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Hypoxia01:23

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High twin resemblance for sensitivity to hypoxia.

Evi Masschelein1, Ruud Van Thienen, Martine Thomis

  • 11Exercise Physiology Research Group, Department of Kinesiology, KU Leuven, Leuven, BELGIUM; and 2Physical Activity, Sports and Health Research Group, Department of Kinesiology, KU Leuven, Leuven, BELGIUM.

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Summary

Genetic factors significantly influence physiological responses to acute hypoxia, including cardiorespiratory function and exercise tolerance. These genetic factors also play a role in the development of acute mountain sickness (AMS).

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Area of Science:

  • Human Physiology
  • Exercise Physiology
  • Genetics

Background:

  • Individual physiological responses to hypoxia exhibit variability.
  • Genetic predisposition is a potential factor influencing these responses.

Purpose of the Study:

  • To investigate the role of genetic factors in physiological responses to acute hypoxia using a monozygotic twin design.
  • To examine cardiorespiratory responses, exercise tolerance, and acute mountain sickness (AMS) development in relation to genetic influence.

Main Methods:

  • Thirteen pairs of monozygotic twin brothers underwent normobaric hypoxia (10.7% fraction of inspired O2) and normoxia conditions.
  • Cardiorespiratory measurements and 8-hour urine output were collected during rest, submaximal exercise (EXSUB), and maximal exercise (EXMAX).
  • Hypoxia-induced changes in physiological parameters and AMS incidence were analyzed for within-pair and between-pair variance.

Main Results:

  • Hypoxia significantly decreased arterial oxygen saturation, maximal oxygen uptake, maximal heart rate, and maximal ventilation, while increasing resting and submaximal heart rate and ventilation.
  • Substantial between-pair variance, exceeding within-pair variance, was observed for changes in oxygen saturation, maximal oxygen uptake, heart rate during exercise, hypoxic ventilatory response, and urinary norepinephrine output, indicating genetic influence.
  • Acute mountain sickness (AMS) incidence showed significant twin similarity, with AMS subjects exhibiting greater urinary norepinephrine reduction and a lower hypoxic ventilatory response.

Conclusions:

  • Genetic factors significantly regulate cardiorespiratory responses, exercise tolerance, and AMS pathogenesis during acute severe hypoxia.
  • A downregulation of the sympathetic nervous system during hypoxia was associated with the development of AMS.