Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Somatic mutation in the mitochondrial genome occurs much more rapidly than in the nuclear genome and is a feature, possibly contributory, of the aging of cells and tissues. Identifying mitochondrial sequence changes in blood DNA of elderly subjects may provide a maker for the epigenetic changes of mitochondrial DNA known to occur in tissues with lower cellular turnover, and would also have implications for immunosenescence. No large-scale epidemiological studies have been reported previously. In this study we have established long-PCR banks of the mitochondrial genome from peripheral lymphocytes for an elderly cohort of 716 individuals with a range of measured aging phenotypes, and we have established assays for three widely reported mutations: the 4977 bp and 8048 bp deletions and point mutation A3243G. No individuals were identified with detectable heteroplasmy for these changes. Implications for tissue and population prevalence are discussed. The mitochondrial long-PCR DNA banks established will be useful for a wide range of studies of somatic mutation and of germline haplotypes in relation to aging.

Original publication

DOI

10.1042/bst0310444

Type

Journal article

Journal

Biochemical Society transactions

Publication Date

04/2003

Volume

31

Pages

444 - 446

Addresses

Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K. bz@soton.ac.uk

Keywords

Lymphocytes, Humans, DNA, Mitochondrial, Cohort Studies, DNA Mutational Analysis, Aging, Phenotype, Mutation, Databases, Nucleic Acid, Aged, England, Female, Male