Performance enhancing genetic variants, oxygen uptake, heart rate, blood pressure and body mass index of elite high altitude mountaineers.
OBJECTIVE
To analyse and compare the ACE (angiotensin-converting enzyme), ACTN3 (actinin-3) and AMPD1 (adenosine monophosphate deaminase 1) genetic variants, oxygen uptake (VO2max), heart rate (HR), blood pressure (BP) and body mass index (BMI) of elite high altitude mountaineers and average athletes.


METHODS
Elite Bulgarian alpinists (n = 5) and control group of athletes (n = 72) were recruited. VO2max was measured using a treadmill graded protocol. HR, BP and BMI were recorded. Genotyping was done by polymerase chain reaction (PCR) amplification followed by agarose gel electrophoresis. Chi2-test and Fisher's exact test were used for statistical analysis.


RESULTS
Alpinists showed significantly higher frequencies of 60% ACE I allele (p = 0.002), 50% ACTN3 X allele (p = 0.032) and 30% AMPD1 T allele (p = 0.003) compared to controls - 39%, 36%, 13%, respectively. ACE ID genotype prevalence and null DD genotype were observed in mountaineers. Higher absolute VO2max, but no differences in VO2max ml kg-1 min-1, HR, oxygen pulse, blood pressure and BMI were found.


CONCLUSIONS
The ID genotype and higher frequencies of ACE I allele could contribute to successful high altitude ascents in mountaineers. The genetic make-up of the two mountaineers who made the summit of Mt Everest was distinctive, revealing ACE ID genotype, mutant ACTN3 XX and AMPD1 TT genotypes.
University of Zululand, South Africa Department of Biochemistry and Microbiology Private Bag X1001 KwaDlangezwa 3886 South Africa.
T
T
Djarova
D
D
Bardarev
D
D
Boyanov
R
R
Kaneva
P
P
Atanasov
D000659:AMP Deaminase / Q000235:genetics*; D000185:Actinin / Q000235:genetics*; D000328:Adult; D000368:Aged; D000483:Alleles; D000531:Altitude; D056352:Athletes; D001794:Blood Pressure / Q000235:genetics; D015992:Body Mass Index; D014644:Genetic Variation / Q000502:physiology*; D006339:Heart Rate; D006801:Humans; D008875:Middle Aged; D009051:Mountaineering / Q000502:physiology*; D010100:Oxygen / Q000502:physiology; D010101:Oxygen Consumption / Q000235:genetics*; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D055815:Young Adult
C118456:ACTN3 protein, human; D000185:Actinin; D007703:Peptidyl-Dipeptidase A; D000659:AMP Deaminase; C514117:AMPD1 protein, human; D010100:Oxygen