Abstract
We have in a longitudinal study determined the proportion of the mitochondrial A3243G mutation in DNA obtained from cervical cell samples collected from three individuals affected with mitochondrial diabetes and hearing loss during a period of up to 18 years. Using the minisequencing method we were able to sensitively determine the proportion between mutant and normal mitochondrial DNA. Our results demonstrate a constant decrease in the levels of the pathogenic mutation in mitotic tissues of affected individuals with time.
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Acknowledgements
Informed consent to retrieve the cervical smear samples from pathology departments was obtained from the patients. We thank the pathology departments in Falun and Uppsala for the cervical smears and especially Margit Gustavsson at the pathology department in Uppsala, Ulf Landegren for helpful discussions and Agnetha Josefsson for advice on the DNA extraction procedure. The study was supported by a grant from the Swedish Medical Research Council (MFR). M Nilsson was supported by the Beijer Foundation and the Foundation for Medical Research in Uppsala. Approval for this study had been obtained from the Human Ethics Committee of the Medical Faculty of Uppsala University.
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Olsson, C., Johnsen, E., Nilsson, M. et al. The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. Eur J Hum Genet 9, 917–921 (2001). https://doi.org/10.1038/sj.ejhg.5200742
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DOI: https://doi.org/10.1038/sj.ejhg.5200742
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