Short communicationMitochondrial haplogroup T is negatively associated with the status of elite endurance athlete
Introduction
Exercise capacity depends on various factors, such as oxygen uptake and oxygen utilization at the mitochondria. The maximal oxygen uptake (VO2 max) reaches a maximum value after optimal endurance training, and sets the upper limit of endurance capacity (Lortie et al., 1984, DiPrampero, 2003). As endurance capacity improves, several physiological and metabolic adaptations occur, such as an increase in capillary and mitochondria density in muscles (Holloszy and Coyle, 1984, Hoppeler et al., 1985, Zoll et al., 2002). Mitochondria are the cellular organelles that perform the metabolic reactions necessary to generate energy as adenosine triphosphate (ATP). Most of the mitochondrial proteins are encoded by genes in the nucleus, and these gene products are imported from the cytoplasm, but mitochondria also contain their own DNA (mtDNA) in a single circular chromosome, and their own machinery for synthesising RNA and proteins. The mitochondrial genome consists of 37 intronless genes that encode 13 subunits of the electron-transfer chain, 2 ribosomal RNAs (rRNA), and 22 transfer RNAs (tRNA).
Because mitochondria are in every cell of each tissue, mutations in mtDNA are frequently associated with multisystemic diseases (DiMauro and Schon, 2003). In some cases, the disease is directly linked to mtDNA-mutations, and follows a maternal transmission pattern (mitochondrial DNA is inherited from the mother). Mutations in mtDNA could reduce the capacity to produce ATP, and this impairment in energy supply could affect cardiac muscle contraction and neuronal function, among others. In addition to rare mutations, commonly associated with diseases, mtDNA is highly polymorphic. These single nucleotide polymorphisms (SNPs) have accumulated sequentially along radiating female lineages, giving rise to a wide variety of mitochondrial haplogroups (Torroni et al., 1996). The characterisation of these mtDNA-haplogroups is an important tool to investigate the origin and relationships of human populations. In addition, this mtDNA-variation could contribute to the expression of mitochondrial-related diseases, and carriers of a particular allele or haplogroup could be at a higher or lower risk for these diseases (Van der Walt et al., 2003, Nishigaki et al., 2007).
It is well known that trainability and exercise capacity differs from one person to another, and this individual difference is determined by environmental/life-style and genetic (inherited) factors (Lesage et al., 1985, Bouchard and Lortie, 1986, Hamel et al., 1986). Maximal aerobic power (VO2 max) and other determinants of endurance performance are largely inherited, and the response of VO2 max to endurance training differs between individuals (Bouchard et al., 1998). In recent years, the polymorphisms at several genes have been related with individual differences in the optimization of endurance training, and these polymorphisms could be related with the capacity to reach the status of elite endurance athlete (Montgomery et al., 1998, Alvarez et al., 2000, Rankinen et al., 2004).
Taking into account the role of mitochondria’s oxidative activity on endurance capacity, the mtDNA-variation could be related with individual differences in trainability and physical capacity (Dionne et al., 1991, Murakami et al., 2001). In this work, we genotyped endurance elite athletes and healthy controls for several mitochondrial polymorphisms. Our aim was to determine the role of these mtDNA-polymorphisms in the capacity to reach the status of endurance elite athlete.
Section snippets
Elite athletes and controls
The study included a total of 95 male elite endurance athletes. They were Spanish, aged 20- to 40-years-old, and professional cyclists (n = 50), long-distance runners (n = 25), and long-distance rowers (n = 20). They were recruited through the Fundación Deportiva Municipal-Avilés, a Sports-Medicine Centre in the region of Asturias (Northern Spain). Table 1 summarizes the main physical parameters in these individuals, including the maximum VO2 and heart beats. A total of 250 Spanish healthy male,
Results and discussion
In this study, we analysed eight mitochondrial polymorphisms in 95 elite endurance athletes and 250 controls. Allele 13368A was at a higher frequency in controls compared to athletes (8% vs. 1%, p = 0.012, Fisher’s exact test). These data indicated that 13368A could be a mitochondrial DNA marker related with a lower adaptation to endurance training, thus being a negative factor to become an elite endurance athlete. The eight polymorphic sites analysed define nine common mitochondrial
Acknowledgements
This work has been supported by Premio Nacional de Investigación en Medicina del Deporte-Univ. Oviedo-2005. Authors wish to thank all the individuals participating in this research.
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2015, Advances in Clinical ChemistryCitation Excerpt :Maruszak et al. [116] have also shown that haplogroup K was less prevalent in 130 male Polish endurance athletes than in 413 controls, while haplogroups H, HV, and m.16080G allele were overrepresented in elite endurance athletes compared with elite power athletes or controls. Haplogroup T was significantly less frequent among 95 Spanish elite endurance athletes in comparison with 250 healthy male population controls [117]. Recently, Scott et al. [118] have shown a greater proportion of L0 haplogroups and lower proportion of L3* haplogroups in 70 Kenyan elite endurance athletes compared to controls (Kenyan population, n = 85).
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2014, MitochondrionCitation Excerpt :A point that could be critiqued is that haplogroup T was compared with all other haplogroups pooled into one group; however, this was done in order to compare the results with other published ones. Both haplogroups J and T have been described as sister haplogroups that share a common root (Ruiz-Pesini et al., 2004) and different studies support the idea that these two haplogroups are characterized by the presence of uncoupling mutations that, in combination with certain nuclear backgrounds, leads to a decreased ATP production (Castro et al., 2007; Ruiz-Pesini et al., 2000) and consequently to a reduced ROS generation (Kenney et al., 2014; Mishmar et al., 2003; Ruiz-Pesini et al., 2004; Wallace et al., 2003). The possible explanation for this population-specific association could arise from the fact that each of these two mtDNA variants could present an advantage to different environmental conditions, as described in other cases (Domínguez-Garrido et al., 2009).