Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus.
Mitochondrial DNA from a 38 year old male with diabetes mellitus and features of mitochondrial dysfunction was analysed and shown to include a population with a partial duplication. The partially duplicated mitochondrial DNA molecules were evident in both muscle and blood. The region of mitochondrial DNA duplicated includes the origin of heavy strand replication, but not the light strand origin. This patient has features in common with other cases of partial direct tandem duplications and with a family which was reported to harbour a 10.4 kb mtDNA deletion. Initial restriction enzyme analysis of our case produced results consistent with a partial deletion of mitochondrial DNA. This leads us to propose that the rarity of reports of partial mitochondrial DNA duplications may stem in part from the classification of such mutants as partial deletions.
Dunbar
D R
DR
University Department of Biochemical Medicine, Ninewells Hospital and Medical School, Dundee, UK.
Moonie
P A
PA
Swingler
R J
RJ
Davidson
D
D
Roberts
R
R
Holt
I J
IJ
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics*; D005111:Extrachromosomal Inheritance; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D005810:Multigene Family; D009132:Muscles / Q000473:pathology; D017384:Sequence Deletion
D004272:DNA, Mitochondrial