light.

5 Apr 2024

Gut Microbiota Signatures Linked to KRAS Mutations in Colorectal Cancer Patients

For about 40% of people diagnosed with colorectal cancer (CRC), the tumor carries a mutation in a gene called KRAS. Many of those mutations have been linked to shorter survival and more aggressive forms of disease.

5 Apr 2024

New Platform Reveals Individual Sensitivity to Disease-Causing Mutations

In humans, the exact same mutation in a specific gene can produce widely different outcomes. It's a bit like adding the same amount of salt to different recipes-;the effect on the finished dish can be quite different, depending on the mix of other ingredients.

4 Apr 2024