title: Physiological variables and mitochondrial-related genotypes of an athlete who excels in both short and long-distance running.
abstract: We report the athletic, physiological and mitochondrial-related genomic data of an Israeli endurance runner. He is holding the Israeli record in 10,000, 5000, 1500 and 800 m run, along with being one of the best Israeli 400 m runners. We tested the ACTN3 R577X, and six polymorphisms in the PPARGC1A-NRF-TFAM pathway genes. The case athlete was heterozygous for the ACTN3 R577X variation and had five out of six 'endurance-oriented' genotypes, scoring significantly high in endurance 'optimal' genotype profile. In conclusion, we suggest that the case athlete is favoured by polygenic profile that is more suitable for mitochondrial biogenesis, regardless of his good phenotypic accomplishments in short-term running events.
authors.affiliation: Department of Nutritional Sciences, School of Health Sciences, Ariel University Center, Israel. eynon@wincol.ac.il
authors.forename: Nir
authors.initials: N
authors.lastname: Eynon
authors.forename: Ruth
authors.initials: R
authors.lastname: Birk
authors.forename: Yoav
authors.initials: Y
authors.lastname: Meckel
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
authors.forename: Dan
authors.initials: D
authors.lastname: Nemet
authors.forename: Alon
authors.initials: A
authors.lastname: Eliakim
mesh_terms: D000185:Actinin / Q000235:genetics; D000328:Adult; D056352:Athletes; D004272:DNA, Mitochondrial / Q000235:genetics*; D005080:Exercise Test; D051268:GA-Binding Protein Transcription Factor / Q000235:genetics; D056726:Genetic Association Studies; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D010101:Oxygen Consumption; D047492:Peroxisome Proliferator-Activated Receptors / Q000235:genetics; D011110:Polymorphism, Genetic; D012420:Running / Q000502:physiology*; D017422:Sequence Analysis, DNA; D014142:Track and Field / Q000502:physiology*
chemical_list: C118456:ACTN3 protein, human; D004272:DNA, Mitochondrial; D051268:GA-Binding Protein Transcription Factor; D047492:Peroxisome Proliferator-Activated Receptors; D000185:Actinin