Mutation News and Research

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A 3D explanation of SPOP’s role in cancer

The protein SPOP, which also plays a role in endometrial, uterine, and other cancers, is the most mutated in prostate cancer. Despite its significance, it is still unclear how SPOP mutations cause cancer.

26 Jan 2023

Enhancing the efficacy of CRISPR/Cas9 and related methods

The effectiveness of molecular genetic techniques like CRISPR/Cas9 and related systems has been significantly improved, and their range of applications has been expanded, by researchers from the Department of Developmental Biology/Physiology at the Centre for Organismal Studies of Heidelberg University.

26 Jan 2023

New genetic condition that raises vulnerability to opportunistic infections

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including life-threatening fungal pneumonia.

24 Jan 2023

Potential to rectify various disease-causing mutations enhanced by CRISPR-based enzymes

Designing genome editing strategies for each patient’s mutation would be impractical and expensive because many genetic diseases are induced by diverse mutations spread across an entire gene.

18 Jan 2023

Detecting the extent of natural selection over time

Institut Pasteur, Université Paris Cité, the CNRS, and the Collège de France researchers have employed paleogenomics to trace 10,000 years of human immune system evolution. They examined the genomes of over 2,800 individuals who lived in Europe over the past 10 millennia.

From Institut Pasteur 18 Jan 2023

Insights into the role of the germline in de novo mutation

The male reproductive system is a hotspot for the introduction of new genes. Perhaps that might assist in understanding why fathers tend to pass on more new mutations than mothers do. However, it does not explain why older fathers pass on more mutations than younger fathers.

16 Jan 2023

Point-of-care program boosts genetic testing for prostate cancer

Certain prostate cancer patients have genetic mutations that could affect how they are treated. According to a study published in Urology Practice®, an Official Journal of the American Urological Association (AUA), a comprehensive, on-site genetic testing program developed by urologists could help close the gap for this underutilized resource.

16 Dec 2022

Understanding the step-by-step development of E. coli resistance to drugs

Antibiotic resistance, which occurs when infection-causing bacteria evolve to the point where they are no longer affected by conventional antibiotics, is a worldwide concern.

15 Dec 2022

Using CRISPR technology to reduce the symptoms of Huntington’s disease

A neurological condition called Huntington's disease (HD) results in a progressive decline in movement, coordination, and mental ability. It is brought on by a mutation in the huntingtin, or HTT, gene.

From UC San Diego 14 Dec 2022

Analyzing progenitor fate and dynamics long after embryonic development

According to Johns Hopkins Medicine researchers, they have devised a computer model called quantitative fate mapping that looks back in time to track the origin of cells in a fully grown organism.

14 Dec 2022

Revealing the unappreciated role of POLQ in responding to DNA replication stress

Researchers at the Francis Crick Institute, in partnership with Artios, have discovered how an enzyme involved in DNA repair (POLQ) becomes critical to the survival of some tumors when the cancer cells lose the ability to employ a more frequent way of DNA repair.

1 Dec 2022

Microglial cells trigger inflammatory protective mechanisms in the immune system

Microglia, the brain’s own immune cells, are present in the central nervous system.

1 Dec 2022

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