The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness
- 1 December 2001
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 9 (12) , 917-921
- https://doi.org/10.1038/sj.ejhg.5200742
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.Keywords
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