genetic mutation tagged posts

A previously unidentified genetic mutation in a small protein provides significant protection against Parkinson’s disease and offers a new direction for exploring potential treatments, according to a new USC Leonard Davis School of Gerontology study.

The variant, located in a mitochondrial microprotein dubbed SHLP2, was found to be highly protective against Parkinson’s disease; individuals with this mutation are half as likely to develop the disease as those who do not carry it. The variant form of the protein is relatively rare and is found primarily in people of European descent.

The findings appear in the journal Molecular Psychiatry.

First discovered by Pinchas Cohen at the USC Leonard Davis School in 2016, SHLP2 is made within the cell’s...

MIT biologists have answered an important biological question: Why do cells control their size? Cells of the same type are strikingly uniform in size, while cell size differs between different cell types. This raises the question of whether cell size is important for cellular physiology.

The new study suggests that cellular enlargement drives a decline in function of stem cells. The researchers found that blood stem cells, which are among the smallest cells in the body, lose their ability to perform their normal function — replenishing the body’s blood cells — as they grow larger. However, when the cells were restored to their usual size, they behaved normally again.

The researchers also found that blood stem cells tend to enlarge as they age...

 Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria. New England Journal of Medicine, 2020; 382 (9): 835 DOI: 10.1056/NEJMoa1907362

A team of researchers have discovered a genetic mutation that reduces a patient’s ability to exercise efficiently.

In a study published in The New England Journal of Medicine, a team including researchers from King’s College London have found a link between a genetic mutation that affects cellular oxygen sensing and a patient’s limited exercise capacity.

The team identified a patient who had a reduced rate of growth, persistent low blood sugar, a limited exercise capacity and a very high number of red blood cells.

The team carried out genetic and protein analysis of the patient, examined their respiratory physiolog...