ArticleBMJ case reports2009
C34T mutation of the AMPD1 gene in an elite white runner.
Article in BMJ case reports, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetics of long-distance runners and road cyclists-A systematic review with meta-analysis.Scandinavian journal of medicine & science in sports · 2022Pooled it
- Article
- Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing.European journal of applied physiology · 2022Review
- Genetic profiles to identify talents in elite endurance athletes and professional football players.PloS one · 2022Article
- Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players.Frontiers in genetics · 2022Article
- To Be a Champion of the 24-h Ultramarathon Race. If Not the Heart ... Mosaic Theory?International journal of environmental research and public health · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The case is reported of an elite, male, white endurance runner (28 years of age), who is one of the best non-African runners in the world despite carrying the C34T mutation in the gene (AMPD1) that encodes the skeletal muscle specific isoform of AMP deaminase, an enzyme important in muscle metabolism. The frequency of the mutant allele in sedentary white people is 8-11%. Previous research has shown that this mutation, at least in homozygotes, can impair the exercise capacity of untrained people and their trainability. The maximum oxygen uptake (VO(2MAX)) of the study subject was exceptionally high (83.6 mlO(2)/kg/min), whereas his ammonia and lactate concentrations at high submaximal running speeds were lower than those of other world class runners who are not carriers of the mutation. The partial metabolic deficiency of the study subject is possibly compensated for by his exceptionally favourable anthropometric characteristics (body mass index 18.2 kg/m(2)).
Identifiers
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Registered trials
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