Genetic Mutation Linked to Ability to Exercise Efficiently

A team of researchers has discovered a genetic mutation that reduces a patient's ability to exercise efficiently. Their findings were published today in The New England Journal of Medicine.

The study is centered around one 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.

Following genetic analysis, an alteration on the von Hippel-Lindau (VHL) gene was identified and associated with impaired functionality in the patient's mitochondria. This reduced mitochondrial function efficiency limited the patient's aerobic exercise capacity compared to people without the mutation.

"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," explained Dr Federico Formenti, of King’s College London and one of the lead authors of the study.