LONDON (Dispatches) -- 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 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.
Dr Federico Formenti, School of Basic & Medical Biosciences, one of the leading authors of the study, comments: "The discovery of this mutation and the associated phenotype is exciting because it enables a deeper understanding of human physiology, especially in terms of how the human body senses and responds to reduced oxygen availability.”