Human mitochondrial haplogroup H: The highest VO2max consumer – Is it a paradox?

Martínez-Redondo, Diana; Marcuello, Ana; Casajús, José Antonio; Ara, Ignacio; Dahmani, Y.; Montoya, Julio; Ruiz‐Pesini, Eduardo; López‐Pérez, Manuel J.; Dı́ez-Sánchez, Carmen

doi:10.1016/j.mito.2009.11.005

Cited by 113 publications

(104 citation statements)

References 52 publications

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“…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. Recent research on nonathletic Spanish individuals showed a negative association between the J haplogroup, which is related to a lower efficiency of electron transport chain, diminished ATP and ROS production, and V O 2max (48,50). Interestingly, we recently found lower frequency of the J haplogroup in Spanish world-class endurance athletes compared with nonathletic control subjects and elite power athletes (unpublished data).…”

Section: Mitochondrial Dna and Elite Athletic Statusmentioning

confidence: 67%

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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Section: Mitochondrial Dna and Elite Athletic Statusmentioning

confidence: 67%

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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“…The risks of developing PD and AD within the Western European are higher among mtDNA haplogroup H, but lower for haplogroups J and K. 30,31 It is possible that the haplogroup H has significantly higher mitochondrial oxidative damage and higher VO (2max) (oxygen consumption) to produce more ROS. 32 It seems to be that the association between haplogroup U and the risks of sCJD needs further assays in a larger sample scale. mtDNA mutation in sCJD J Zhang et al…”

Section: Discussionmentioning

confidence: 99%

Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt–Jakob disease

Zhang

et al. 2014

Eur J Hum Genet

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Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause a variety of chronic diseases in central nervous system (CNS). However, the role of mtDNA mutations in sporadic Creutzfeldt-Jakob disease (sCJD) has still been unknown. In this study, we comparatively analyzed complete mtDNA sequences of 31 Chinese sCJD patients and 32 controls. Using MITOMASTER and PhyloTree, we characterized 520 variants in sCJD patients and 507 variants in control by haplogroup and allele frequencies. We classified the mtDNAs into 40 sub-haplogroups of 5 haplogroups, most of them being Asian-specific haplogroups. Haplogroup U, an European-specific haplogroups mtDNA, was found only in sCJD. The analysis to control region (CR) revealed a 31% increase in the frequency of mtDNA CR mutations in sCJD versus controls. In functional elements of the mtDNA CR, six CR mutations were in conserved sequence blocks I (CSBI) in sCJD, while only one in control (Po0.05). More mutants in transfer ribonucleic acid-Leu (tRNA-Leu) were detected in sCJD. The frequencies of two synonymous amino-acid changes, m.11467A4G, p.( ¼ ) in NADH dehydrogenase subunit 4 (ND4) and m.12372G4A, p.( ¼ ) in NADH dehydrogenase subunit 5 (ND5), in sCJD patients were higher than that of controls. Our study, for the first time, screened the variations of mtDNA of Chinese sCJD patients and identified some potential disease-related mutations for further investigations.

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“…Individuals with mitochondrial genotypes of the haplogroups J, K, and T were at reduced risk of late-onset PD [115, confirmed in a larger study in 104]. Haplogroup J mitochondrial DNA is associated with lowest oxygen consumption and lowest efficiency of electron transport chain and, respectively, lowest ATP and ROS production of all common haplogroups [31,96]. It may be speculated that this may result in lower levels of oxidative stress in mitochondria carrying DNA of haplogroup J than in mitochondria carrying DNA of other haplogroups.…”

Section: Breath Of Life (And Death) -Increased Atp Production Is Assomentioning

confidence: 96%

“…Generally, the higher the oxygen consumption, the higher amount of ATP synthesised, and, respectively, the higher the levels of ROS and the daily amount of oxidative damage to DNA. Haplogroup H is associated with highest oxygen consumption of all haplogroups and, respectively, highest output of ATP and ROS [31,96]. It is also the most common haplogroup in European populations.…”

Section: Breath Of Life (And Death) -Increased Atp Production Is Assomentioning

confidence: 99%

APOE4, oxidative stress and decreased repair capacity - a no-brainer. Faulty lipid metabolism and increased levels of oxidative damage may be risk factors in the pathogenesis of late-onset dementia

Nayyar

Chakalova²

2015

Biodiscovery

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Keywords: Late-onset disease, dementia, APOE, mitochondrial DNA, individual repair capacity.Abbreviations: AD -Alzheimer's disease, APOE -apolipoprotein E, ATP -adenosine triphosphate, BER -base excision repair, CAA -cerebral amyloid angiopathy, CNS -central nervous system, FTD -frontotemporal dementia, HD -Huntington's disease, IMT -intimamedia thickness, IRC -individual repair capacity, MCI -mild cognitive impairment, MND -motor neuron disease, NER -nucleotide excision repair, NMDA -N-methyl-D-aspartate, PD -Parkinson's disease, PDAPP -PDGF promoter expressing amyloid precursor protein, ROS -reactive oxygen species; SOD -superoxide dismutase, VCI -vascular cognitive decline.* Corresponding Authors: Ashima Nayyar, email: a.nayyar@abertay.ac.uk Conflict of Interests:No potential conflict of interest was disclosed by any of the authors. AbstractDementia is very common in the elderly and its incidence increases in an age-dependent fashion. Alzheimer's disease and vascular cognitive decline are the most common cases of dementia in the elderly. Amyloid burden and increased levels of oxidative damage have been implicated to play significant roles in the pathogenesis of late-onset dementia. In this paper we propose that there are three major genetic factors that may modulate the risk for dementia in later life: carriership of APOE variant alleles, carriership of mitochondrial DNA of haplogroups associated with ineffective oxygen utilisation (specifically, haplogroup H) and carriership of genetic polymorphisms conferring subtly deficient DNA repair. All three factors are quite common in the European populations. Each of these three factors may not have significant effect on the phenotype when taken separately, but when combined in the same genotype, the effects may be cumulative. Further studies are needed in order to elucidate the genotype-phenotype relationships and provide a reliable basis for assessment of the genetic risk for sporadic late-onset dementia. Lifestyle alterations and therapies targeted at decreasing the oxidative burden to aging cells and tissues may decrease the risk for neurological decline in later life.

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Human mitochondrial haplogroup H: The highest VO2max consumer – Is it a paradox?

Cited by 113 publications

References 52 publications

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

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

Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt–Jakob disease

APOE4, oxidative stress and decreased repair capacity - a no-brainer. Faulty lipid metabolism and increased levels of oxidative damage may be risk factors in the pathogenesis of late-onset dementia

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