title: The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness.
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.
authors.affiliation: Molecular Medicine, Department of Medical Sciences, Uppsala University, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Olsson
authors.forename: E
authors.initials: E
authors.lastname: Johnsen
authors.forename: M
authors.initials: M
authors.lastname: Nilsson
authors.forename: E
authors.initials: E
authors.lastname: Wilander
authors.forename: A C
authors.initials: AC
authors.lastname: Syvänen
authors.forename: M
authors.initials: M
authors.lastname: Lagerström-Fermér
mesh_terms: D000328:Adult; D000368:Aged; D000375:Aging / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000503:physiopathology; D004847:Epithelial Cells / Q000502:physiology / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: D004272:DNA, Mitochondrial