Gene expression in the Andes; relevance to neurology at sea level

Otto Appenzeller, Tamara Minko, Vitaly Pozharov, Maurizio Bonfichi, Luca Malcovati, Jorge Gamboa, Luciano Bernardi

Research output: Contribution to journalArticlepeer-review


Chronic mountain sickness (CMS), a maladaptation syndrome to chronic hypoxia, occurs in the Andes. Gene expression differences in Andeans could explain adaptation and maladaptation to hypoxia, both of which are relevant to neurology at sea level. Expression of genes responsive to cellular oxygen concentration, hypoxia-inducible factor-1α (HIF-1α), three splicing variants of vascular endothelial growth factor (VEGF) and von Hippel-Lindau protein (pVHL) was measured by reverse transcription polymerase chain reaction (RT-PCR) in 12 Cerro de Pasco (CP) (altitude 4338 m) natives and 15 CMS patients in CP. Thirteen high altitude natives living in Lima and five Lima natives were sea level controls. A CMS score (CMS-sc) was assigned clinically. Expression was related to the clinical assessment. High expression of HIF-1α and VEGF-121 was found in CMS (P

Original languageEnglish
Pages (from-to)37-41
Number of pages5
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - Mar 15 2003


  • Aging
  • Gene expression in Andeans
  • Human chronic hypoxia
  • Nervous system

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)


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