1. The link between mitochondrial DNA hypervariable segment I heteroplasmy and ageing among genetically unrelated Latvians
- Author
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Viesturs Baumanis, Astrida Krumina, Andis Brakmanis, Didzis Elferts, Liana Pliss, Renate Ranka, Latvian Biomedical Research and Study Centre [Rīga], Riga Stradins University (RSU), Faculty of Biology, and University of Latvia (LU)
- Subjects
Adult ,Male ,Mitochondrial DNA ,Aging ,Adolescent ,Biology ,Biochemistry ,DNA, Mitochondrial ,Broad spectrum ,Young Adult ,Endocrinology ,Latvians ,Genetics ,Humans ,Mutation detection ,heteroplasmy ,detection of mtDNA heteroplasmy ,Molecular Biology ,Aged ,Aged, 80 and over ,Denaturing Gradient Gel Electrophoresis ,mtDNA ,[SDV.MHEP.GEG]Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontology ,Cell Biology ,Sequence Analysis, DNA ,Middle Aged ,Latvia ,Heteroplasmy ,Ageing ,ageing ,Mutation ,Female ,Human mitochondrial DNA haplogroup - Abstract
International audience; Various studies have demonstrated that mitochondrial DNA (mtDNA) heteroplasmy tends to increase with age and that the observed frequency of heteroplasmy among populations mostly depends on the way it is measured. Therefore, we investigated age-related association on the presence of mtDNA heteroplasmy within the hypervariable segment 1 (HVS-I) in a selected study group. The study group consisted of 300 maternally unrelated Latvians ranging in age from 18 to over 90years. To determine the optimal method for mtDNA heteroplasmy detection, three approaches were used: (i) SURVEYORTM Mutation Detection Kit, (ii) sequencing and (iii) denaturing gradient-gel electrophoresis (DGGE). Among the studied individuals, 30.3% were found to be heteroplasmic. The distribution of heteroplasmy statistically significantly increased with individuals' age (17%; 95% confidence interval [CI] 0.095-0.244 in the 18-40year age group vs. 39%; [CI] 0.294-0.487 in the>90year age group). Heteroplasmy occurred in a total of 21 different positions within HVS-I, and was the most frequent at fast-mutated positions 16189, 16304 and 16311. The results indicate that heteroplasmy in HVS-I is relatively common and occurs in a broad spectrum of sites. The above is supported by evidence to eventual increase of the probability of heteroplasmy with age due to specific mitochondrial haplogroup background.
- Published
- 2011
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