MADRID, Feb. 28 (EUROPE PRESS) –
A team of researchers has discovered a genetic mutation that reduces the patient’s ability to exercise efficiently, according to a study published in The New England Journal of Medicine.
Researchers at King’s College London have found a link between a genetic mutation that affects the detection of cellular oxygen and a patient’s limited exercise capacity.
The team identified a patient who had a reduced growth rate, low persistent blood sugar, 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 at simulated altitude, measured their exercise capacity and performed a series of metabolic tests.
The von Hippel-Lindau (VHL) gene is essential for cells to survive when oxygen availability is reduced. After genetic analysis, an alteration in this gene was identified and associated with impaired functionality in the patient’s mitochondria, the nerve center of the cell that uses oxygen to feed cell life.
This reduced efficiency of mitochondrial function limits the patient’s aerobic exercise capacity compared to people without the mutation.
Dr. Federico Formenti, Faculty of Basic and Medical Biosciences, one of the main authors of the study, explains that “the discovery of this mutation and the associated phenotype is exciting because it allows a deeper understanding of human physiology, especially in terms of how the human body detects and responds to the reduced availability of oxygen. “
A new syndrome that can alter the regulation of human metabolism and skeletal muscle function has been discovered. This research sets the stage for the study of new mutations that affect the oxygen detection pathways and the way in which these mutations are associated with the integrating function of the human body as a whole.
Improving our understanding of these mechanisms can also contribute to the treatment of hypoxic conditions, he concludes.
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