Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN) gene
- 8 October 1998
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 44 (4) , 635-640
- https://doi.org/10.1002/ana.410440409
Abstract
We report seven unrelated families with mitochondrial tRNASer(UCN) gene mutations at three different loci. A novel G7497A mutation is found in two families, both of which present with progressive myopathy, ragged‐red fibers, lactic acidosis, and deficiency of repiratory chain complexes I and IV. This mutation presumably affects the tertiary tRNASer(UCN) dihydrouridine interaction. Mutations 7472 insC and T7512C, found in three and two families, respectively, are associated with myoclonus epilepsy, deafness, ataxia, cognitive impairment, and complex IV deficiency. No ragged‐red fibers or ultrastructural abnormalities are seen. It is interesting that 6 of our 7 index patients are apparently homoplasmic, indicating a minor pathogenetic power of the tRNASer(UCN) mutations.Keywords
This publication has 19 references indexed in Scilit:
- Wolfram (DIDMOAD) Syndrome and Leber Hereditary Optic Neuropathy (LHON) Are Associated with Distinct Mitochondrial DNA HaplotypesGenomics, 1997
- Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysisClinical Biochemistry, 1995
- A Novel Point Mutation in the Mitochondrial tRNASer(UCN) Gene Detected in a Family with MERRF/MELAS Overlap SyndromeBiochemical and Biophysical Research Communications, 1995
- Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) geneHuman Molecular Genetics, 1995
- A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafnessHuman Mutation, 1994
- A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesNature, 1990
- Classification of progressive myoclonus epilepsies and related disordersAnnals of Neurology, 1990
- Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 1990
- Sequence and organization of the human mitochondrial genomeNature, 1981
- Transfer RNA: Molecular Structure, Sequence, and PropertiesAnnual Review of Biochemistry, 1976