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Related Experiment Videos

Gene expression, autonomic function and chronic hypoxia:lessons from the Andes.

Otto Appenzeller1, Tamara Minko, Clifford Qualls

  • 1New Mexico Health Enhancement and Marathon Clinics Research Foundation, Albuquerque, NM 87122-1424, USA. oarun@unm.edu

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society
|April 4, 2006
PubMed
Summary

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High altitude exposure alters gene expression in humans, impacting autonomic function. These gene expression changes may be crucial for adapting to hypoxia and could inform treatments for related diseases.

Area of Science:

  • Physiology
  • Molecular Biology
  • Genetics

Background:

  • Autonomic function is known to be affected by high altitude.
  • Gene expression is hypothesized to modulate these physiological responses to altitude.

Purpose of the Study:

  • To compare gene product levels in high-altitude natives with and without chronic mountain sickness (CMS) to sea-level residents.
  • To investigate the role of hypoxia-inducible factor 1-alpha (HIF-1α), vascular endothelial growth factor (VEGF) variants (VEGF-121, VEGF-165), and phosphoglycerate kinase 1 (PGK 1) in altitude adaptation.

Main Methods:

  • Gene product levels were measured in white blood cells using reverse transcription polymerase chain reaction (RT-PCR).
  • Comparisons were made between natives of Cerro de Pasco (CP) at 4338 m (with and without CMS) and US residents at 1500 m.

Related Experiment Videos

  • Gene expression was also assessed in CP natives after a brief descent to sea level.

    • Main Results:

    • Normal CP natives exhibited higher gene expression than US controls, which normalized at sea level.
    • Individuals with CMS showed elevated gene products in CP, which decreased but remained higher than US values at sea level.
    • VEGF-165 levels were significantly higher in CP natives with CMS and correlated with CMS severity and inversely with arterial oxygen saturation.

    Conclusions:

    • Environmental stress, such as high altitude, induces significant changes in human gene expression.
    • These gene expression alterations are linked to physiological adaptations to ambient hypoxia.
    • Findings suggest potential therapeutic targets for autonomic and neurodegenerative diseases by understanding altitude-induced gene expression changes.