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


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 mut

SUBMITTER: Rose G 

PROVIDER: S-EPMC2954809 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature