title: A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 tRNA(Leu (UUR))) applied to a Norwegian family with diabetes mellitus and hearing loss.
abstract: Blood cells of selected patients from a large Norwegian family with maternally transmitted diabetes mellitus, hearing loss and muscular dysfunction were screened for possible A3243G mutation tRNA(Leu (UUR)) in mitochondrial DNA. We selected 7 patients from 3 of the 4 generations of the family and 10 unrelated healthy control subjects for mutation analysis using denaturing gradient gel electrophoresis (DGGE) and both manual and automated DNA sequencing. The A3243G mutation was found in peripheral blood cells of all 7 patients, but in none of the controls. The mutation was in the form of heteroplasmy and the amount of mutant DNA was found to be between 10% and 35% of total mtDNA in individual patients. This is the first report of a Norwegian family with maternally inherited diabetes and hearing loss carrying the A3243G mutation in mitochondrial DNA.
authors.affiliation: Institute of Cancer Research and Molecular Biology, Regional Hospital Trondheim, Norwegian University of Science and Technology, Trondheim, Norway. Mansour.akbari@medisin.ntnu.no
authors.forename: M
authors.initials: M
authors.lastname: Akbari
authors.forename: C
authors.initials: C
authors.lastname: Skjelbred
authors.forename: I
authors.initials: I
authors.lastname: Følling
authors.forename: J
authors.initials: J
authors.lastname: Sagen
authors.forename: H E
authors.initials: HE
authors.lastname: Krokan
mesh_terms: D000409:Alanine / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D004272:DNA, Mitochondrial / Q000235:genetics*; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005820:Genetic Testing / Q000379:methods; D034381:Hearing Loss / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics; D009664:Norway; D009691:Nucleic Acid Denaturation; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu; D000409:Alanine