Title
Genetic mutation could reduce a patient's ability to exercise
Research Area
Health; Tackling Inactivity
Author
Perotta et al; The New England Journal of Medicine, 2020
Summary of Findings
A team of researchers have carried out genetic and protein analysis of patients, examining their respiratory physiology in simulated high altitude, their exercise capacity, and performed a series of metabolic tests.
They have discovered that a mutation on the von Hippel-Lindau gene (VHL) is associated with impaired functionality in an individual's mitochondria - the cell that uses oxygen to fuel cellular life to enable us to carry out basic functions - VHL is necessary for the survival of cells when oxygen availability is reduced.
The research paves the way 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.
Implications
We know there are a multitude of complex, nuanced reasons why people are more inactive than others and this research is a reminder that not all reasons for sedentary lifestyles and barriers to activity are visible or even known by individuals who are affected.
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