In a study published in The New England Journal of Medicine, a team including researchers from King’s has found a link between a genetic mutation that affects cellular oxygen sensing and a patient’s limited exercise capacity.
In a study published in The New England Journal of Medicine, a team including researchers from King’s has 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 physiology in simulated high altitude, measured their exercise capacity, and performed a series of metabolic tests.
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.
Read more at King's College London
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