| Title | Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. |
| Publication Type | Journal Article |
| Year of Publication | 1993 |
| Authors | Dunbar DR, Moonie PA, Swingler RJ, Davidson D, Roberts R, Holt IJ |
| Journal | Human molecular genetics |
| Volume | 2 |
| Issue | 10 |
| Pagination | 1619-24 |
| Date Published | 1993 Oct |
| ISSN | 0964-6906 |
| Keywords | Adult, Amino Acid Sequence, Base Sequence, Diabetes Complications, Diabetes Mellitus, DNA Mutational Analysis, DNA, Mitochondrial, Extrachromosomal Inheritance, Humans, Male, Mitochondrial Myopathies, Molecular Sequence Data, Multigene Family, Muscles, Sequence Deletion |
| Abstract | 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. |
| Alternate Journal | Hum. Mol. Genet. |
