PMID- 14761704
OWN - NLM
STAT- MEDLINE
DCOM- 20040628
LR  - 20131121
IS  - 0163-7258 (Print)
IS  - 0163-7258 (Linking)
VI  - 101
IP  - 2
DP  - 2004 Feb
TI  - The genetic basis of high-altitude pulmonary oedema.
PG  - 183-92
AB  - High-altitude pulmonary oedema (HAPE) is a potentially fatal condition affecting 
      fit and previously well individuals at altitudes in excess of 3000 m. This 
      article discusses the mechanisms of HAPE, considers the contribution of hypoxic 
      pulmonary vasoconstriction and alterations in sodium transport to the 
      pathological process. It discusses the various biochemical mediators such as 
      nitric oxide (NO), endothelin-1 (ET-1), and the renin-angiotensin-aldosterone 
      system (RAS) that may be involved and considers possible oxygen-sensing 
      mechanisms involved in hypoxic adaptation such as hypoxia-inducible factor-1 
      (HIF-1). Those who have had HAPE once run an unpredictable but significant risk 
      of recurrence; therefore, there may be a constitutional or genetic component in 
      its aetiology. This paper considers the possible involvement of genes that may be 
      involved in physiological adaptation to hypoxia (e.g., angiotensin-1 
      [AT(1)]-converting enzyme [ACE], tyrosine hydroxylase, serotonin transporter 
      [5-HTT], and endothelial NO synthase [eNOS] genes). As yet, no formal association 
      has been identified between an identified genetic polymorphism and HAPE, but 
      genetic variation provides a possible mechanism to explain interindividual 
      variation in response to hypoxia and enhanced or reduced performance at altitude.
FAU - Mortimer, Heather
AU  - Mortimer H
AD  - Scottish Pulmonary Vascular Unit, Western Infirmary, Dumbarton Road, Glasgow G11 
      6NT, UK. hjmortimer@doctors.org.uk
FAU - Patel, Sam
AU  - Patel S
FAU - Peacock, Andrew J
AU  - Peacock AJ
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Pharmacol Ther
JT  - Pharmacology & therapeutics
JID - 7905840
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (HIF1A protein, human)
RN  - 0 (Hypoxia-Inducible Factor 1)
RN  - 0 (Hypoxia-Inducible Factor 1, alpha Subunit)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
RN  - 11096-26-7 (Erythropoietin)
RN  - 31C4KY9ESH (Nitric Oxide)
RN  - EC 1.14.13.39 (Nitric Oxide Synthase)
SB  - IM
MH  - Altitude Sickness/complications/*genetics
MH  - Animals
MH  - DNA-Binding Proteins/metabolism
MH  - Erythropoietin/genetics/metabolism
MH  - Humans
MH  - Hypoxia-Inducible Factor 1
MH  - Hypoxia-Inducible Factor 1, alpha Subunit
MH  - Nitric Oxide/metabolism
MH  - Nitric Oxide Synthase/metabolism
MH  - Nuclear Proteins/metabolism
MH  - Polymorphism, Genetic
MH  - Pulmonary Edema/etiology/*genetics/metabolism
MH  - Renin-Angiotensin System/genetics/physiology
MH  - *Transcription Factors
RF  - 93
EDAT- 2004/02/06 05:00
MHDA- 2004/06/29 05:00
CRDT- 2004/02/06 05:00
PHST- 2004/02/06 05:00 [pubmed]
PHST- 2004/06/29 05:00 [medline]
PHST- 2004/02/06 05:00 [entrez]
AID - S0163725803001669 [pii]
AID - 10.1016/j.pharmthera.2003.11.003 [doi]
PST - ppublish
SO  - Pharmacol Ther. 2004 Feb;101(2):183-92. doi: 10.1016/j.pharmthera.2003.11.003.