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[A family with MELAS whose main manifestations are maternally-transmitted deafness and diabetes mellitus]
N Sasagasako1, N Shida, T Yoshimura
1Department of Neurology, Faculty of Medicine, Kuyshu University.
Abstract:
A family with maternally-transmitted deafness and diabetes mellitus is described. Although the proband clinically exhibited MELAS-like symptoms such as sudden-onset cerebellar ataxia and weakness of the proximal portion of the limbs in addition to deafness and diabetes mellitus, the other three members of the family had only deafness and diabetes mellitus and no neurological manifestations. The analysis of mitochondrial DNA of the two members revealed an A-->G mutation of tRNA(leu(UUR)), a mutation commonly seen in patients with MELAS. According to the clinical histories and endocrinological investigations, the type of the diabetes mellitus in this family was considered to be IDDM, which may be attributed to the dysfunction of mitochondrial of the pancreas islet cells, resulting from the mutation of the mitochondrial DNA.
Insights
Mitochondrial DNA mutation causes maternally inherited deafness and diabetes mellitus. This mutation, commonly seen in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes), affects pancreatic islet cells, leading to Type 1 diabetes.
Area of Science:
- Genetics
- Neurology
- Endocrinology
Background:
- Mitochondrial disorders can present with diverse clinical manifestations.
- Maternally inherited conditions often involve mitochondrial DNA (mtDNA) mutations.
- Deafness and diabetes mellitus are known, albeit less common, symptoms associated with certain mitochondrial diseases.