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Subject: [DNA] PubMed abstract: inheritance of mtDNA heteroplasmy
Date: Sat, 1 Sep 2007 09:11:15 EDT

BMC Genomics. 2007 Aug 29;8(1):293 [Epub ahead of print]

The mitochondrial DNA control region shows genetically correlated levels of
heteroplasmy in leukocytes of centenarians and their offspring.

Rose G, Passarino G, Scornaienchi V, Romeo G, Dato S, Bellizzi D, Mari V,
Feraco E, Maletta R, Bruni A, Franceschi C, De Benedictis G.

ABSTRACT: BACKGROUND: Studies on heteroplasmy occurring in the mitochondrial
DNA (mtDNA) control region (CR) in leukocytes of centenarians and younger
subjects have shown that the C150T somatic transition is over-represented in
centenarians. However, whether the occurrence/accumulation of heteroplasmy is a
phenotypic consequence of extreme ageing or a genetically controlled event that
may favor longevity is a question that deserves further attention. To clarify
this point, we set up a Denaturing High Performance Liquid Chromatography
(DHPLC) protocol to quantify mtDNA CR heteroplasmy. We then analyzed heteroplasmy
in leukocytes of centenarians (100 subjects), their offspring and
nieces/nephews (200 subjects, age-range 65-80 years, median age 70 years), and in
leukocytes of 114 control subjects sex- and age-matched with the relatives of
centenarians. RESULTS: The centenarians and their descendants, despite the different
ages, showed similar levels of heteroplasmy which were significantly higher than
levels in controls. In addition we found that heteroplasmy levels are
significantly correlated in parent-offspring pairs (r=0.263; p=0.009), while it
turned out to be independent of mtDNA inherited variability (haplogroup and
sequence analyses). CONCLUSIONS: Our findings suggest that the high degree of
heteroplasmy observed in centenarians is genetically controlled, and that such
genetic control is independent of mtDNA variability and is likely due to the nuclear
genome.

PMID: 17727699 [PubMed - as supplied by publisher]



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