Article
Molecular and clinical aspects of mitochondrial diabetes mellitus.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 2001
Maassen J A, van Essen E, van den Ouweland J M, Lemkes H H
Abstract excerpt
This review provides a compact overview on the contribution of mutations in mtDNA to the pathogenesis of diabetes mellitus, with emphasis on the A3243G mutation in the tRNA(Leu, UUR) gene. This mutation associates in most individuals with maternally inherited diabetes and deafness (MIDD) whereas in some other carriers the MELAS syndrome or a progressive kidney failure is seen. Possible pathogenic mechanisms are...
Topics
- Adenosine Triphosphate
- DNA, Mitochondrial
- Diabetes Mellitus
- Humans
- Mutation
- Phenotype
- RNA, Transfer, Leu