title: Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.
abstract: The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset among members of three families where the mutation segregates. A striking association was observed between the level of heteroplasmy and time of onset of disease, particularly hearing loss. Accordingly, this syndrome shares features of diseases caused by dynamic mutations in that variable transmission of the level of heteroplasmy between generations influences disease severity.
authors.affiliation: Department of Medical Genetics, University of Uppsala, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Olsson
authors.forename: B
authors.initials: B
authors.lastname: Zethelius
authors.forename: M
authors.initials: M
authors.lastname: Lagerström-Fermér
authors.forename: J
authors.initials: J
authors.lastname: Asplund
authors.forename: C
authors.initials: C
authors.lastname: Berne
authors.forename: U
authors.initials: U
authors.lastname: Landegren
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D015203:Reproducibility of Results
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial