Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
- 1 August 1992
- journal article
- case report
- Published by Springer Nature in Nature Genetics
- Vol. 1 (5) , 368-371
- https://doi.org/10.1038/ng0892-368
Abstract
Non-insulin-dependent (type II) diabetes mellitus (NIDDM) is characterized by hyperglycaemia and insulin resistance, and affects nearly 5% of the general population. Inherited factors are important for its development, but the genes involved are unknown. We have identified a large pedigree in which NIDDM, in combination with a sensorineural hearing loss, is maternally inherited. The maternal inheritance and the observed decrease in mitochondrial enzyme activities of the respiratory chain indicate a genetic defect in the mitochondrial DNA. An A to G transition was identified at nucleotide 3,243, a conserved position in the mitochondrial gene for tRNA(Leu)(UUR). This mutation cosegregates with the disease in this family and is absent in controls, and indicates that a point mutation in mitochondrial DNA is a pathogenetic factor for NIDDM.Keywords
This publication has 23 references indexed in Scilit:
- MELAS: Clinical features, biochemistry, and molecular geneticsAnnals of Neurology, 1992
- Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletionNature Genetics, 1992
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)Neurology, 1992
- Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (GLUT-4) in patients with common-type non-insulin-dependent diabetes mellitus.Journal of Clinical Investigation, 1991
- Mitochondrial leucine tRNA mutation in neurological diseasesThe Lancet, 1991
- A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesNature, 1990
- Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 1990
- Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic NeuropathyScience, 1988
- A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme QEuropean Journal of Pediatrics, 1986
- Sequence and organization of the human mitochondrial genomeNature, 1981