Researchers have discovered a genetic mutation that could reduce a patient’s ability to exercise efficiently.

The team – which included staff from King's College London and University Luigi Vanvitelli in Naples, Italy – identified a patient who had a reduced rate of growth, persistent low blood sugar, limited exercise capacity and a very high number of red blood cells.

The researchers 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, the powerhouse of the cell that uses oxygen to fuel cellular life.

The mutation reduced mitochondrial function efficiency limits the patient’s aerobic exercise capacity compared to people without the mutation.

VHL is fundamental for cells to survive when oxygen availability is reduced.

The research establishes the basis for the study of new mutations that affect the oxygen sensing pathways – and the way these mutations are associated with the integrative function of the human body as a whole.

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," said Dr Federico Formenti, School of Basic & Medical Biosciences, one of the leading authors of the study.

The study, titled Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria, was published in The New England Journal of Medicine.

• To read the full study, click here.