Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: A GEHA study

Giuseppina Rose, Giuseppe Romeo, Serena Dato, Paolina Crocco, Amalia C. Bruni, Antti Hervonen, Kari Majamaa, Federica Sevini, Claudio Franceschi, Giuseppe Passarino

Research output: Contribution to journalArticle

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Abstract

Tissue specific somatic mutations occurring in the mtDNA control region have been proposed to provide a survival advantage. Data on twins and on relatives of long-lived subjects suggested that the occurrence/accumulation of these mutations may be genetically influenced. To further investigate control region somatic heteroplasmy in the elderly, we analyzed the segment surrounding the nt 150 position (previously reported as specific of Leukocytes) in various types of leukocytes obtained from 195 ultra-nonagenarians sib-pairs of Italian or Finnish origin collected in the frame of the GEHA Project. We found a significant correlation of the mtDNA control region heteroplasmy between sibs, confirming a genetic influence on this phenomenon. Furthermore, many subjects showed heteroplasmy due to mutations different from the C150T transition. In these cases heteroplasmy was correlated within sibpairs in Finnish and northern Italian samples, but not in southern Italians. This suggested that the genetic contribution to control region mutations may be population specific. Finally, we observed a possible correlation between heteroplasmy and Hand Grip strength, one of the best markers of physical performance and of mortality risk in the elderly. Our study provides new evidence on the relevance of mtDNA somatic mutations in aging and longevity and confirms that the occurrence of specific point mutations in the mtDNA control region may represent a strategy for the age-related remodelling of organismal functions.

Original languageEnglish
Article numbere13395
JournalPLoS One
Volume5
Issue number10
DOIs
Publication statusPublished - 2010

Fingerprint

somatic mutation
point mutation
Mitochondrial DNA
Point Mutation
genetic background
mitochondrial DNA
Aging of materials
Mutation
Hand Strength
mutation
leukocytes
Leukocytes
hands
Mortality
Genetic Background
Tissue
Population
sampling

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging : A GEHA study. / Rose, Giuseppina; Romeo, Giuseppe; Dato, Serena; Crocco, Paolina; Bruni, Amalia C.; Hervonen, Antti; Majamaa, Kari; Sevini, Federica; Franceschi, Claudio; Passarino, Giuseppe.

In: PLoS One, Vol. 5, No. 10, e13395, 2010.

Research output: Contribution to journalArticle

Rose, G, Romeo, G, Dato, S, Crocco, P, Bruni, AC, Hervonen, A, Majamaa, K, Sevini, F, Franceschi, C & Passarino, G 2010, 'Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: A GEHA study', PLoS One, vol. 5, no. 10, e13395. https://doi.org/10.1371/journal.pone.0013395
Rose, Giuseppina ; Romeo, Giuseppe ; Dato, Serena ; Crocco, Paolina ; Bruni, Amalia C. ; Hervonen, Antti ; Majamaa, Kari ; Sevini, Federica ; Franceschi, Claudio ; Passarino, Giuseppe. / Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging : A GEHA study. In: PLoS One. 2010 ; Vol. 5, No. 10.
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