Texas Tech University, Lubbock, TX.
National Institute of Environmental Health Sciences, Research Triangle Park, NC.
Med Sci Sports Exerc. 2020 Nov;52(11):2303-2309. doi: 10.1249/MSS.0000000000002390.
We designed the study to determine whether mitochondrial DNA (mtDNA) haplogroup, sequence, and heteroplasmy differed between individuals previously characterized as low (LR) or high responders (HR) as defined by their maximal oxygen uptake response to a standardized aerobic exercise training program.
DNA was isolated from whole blood in subjects from the HERITAGE Family Study that were determined to be either HR (n = 15) or LR (n = 15). mtDNA was amplified by long-range polymerase chain reaction, then tagged with Nextera libraries and sequenced on a MiSeq instrument.
Different mtDNA haplogroup subtypes were found in HR and LR individuals. Compared with HR subjects, significantly more LR subjects had variants in 13 sites, including 7 in hypervariable (HV) regions: HV2 (G185A: 0 vs 6, P = 0.02; G228A: 0 vs 5, P = 0.04; C295T: 0 vs 6; P = 0.04), HV3 (C462T: 0 vs 5, P = 0.04; T489C: 0 vs 5; P = 0.04), and HV1 (C16068T: 0 vs 6, P = 0.02; T16125C: 0 vs 6, P = 0.02). Remaining variants were in protein coding genes, mtND1 (1 vs 8, P = 0.02), mtND3 (A10397G: 0 vs 5, P = 0.04), mtND4 (A11250G: 1 vs 8, P = 0.02), mtND5 (G13707A: 0 vs 5, P = 0.04), and mtCYTB (T14797C: 0 vs 5, P = 0.04; C15451A: 1 vs 8, P = 0.02). Average total numbers of heteroplasmies (P = 0.83) and frequency of heteroplasmies (P = 0.05) were similar between the groups.
Our findings provide specific sites across the mitochondrial genome that may be related to maximal oxygen uptake trainability.
我们设计本研究旨在确定先前根据最大摄氧量对标准化有氧训练方案的反应将个体定义为低（LR）或高（HR）反应者的个体之间是否存在线粒体 DNA（mtDNA）单倍群、序列和异质性的差异。
从 HERITAGE 家族研究中的个体的全血中分离 DNA，这些个体被确定为 HR（n=15）或 LR（n=15）。通过长距离聚合酶链反应扩增 mtDNA，然后用 Nextera 文库标记并在 MiSeq 仪器上进行测序。
在 HR 和 LR 个体中发现了不同的 mtDNA 单倍群亚型。与 HR 受试者相比，LR 受试者在 13 个位点的变异明显更多，包括 HV 区的 7 个：HV2（G185A：0 对 6，P=0.02；G228A：0 对 5，P=0.04；C295T：0 对 6；P=0.04）、HV3（C462T：0 对 5，P=0.04；T489C：0 对 5；P=0.04）和 HV1（C16068T：0 对 6，P=0.02；T16125C：0 对 6，P=0.02）。其余变异位于蛋白质编码基因 mtND1（1 对 8，P=0.02）、mtND3（A10397G：0 对 5，P=0.04）、mtND4（A11250G：1 对 8，P=0.02）、mtND5（G13707A：0 对 5，P=0.04）和 mtCYTB（T14797C：0 对 5，P=0.04；C15451A：1 对 8，P=0.02）。两组之间的异质性总数（P=0.83）和异质性频率（P=0.05）平均相似。
我们的研究结果提供了线粒体基因组中可能与最大摄氧量可训练性相关的特定位点。
