Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians

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Previous studies have shown that mitochondrial DNA (mtDNA) haplogroup J is significantly over-represented in healthy centenarians with respect to younger controls, thus suggesting that this haplogroup predisposes to successful aging and longevity. On the other hand, the same haplogroup is reported to have elevated frequency in some complex diseases. To verify if centenarians clustered in a particular lineage within J we have sequenced the D-loop region from 18 centenarians and 18 younger controls, previously characterized to be J. Then the entire mtDNA molecule was sequenced in a sub-sample of nine centenarians to find possible functional mutations associated with haplogroup J in successful aging. No clustering of the J haplogroup mtDNA from centenarians was observed. In addition, most of the mutations found are known as disease-associated mutations. The general picture that emerges from the study is that the J haplogroup of centenarians is surprisingly similar to that found in complex diseases, as well as in Leber Hereditary Optic Neuropathy. This finding implies that the same mutations could predispose to disease or longevity, probably according to individual-specific genetic backgrounds and stochastic events. This data reveals another paradox of centenarians and confirms the complexity of the longevity trait.


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Work financed by Italian Ministry of University & Scientific and Technology Research (MURST Project: Genetics factors involved in human aging and longevity, 2000-2002), by National Institute for Aging Research, INRCA (contract to GD Benedictis) and by the Ellison Medical Foundation.

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Correspondence to Giovanna De Benedictis.

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Rose, G., Passarino, G., Carrieri, G. et al. Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians. Eur J Hum Genet 9, 701–707 (2001) doi:10.1038/sj.ejhg.5200703

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  • aging
  • longevity
  • mitochondrial DNA

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