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.
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April 2003
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Conference Article|
April 01 2003
A study of mitochondrial DNA mutations in peripheral lymphocytes in an aging cohort
B. Zhang;
B. Zhang
1
*Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.
1To whom correspondence should be addressed (e-mail bz@soton.ac.uu).
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S. Ye;
S. Ye
*Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.
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A.A. Sayer;
A.A. Sayer
†MRC Environmental Epidemiology Unit, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, U.K.
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S.R. Hammans;
S.R. Hammans
‡Wessex Neurological Centre, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.
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S. Adio;
S. Adio
*Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.
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L.J. Hinks;
L.J. Hinks
*Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.
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P.J. Smythe;
P.J. Smythe
*Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.
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D. Groot;
D. Groot
*Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.
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C. Cooper;
C. Cooper
†MRC Environmental Epidemiology Unit, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, U.K.
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I.N.M. Day
I.N.M. Day
*Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.
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Publisher: Portland Press Ltd
Online ISSN: 1470-8752
Print ISSN: 0300-5127
Copyright 2003 Biochemical Society
2003
Biochem Soc Trans (2003) 31 (2): 444–446.
Citation
B. Zhang, S. Ye, A.A. Sayer, S.R. Hammans, S. Adio, L.J. Hinks, P.J. Smythe, D. Groot, C. Cooper, I.N.M. Day; A study of mitochondrial DNA mutations in peripheral lymphocytes in an aging cohort. Biochem Soc Trans 1 April 2003; 31 (2): 444–446. doi: https://doi.org/10.1042/bst0310444
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