Association of mitochondrial DNA polymorphisms and/or haplogroups with elite Japanese athlete status
Association of mitochondrial DNA polymorphisms and/or haplogroups with elite Japanese athlete status
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DOI：
10.7600/jpfsm.2.17
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发表时间：
2013-03
期刊：
影响因子：
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通讯作者：
N. Fuku;E. Mikami;Masashi Tanaka
中科院分区：
文献类型：
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作者：
N. Fuku;E. Mikami;Masashi Tanaka
许多家族和双生子研究评估了遗传和环境因素对体能或其相关性状的相对贡献，并估计其表型有重要的遗传成分。此外，有氧能力已被发现有更强的母系遗传比父系。这一发现意味着母系遗传的mtDNA编码蛋白质参与氧化磷酸化的功能差异影响有氧运动能力。因此，在这篇文章中，我们专注于mtDNA多态性/单倍型群和优秀日本运动员的地位之间的关联。从mtDNA控制区的测序分析，某些mtDNA多态性和单倍型群被证明与日本优秀耐力运动员的状态有关，可能是由于心肌和骨骼肌或两者中线粒体的ATP产生增强。这一现象与以前关于高加索人和非洲人的几份报告一致。值得注意的是，某些mtDNA多态性或单倍型群也与日本优秀短跑运动员/力量状态相关，可能是由于骨骼肌中钙动力学增强。因此，mtDNA多态性/单倍型群不仅影响有氧运动能力，而且影响无氧运动能力。
Abstract A number of familial and twin studies have assessed the relative contribution of ge-netic and environmental factors to physical performance or its-related traits and have estimated that there is a significant genetic component to their phenotypes. In addition, aerobic capacity has been found to have stronger maternal inheritance than paternal. This finding implies that functional differences in maternally inherited mtDNA-encoded proteins involved in oxidative phosphorylation affect aerobic performance. In this article, therefore, we focus on associa-tions between mtDNA polymorphisms/haplogroups and elite Japanese athlete status. From sequencing analysis of the control region in the mtDNA, certain mtDNA polymorphisms and haplogroups were shown to be associated with elite Japanese endurance athlete status, prob-ably due to enhanced ATP production by mitochondria in the cardiac and skeletal muscles or both. This phenomenon is in agreement with several previous reports on Caucasian and African populations. It should be noted that certain mtDNA polymorphisms or haplogroups are also associated with elite Japanese sprint athlete/power status, probably due to enhanced calcium dynamics in the skeletal muscle. Thus, mtDNA polymorphisms/haplogroups influence not only aerobic performance but also anaerobic performance.