Link between genetic mutation that affects cellular oxygen sensing and the ability to exercise


Senior Member
Scientists find link between genes and ability to exercise
February 26, 2020

King's College London

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 von Hippel-Lindau (VHL) gene is fundamental for cells to survive when oxygen availability is reduced. Following genetic analysis, an alteration on the VHL gene was identified and associated with impaired functionality in the patient's mitochondria, the powerhouse of the cell that uses oxygen to fuel cellular life. This reduced mitochondrial function efficiency limits the patient's aerobic exercise capacity compared to people without the mutation. . . .
See, Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria. New England Journal of Medicine, 2020; 382 (9): 835 DOI: 10.1056/NEJMoa1907362
We report changes in gene expression that reprogram carbohydrate and lipid metabolism, impair muscle mitochondrial respiratory function, . . .
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Psalm 46:1-3
Great Lakes
This sounds so much like ME/CFS. I wish they could find out if there is a link. I wonder what SNP ID number it has.