Heteroplasmy of the Human mtDNA Control Region Remains Constant during Life

In a longitudinal, retrospective study, we monitored the level of heteroplasmy at nucleotide position (nt) 309 and nt 16189 of the control region of human mtDNA. As a unique source of DNA, we analyzed multiple cervical-cell samples collected, during 1 or 2 decades, from four women with heteroplasmy...

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Bibliographic Details
Published in:American journal of human genetics 2001-05, Vol.68 (5), p.1299-1301
Main Authors: Lagerström-Fermér, Maria, Olsson, Charlotta, Forsgren, Lars, Syvänen, Ann-Christine
Format: Article
Language:English
Subjects:
Autopsy
Biological and medical sciences
Cervix Uteri - cytology
Cervix Uteri - metabolism
DNA Mutational Analysis
DNA, Mitochondrial - genetics
Female
General aspects. Genetic counseling
Humans
Longitudinal Studies
Medical genetics
Medical sciences
Point Mutation - genetics
Regulatory Sequences, Nucleic Acid - genetics
Retrospective Studies
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Summary:In a longitudinal, retrospective study, we monitored the level of heteroplasmy at nucleotide position (nt) 309 and nt 16189 of the control region of human mtDNA. As a unique source of DNA, we analyzed multiple cervical-cell samples collected, during 1 or 2 decades, from four women with heteroplasmy at either nt 309 or nt 16189. According to accurate, quantitative analysis by solid-phase minisequencing, the level of heteroplasmy remained stable in the cervical-cell samples from all four women during the time studied. We also analyzed autopsy samples from several different tissues, all containing nt 309 in heteroplasmic form, of one of the women, who was deceased. On the basis of our results, heteroplasmy in the control region of mtDNA seems to be inherited and is not the result of somatic age-related accumulation.
ISSN:0002-9297
1537-6605
DOI:10.1086/320115