PMID- 18578644
OWN - NLM
STAT- MEDLINE
DCOM- 20081017
LR  - 20161124
IS  - 1527-0297 (Print)
IS  - 1527-0297 (Linking)
VI  - 9
IP  - 2
DP  - 2008 Summer
TI  - Gene expression in chronic high altitude diseases.
PG  - 130-9
LID - 10.1089/ham.2007.1077 [doi]
AB  - Chronic mountain sickness (CMS) and high altitude pulmonary hypertension (HAPH) 
      have been well described in different mountainous regions of the world as chronic 
      high altitude (HA) diseases. This review briefly summarizes the available data 
      from some genes known to be regulated by hypoxia-inducible factor 1 (HIF-1) 
      and/or by hypoxia that have been studied in populations from these regions 
      suffering from CMS and/or HAPH. Excessive erythrocytosis, caused by a lower 
      oxygen saturation and hypoxic ventilatory response and/or ventilatory 
      inefficiency, is the outstanding sign of CMS, and right ventricular enlargement, 
      pulmonary hypertension, and remodeling of pulmonary arterioles are hallmarks of 
      HAPH. Familial character and heritability studies have suggested that genetic 
      factors could make a contribution to the pathogenesis of CMS and HAPH. Even 
      though some alleles are more prevalent (G allele of eNOS polymorphism Glu298Asp 
      in Sherpas and ACE I allele in HAPH Kyrgyz) or less prevalent (ACE D allele in HA 
      Andeans) in the different high altitude populations, published data to date are 
      insufficient for a rigorous test of any hypothesis regarding the implications of 
      these gene polymorphims in CMS or HAPH.
FAU - Leon-Velarde, Fabiola
AU  - Leon-Velarde F
AD  - Laboratorio de Fisiologia Comparada, Departamento de Ciencias Biologicas y 
      Fisiologicas, Facultad de Ciencias y Filosofia, Universidad Peruana Cayetano 
      Heredia, Lima, Peru. fleonvelarde@upch.edu.pe
FAU - Mejia, Olga
AU  - Mejia O
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - High Alt Med Biol
JT  - High altitude medicine & biology
JID - 100901183
RN  - 0 (Hypoxia-Inducible Factor 1)
RN  - 0 (Vascular Endothelial Growth Factors)
RN  - EC 1.14.13.39 (Nitric Oxide Synthase Type III)
RN  - EC 2.7.2.3 (Phosphoglycerate Kinase)
RN  - EC 3.4.15.1 (Peptidyl-Dipeptidase A)
SB  - IM
MH  - Acclimatization/*genetics
MH  - Alleles
MH  - Altitude
MH  - Altitude Sickness/*genetics
MH  - Chronic Disease
MH  - *Gene Expression
MH  - Humans
MH  - Hypertension, Pulmonary/*genetics
MH  - Hypoxia/*genetics
MH  - Hypoxia-Inducible Factor 1/genetics
MH  - Nitric Oxide Synthase Type III/genetics
MH  - Peptidyl-Dipeptidase A/genetics
MH  - Phosphoglycerate Kinase/genetics
MH  - Polymorphism, Genetic
MH  - Vascular Endothelial Growth Factors/genetics
RF  - 88
EDAT- 2008/06/27 09:00
MHDA- 2008/10/18 09:00
CRDT- 2008/06/27 09:00
PHST- 2008/06/27 09:00 [pubmed]
PHST- 2008/10/18 09:00 [medline]
PHST- 2008/06/27 09:00 [entrez]
AID - 10.1089/ham.2007.1077 [doi]
PST - ppublish
SO  - High Alt Med Biol. 2008 Summer;9(2):130-9. doi: 10.1089/ham.2007.1077.