Mutation News and Research

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Importance of localizing BRCA gene mutations for ovarian cancer treatment

Mutations in the BRCA1 and BRCA2 genes, which are inherited by 1 in 400 and 1 in 800 persons, respectively, elevate the risk of various malignancies such as ovarian, breast, pancreatic, and prostate cancer considerably.

30 Nov 2022

Fastest-evolved regions of the human genome diverged rapidly after split from chimpanzee ancestor

A team of Duke researchers has identified a group of human DNA sequences driving changes in brain development, digestion and immunity that seem to have evolved rapidly after our family line split from that of the chimpanzees, but before we split with the Neanderthals.

24 Nov 2022

RNA-targeting strategy to repair the genetic cause of ALS and dementia

Researchers at UF Scripps Biomedical Research have created a potential treatment for a major factor in the development of ALS and dementia that functions by removing disease-causing RNA segments.

24 Nov 2022

Highlighting the potential of new techniques to study mental disorders

Researchers investigating the fundamental brain mechanics of autism spectrum disorder have discovered that a gene mutation known to be connected with the illness causes considerably more overstimulation of brain cells than in neuronal cells without the mutation.

23 Nov 2022

Revealing the functional significance of DDX41 in great detail

The DDX41 gene encodes the nuclear enzyme DEAD-box-type RNA helicase. Hematopoietic malignancies are caused by DDX41 mutations. However, the mechanism behind the development of this malignancy remains unknown.

21 Nov 2022

Enzymes hold the answer to understanding how DNA mutates

According to recent research from the University of Surrey, enzymes, which are essential for regulating how cells replicate in the human body, could be the very component that encourages DNA to spontaneously mutate, leading to potentially permanent genetic errors.

From University of Surrey 17 Nov 2022

Revealing cancer development in people carrying inherited BRCA1 mutations

Researchers from Weill Cornell Medicine have discovered that people who inherit a mutant copy of the BRCA1 gene may develop mutations and cancer due to error-prone DNA replication and repair.

16 Nov 2022

Investigating the direct effect of mutation on sperm behavior

A team of researchers discovered that the activity of sperm cells is attributable in part to the individual DNA make-up of these cells, rather than just male genetics.

From New York University (NYU) 16 Nov 2022

Gene editing technique makes new kinds of research possible in animal models

Working in teeny tiny worms, scientists can now test the effects of thousands of genetic mutations in one fell swoop.

3 Nov 2022

Novel technique expedites research into the genetics of aging

A novel technique for identifying the genes that are important for aging has been discovered by scientists at North Carolina State University.

3 Nov 2022

Immunological mechanisms behind the development of alloantibodies

Hemophilia A is the most frequent severe variant of hemophilia. It nearly mostly affects men. The condition is frequently treatable, although not for all patients. A study at the University of Bonn has now highlighted a critical mechanism required for the therapy to be efficient.

28 Oct 2022

Meiotic drive systems can be maintained for long evolutionary timespans

Meiotic drivers, which are a sort of selfish gene, are, in fact, selfish. They are found in nearly all species’ genomes, including humans, and unfairly convey their genetic information to more than half of their offspring, resulting in infertility and impaired organism health.

21 Oct 2022

Nonconducting W434F mutant varies in structure and conformation

Potassium (K+) channels are tiny, highly specialized conduits found in every live cell that transfer K+ ions in an exceedingly selective and quick manner across cell membranes.

13 Oct 2022

Distinct roles of aging and genetics on expression phenotypes

Research conducted by the University of California, Berkeley, found that individual distinctions in human DNA matter less as people age and become more susceptible to aging disorders like diabetes and cancer.

10 Oct 2022

Novel means to prevent and treat gonorrhea

According to scientists from the Georgia State University’s Institute for Biomedical Sciences, producing a mutation that impedes the way the bacterial pathogen Neisseria gonorrhoeae transmits gonorrhea might provide a novel means to prevent and treat the disease.

26 Sep 2022

Novel molecular mechanism of focal adhesion kinase inhibition in HD

Principal researchers at the Brain Science Institute (BSI) of the Korea Institute of Science and Technology were said to have discovered substantially decreased activity of focal adhesion kinase (FAK) proteins that play a significant role in neurite motility and proper synapse formation in HD patients’ brain tissues.

19 Sep 2022