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The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific.

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Date
2014-06
Authors
Raule, Nicola
Sevini, Federica
Li, Shengting
Barbieri, Annalaura
Tallaro, Federica
Lomartire, Laura
Vianello, Dario
Montesanto, Alberto
Moilanen, Jukka S
Bezrukov, Vladyslav
Blanché, Hélène
Hervonen, Antti
Christensen, Kaare
Deiana, Luca
Gonos, Efstathios S
Kirkwood, Tom BL
Kristensen, Peter
Kristensen, Peter
Leon, Alberta
Pelicci, Pier Giuseppe
Poulain, Michel
Rea, Irene M
Remacle, Josè
Robine, Jean Marie
Schreiber, Stefan
Sikora, Ewa
Eline Slagboom, Peternella
Spazzafumo, Liana
Antonietta Stazi, Maria
Toussaint, Olivier
Vaupel, James W
Rose, Giuseppina
Majamaa, Kari
Perola, Markus
Johnson, Thomas E
Bolund, Lars
Yang, Huanming
Passarino, Giuseppe
Franceschi, Claudio
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Abstract
To re-examine the correlation between mtDNA variability and longevity, we examined mtDNAs from samples obtained from over 2200 ultranonagenarians (and an equal number of controls) collected within the framework of the GEHA EU project. The samples were categorized by high-resolution classification, while about 1300 mtDNA molecules (650 ultranonagenarians and an equal number of controls) were completely sequenced. Sequences, unlike standard haplogroup analysis, made possible to evaluate for the first time the cumulative effects of specific, concomitant mtDNA mutations, including those that per se have a low, or very low, impact. In particular, the analysis of the mutations occurring in different OXPHOS complex showed a complex scenario with a different mutation burden in 90+ subjects with respect to controls. These findings suggested that mutations in subunits of the OXPHOS complex I had a beneficial effect on longevity, while the simultaneous presence of mutations in complex I and III (which also occurs in J subhaplogroups involved in LHON) and in complex I and V seemed to be detrimental, likely explaining previous contradictory results. On the whole, our study, which goes beyond haplogroup analysis, suggests that mitochondrial DNA variation does affect human longevity, but its effect is heavily influenced by the interaction between mutations concomitantly occurring on different mtDNA genes.
Type
Journal article
Subject
genetics of longevity
longevity
mitochondrial DNA
mtDNA sequencing
oxidative phosphorylation
Aged, 80 and over
DNA, Mitochondrial
Female
Humans
Longevity
Male
Mutation
Oxidative Phosphorylation
Permalink
https://hdl.handle.net/10161/14698
Published Version (Please cite this version)
10.1111/acel.12186
Publication Info
Raule, Nicola; Sevini, Federica; Li, Shengting; Barbieri, Annalaura; Tallaro, Federica; Lomartire, Laura; ... Franceschi, Claudio (2014). The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific. Aging Cell, 13(3). pp. 401-407. 10.1111/acel.12186. Retrieved from https://hdl.handle.net/10161/14698.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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Scholars@Duke

Vaupel

James Walton Vaupel

Research Professor Emeritus in the Sanford School of Public Policy
This author no longer has a Scholars@Duke profile, so the information shown here reflects their Duke status at the time this item was deposited.
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