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

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  • Giuseppina Rose, Department of Cell Biology, University of Calabria, Italien
  • Giuseppe Romeo, Department of Cell Biology, University of Calabria, Italien
  • Serena Dato, Department of Cell Biology, University of Calabria, Italien
  • Paolina Crocco, Department of Cell Biology, University of Calabria, Italien
  • Amalia C Bruni, Regional Center for NeuroGenetics, Italien
  • Antti Hervonen, Laboratory of Gerontology, Tampere School of Public Health, Italien
  • Kari Majamaa, Department of Neurology, University of Oulu, Italien
  • Federica Sevini, Interdepartmental Centre ‘‘Luigi Galvani’’ (CIG), University of Bologna, Italien
  • Claudio Franceschi, Interdepartmental Centre ‘‘Luigi Galvani’’ (CIG), University of Bologna, Italien
  • Giuseppe Passarino, Department of Cell Biology, University of Calabria, Italien
  • GEnetics of Healthy Ageing Project Consortium
  • ,
  • Peter Kristensen, Danmark
  • Lars Bolund
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.
OriginalsprogEngelsk
TidsskriftP L o S One
Vol/bind5
Nummer10
Sider (fra-til)e13395
Antal sider8
ISSN1932-6203
DOI
StatusUdgivet - 14 okt. 2010

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