Association of the mitochondrial DNA haplogroup J with longevity is population specific

Dato, Serena; Passarino, Giuseppe; Rose, Giuseppina; Altomare, K.; Bellizzi, Dina; Mari, Vincenzo; Feraco, E; Franceschi, Claudio; Benedictis, G. De

doi:10.1038/sj.ejhg.5201278

Cited by 90 publications

(63 citation statements)

References 11 publications

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“…This mutation can increase the risk of Parkinson disease as a variation associated with haplogroup H [37]. The T489C variant is found more frequent in some populations and disorders [38,39]. The T146C variant is important in phylogenic analysis and has been reported in ovarian cancer and mitochondrial myopathies [40,41].…”

Section: Discussionmentioning

confidence: 99%

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Seyedhassani

Houshmand

Kalantar

et al. 2010

J Assist Reprod Genet

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Purpose Repeated pregnancy loss (RPL) occurs in 1 out of 300 couples, and the cause of about 50% of them remains idiopathic. Mitochondria have an important role in human development through ATP production and their involvement in apoptosis. Methods 96 RPL and 96 control females were used to investigate the frequency of deletions and point mutations in the displacement loop (D-loop) on mitochondria. Multiplex PCR and DNA sequencing methods were used to detect possible variations in the mitochondrial DNA (mtDNA).Results No deletions but a high frequency of point mutations were found in RPL females; among 129 variations observed in RPL, 22 mutations were significant (P<0.05) and the insertion of C in nucleotide 114 was novel. Conclusion High rate of mutations in D-loop of mtDNA was observed in maternal blood, a fact that may have a direct or indirect role in inducing RPL. The results can be used in the assessment of RPL and designing possible treatments for improving assisted reproduction.

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Section: Discussionmentioning

confidence: 99%

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Seyedhassani

Houshmand

Kalantar

et al. 2010

J Assist Reprod Genet

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“…Aside from the fact that the athletic cohorts used in some reports were heterogeneous (composed of athletes of mixed sports disciplines), thereby involving phenotype variability, discrepancy between studies might arise from the different genetic backgrounds, as well as the different living environments, of the populations studied. In fact, when existing, the possible effect of mitochondrial haplogroups on other important biological phenotypes (notably longevity) seems to be population specific, with some geographic/environmental factors (notably altitude exposure) explaining differences between studies, together with diversity of ethnic backgrounds (17). On the other hand, the possible influence of complex interactions between nuclear and mitochondrial genomes on athletic status cannot be discarded and warrants future research (10).…”

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confidence: 99%

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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“…In humans, specific naturally occurring mitochondrial genetic variants are overrepresented among centenarians, but only in certain populations (Niemi et al ., 2003;Dato et al ., 2004). These findings raise two specific questions: (i) Are these effects due solely to mitochondrial genetics or might they be due to nuclearmitochondrial gene interactions?…”

Section: Introductionmentioning

confidence: 99%

Variation in mitochondrial genotype has substantial lifespan effects which may be modulated by nuclear background

Clancy¹

2008

Aging Cell

122

156

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SummaryMitochondria are thought to play a central role in aging. In humans, specific naturally occurring mitochondrial genetic variants are overrepresented among centenarians, but only in certain populations; therefore, we cannot tell whether this effect is due solely to mitochondrial genetics or to nuclear-mitochondrial gene complexes, nor do we know the magnitude of the effect in terms we can relate to, such as mean lifespan differences. To examine the effects of natural mitochondrial DNA (mtDNA) variation on lifespan, we need to vary the mitochondrial genotype while controlling the nuclear genotype. Here, nuclear genome replacement is achieved using strains of Drosophila melanogaster bearing multiply inverted 'balancer' chromosomes that suppress recombination, and an isogenic donor strain, thus forcing replacement of entire chromosomes in a single cross while suppressing recombination. Lifespans of wild-type mtDNA variants on the chromosome replacement background vary substantially, and sequencing of the entire protein coding mitochondrial genomes indicates that these lifespan differences are sometimes associated with single amino acid differences. On other nuclear genetic backgrounds, the magnitude and direction of these lifespan effects can change dramatically, and this can be due to changes in baseline mortality risk, rate of aging and/or time of onset of aging. The limited mtDNA variation in D. melanogaster makes it an ideal organism for biochemical studies to link genotype and aging phenotype.

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Association of the mitochondrial DNA haplogroup J with longevity is population specific

Cited by 90 publications

References 11 publications

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

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

Variation in mitochondrial genotype has substantial lifespan effects which may be modulated by nuclear background

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