Polymorphisms in Control Region of mtDNA Relates to Individual Differences in Endurance Capacity or Trainability.

Murakami, Haruka; Ota, Akemi; Simojo, Hitoshi; Okada, Morihiko; Ajisaka, Ryuichi; Kuno, Shinya

doi:10.2170/jjphysiol.52.247

Cited by 44 publications

(40 citation statements)

References 32 publications

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“…Both polymorphisms are located in areas with relatively low sequence heterogeneity, have arisen multiple times in human evolution, are present in all major human races, and have been reported to likely have functional consequences (2,33). 16519T is associated with diabetes and a poorer prognosis in individuals with pancreatic cancer (31), and a physiological effect of this polymorphism is also suggested by its complex effects on human exercise physiology (30). 3010A defines two East Asian subhaplogroups, J1 and D4, which are overrepresented in centenarians (32), but 3010A by itself has not previously been found to be statistically associated with human disease other than CVS and migraine (2).…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders

Camilleri

Carlson

Zinsmeister³

et al. 2009

American Journal of Physiology-Gastrointestinal and Liver Physi

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Our hypothesis is that these mtDNA SNPs are associated with functional GI disorders (FGIDs) and GI functions. The mt genome was first tested for the 7028C polymorphism (defining haplogroup H) in 699 patients or controls, and those with 7028C were further genotyped at 16519 and 3010. Phenotypes were based on symptoms (validated questionnaires and criteria) and GI physiology using validated motor and sensory studies. Constipation-predominant IBS and alternating constipation and diarrhea IBS are less prevalent in individuals with the 7028C mtDNA polymorphism than in individuals with 7028T. Conversely, 7028C is associated with higher maximum tolerated volume (lower satiation) compared with 7028T. Among those with 7028C, nonspecific abdominal pain (chronic abdominal pain or dyspepsia) was significantly associated with 3010A compared with 3010G (odds ratio 3.3, P ϭ 0.02), and slower gastric emptying was statistically associated with 3010G. There were no significant associations of mtDNA genotypes tested and stomach volumes, small bowel or colonic transit, rectal compliance, and motor or sensory functions. Thus variation in mtDNA may be associated with satiation, gastric emptying, and possibly pain; further studies of mtDNA in appetite regulation and larger numbers of patients with FGIDs are warranted.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders

Camilleri

Carlson

Zinsmeister³

et al. 2009

American Journal of Physiology-Gastrointestinal and Liver Physi

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“…These results suggested that sequence variations in mtDNA may contribute to individual differences in both the baseline levels and the trainability of V O 2max . A more recent study showed an association between some mtDNA control region polymorphisms and endurance and trainability capacity in sedentary men (55). The authors found associations for V O 2max at pretraining with sites 16298, 16325, and 199 and for the training responsiveness of V O 2max with sites 16223 and 16362.…”

Section: Mitochondrial Dna and Elite Athletic Statusmentioning

confidence: 92%

The champions' mitochondria: is it genetically determined? A review on mitochondrial DNA and elite athletic performance

Eynon

Morán

Birk

et al. 2011

Physiological Genomics

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Eynon N, Morán M, Birk R, Lucia A. The champions' mitochondria: is it genetically determined? A review on mitochondrial DNA and elite athletic performance. Physiol Genomics 43: 789 -798, 2011. First published May 3, 2011 doi:10.1152/physiolgenomics.00029.2011.-Aerobic ATP generation by the mitochondrial respiratory oxidative phosphorylation system (OXPHOS) is a vital metabolic process for endurance exercise. Notably, mitochondrial DNA (mtDNA) codifies 13 of the 83 polypeptides implied in the respiratory chain. As such, there is a strong rationale for identifying an association between mtDNA variants and "aerobic" (endurance) exercise phenotypes. The aim of this review is to summarize current knowledge on the association between mtDNA, nuclear genes involved in mitochondriogenesis, and elite endurance athletic status. Several studies in nonathletic people have demonstrated an association between certain mtDNA lineages and aerobic performance, characterized by maximal oxygen uptake (V O2max). Whether mtDNA haplogroups are also associated with the status of being an elite endurance athlete is more controversial, with differences between studies arising from the different ethnic backgrounds of the athletic cohorts (Caucasian of mixed geographic origin, Asiatic, or East African).

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“…8,9 Furthermore, patients with mutations in mtDNA commonly present with exercise intolerance, muscle weakness and increased production of lactic acid. 10 An association has been found between several mtDNA control region polymorphisms and endurance capacity in sedentary men, 11 and between morph variants of MTND5 and the level of maximum oxygen uptake, 12 suggesting that certain mtDNA lineages may contribute to good aerobic performance. Endurance runners should have highly efficient ATP production by OXPHOS, whereas sprinters may rely more on anaerobic glycolysis.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

2005

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Differences in ACTN3 (alpha-actinin 3) genotypes have been reported among endurance and power athletes. Elite athletic performance in endurance sports should also depend on mitochondrial oxidative phosphorylation (OXPHOS) that produces ATP for muscle metabolism. We determined mitochondrial DNA (mtDNA) and ACTN3 genotypes in Finnish elite endurance (n ¼ 52) and sprint (n ¼ 89) athletes, and found that the frequencies of mtDNA haplogroups differed significantly between the two groups. Most notably, none of the endurance athletes belonged to haplogroup K or subhaplogroup J2, both of which have previously been associated with longevity. The frequency of ACTN3 XX genotype was higher and that of RR was lower among Finnish endurance athletes, and, in addition, none of the top Finnish sprinters had the XX genotype. Lack of mtDNA haplogroup K and subhaplogroup J2 among elite endurance athletes suggests that these haplogroups are 'uncoupling genomes'. Such genomes should not be beneficial to endurance-type athletic performance but should be beneficial to longevity, since uncoupling of OXPHOS reduces the production of ATP, reduces the release of reactive oxygen species and generates heat.

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Polymorphisms in Control Region of mtDNA Relates to Individual Differences in Endurance Capacity or Trainability.

Cited by 44 publications

References 32 publications

Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders

Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders

The champions' mitochondria: is it genetically determined? A review on mitochondrial DNA and elite athletic performance

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

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