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Gene expression in chronic high altitude diseases.
Fabiola León-Velarde1, Olga Mejía
1Laboratorio de Fisiología Comparada, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú. fleonvelarde@upch.edu.pe
High Altitude Medicine & Biology
|June 27, 2008
Summary
Genetic factors may contribute to chronic mountain sickness (CMS) and high altitude pulmonary hypertension (HAPH). However, current data on gene polymorphisms in high-altitude populations are insufficient to confirm their role in these chronic high-altitude diseases.
Area of Science:
- Altitude medicine
- Human genetics
- Physiology
Background:
- Chronic mountain sickness (CMS) and high altitude pulmonary hypertension (HAPH) are prevalent chronic high-altitude diseases.
- These conditions are characterized by excessive erythrocytosis (CMS) and pulmonary hypertension with right ventricular enlargement (HAPH).
- Genetic factors are suggested to play a role in the pathogenesis of CMS and HAPH.
Purpose of the Study:
- To review available data on genes regulated by hypoxia-inducible factor 1 (HIF-1) and/or hypoxia.
- To examine the studied genes in high-altitude populations affected by CMS and/or HAPH.
- To assess the current evidence for genetic contributions to CMS and HAPH.
Main Methods:
- Literature review of studies on gene polymorphisms in high-altitude populations.
- Focus on genes regulated by hypoxia-inducible factor 1 (HIF-1) and/or hypoxia.
- Analysis of allele prevalence in populations with CMS and HAPH.
Main Results:
- Some gene polymorphisms (e.g., eNOS Glu298Asp G allele in Sherpas, ACE I allele in Kyrgyz HAPH) show different prevalences.
- Specific alleles (e.g., ACE D allele in Andean populations) are less prevalent.
- Published data are currently insufficient for rigorous hypothesis testing.
Conclusions:
- Genetic factors are implicated in the development of CMS and HAPH.
- Further research is needed to rigorously test hypotheses regarding gene polymorphisms in these high-altitude diseases.
- Understanding genetic predispositions may inform future prevention and treatment strategies.
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