A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
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Summary
An A-to-G transition mutation at nucleotide pair 3,243 in the dihydrouridine loop of mitochondrial tRNALeu(UUR) that is specific to patients with MELAS is reported, which creates an Apal restriction site and could perform a simple molecular diagnostic test for the disease.
- Type
- article
- Published
- 1990-12-13
- Cited by
- 2,053
- References
- 22
- OpenAlex
- https://openalex.org/W2045409504
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4254805
Keywords
Mitochondrial Encephalomyopathies, Genetics, Mitochondrial DNA, Biology, Gene
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- Mitochondrial DNA Mutations and Pathogenesis
- Mitochondrial DNA and genetic disease
- Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.
- EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases.
- Early Parkinson’s Disease
- Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids.
- Mitochondrial DNA Is Required for Regulation of Glucose-stimulated Insulin Secretion in a Mouse Pancreatic Beta Cell Line, MIN6*
- Did de novo MELAS common mitochondrial DNA point mutation (mtDNA 3243, A-->G transition) occur in the mother of a proband of a Japanese MELAS pedigree?
- Down Syndrome: Neuropsychological phenotype and mitochondrial DNA
- Maternally transmitted susceptibility to non-insulin-dependent diabetes mellitus and left ventricular hypertrophy.
- Mitochondrial Disorders. A Diagnostic Challenge in Clinical Chemistry
- Intestinal pseudo‐obstruction and urinary retention: cardinal features of a mitochondrial DNA‐related disease
- Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA
- Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
- New options for drug treatment of obesity in patients with Type 2 diabetes
- Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
- Overproduction and purification ofEscherichia coli tRNALeu
- Gene cloning, expression and purification of human mitochondrial tRNALeu(UUR) and its mutant
- Sirtuins — novel therapeutic targets to treat age-associated diseases
- Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study
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