Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene

K D Gerbitz; A Paprotta; M Jaksch; S Zierz; J Drechsel

doi:10.1016/0014-5793(93)80106-5

Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene

FEBS Lett. 1993 Apr 26;321(2-3):194-6. doi: 10.1016/0014-5793(93)80106-5.

Authors

K D Gerbitz¹, A Paprotta, M Jaksch, S Zierz, J Drechsel

Affiliation

¹ Institute für Klinische Chemie und Diabetesforschung, Städt. Krankenhaus München-Schwabing, Germany.

PMID: 8477849
DOI: 10.1016/0014-5793(93)80106-5

Abstract

A heteroplasmic point mutation (transition A-to-G at nucleotide position 3,243 in the mitochondrial tRNALeu(UUR) gene) is found in a family suffering from a syndrome with diabetes, deafness and cardiomyopathy as the predominant clinical features.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Blotting, Southern
Cardiomyopathies / genetics
Child
DNA, Mitochondrial / genetics*
Deafness / genetics
Diabetes Mellitus / genetics*
Diabetes Mellitus, Type 1 / genetics
Diabetes Mellitus, Type 2 / genetics
Female
Genes
Humans
Male
Pedigree
Phenotype
Point Mutation*
Polymerase Chain Reaction / methods
RNA, Transfer, Leu / genetics*
Restriction Mapping
Syndrome

Substances

DNA, Mitochondrial
RNA, Transfer, Leu