Polymorphisms in the Control Region of Mitochondrial DNA Associate with Elite Japanese Athlete Status

单倍群 线粒体DNA 人线粒体DNA单倍型 遗传学 线粒体dna控制区 生物 运动员 等位基因频率 单倍型 等位基因 医学 基因 物理疗法
作者
Eri Miyamoto‐Mikami,Noriyuki Fuku,Hideyuki Takahashi,Nao Ohiwa,Yannis P. Pitsiladis,Mitsuru Higuchi,Takashi Kawahara,Masashi Tanaka
出处
期刊:Medicine and Science in Sports and Exercise [Lippincott Williams & Wilkins]
卷期号:43 (5): 51-51
标识
DOI:10.1249/01.mss.0000402824.28806.d5
摘要

Mitochondrial haplogroups G1 and F derived from the analysis of haplogroup-specific polymorphisms in the control region (hypervariable sequence I) of mitochondrial DNA (mtDNA) were found to associate with elite Japanese athlete status (Mikami et al, Br J Sports Med, 2010 [Epub ahead of print]). The mitochondrial DNA control region contains various non-haplogroup-specific polymorphisms that have previously been found to associate with trainability in VO2max, metabolic syndrome and type 2 diabetes mellitus; all closely related to mitochondrial function. PURPOSE: To identify the polymorphisms in the control region of mtDNA that may significantly association with elite Japanese athlete status. METHODS: Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (i.e. 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON) (http://mtsnp.tmig.or.jp/mtsnp/index.shtml). The mtDNA control region (m.16024-576) was analyzed by direct sequencing and polymorphisms were identified by comparison with the revised Cambridge Reference Sequence. Frequency differences of polymorphisms between athletes and controls were examined by Chi-square tests. RESULTS: When the frequencies of common polymorphisms (minor allele frequency >1%) in the mtDNA control region were compared between athletes and controls, the frequencies of 4 polymorphisms were significantly different between EMA and CON (m.16140T>C, m.152T>C, m.514delCA and poly-C stretch at m.568-573) and another 4 polymorphisms between SPA and CON (m.16278C>T, m.151C>T, m.203G>A and m.204T>C). Two of these polymorphisms, namely m.151C>T (EMA-related polymorphism) and m.152T>C (SPA-related polymorphism), are located near the second heavy-strand replication origin, and m.151C>T has been associated with increased mtDNA content in patients with type 2 diabetes mellitus. CONCLUSIONS: These findings suggest that several polymorphisms detected in the control region of mtDNA may influence physical performance due to changes in transcription and replication of mtDNA.
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