Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

Abstract

A 14-year-old boy had exercise intolerance, weakness, ataxia, and lactic acidosis. Because his muscle biopsy showed a mosaic pattern of fibers staining intensely with the succinate dehydrogenase reaction but not at all with the cytochrome c oxidase reaction, we sequenced his mitochondrial DNA and found a novel mutation (C14680A) in the gene for tRNAGlu. The mutation was present in accessible tissues from the asymptomatic mother but not from a brother with Asperger syndrome. These data expand the clinical heterogeneity of mutations in this mitochondrial gene.

• Authors: Jacklyn Pancrudo, Sara Shanske, Eduardo Bonilla, Mariza Daras, Hasan O Akman, Sindu Krishna, Elfrida Malkin, Salvatore DiMauro
• Journal: Journal of child neurology (J Child Neurol) Vol. 22 Issue 7 Pg. 858-62 (Jul 2007) ISSN: 0883-0738 [Print] United States
• PMID: 17715279 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Glu
• Electron Transport Complex IV

Topics

• Adolescent
• Cytochrome-c Oxidase Deficiency (genetics)
• DNA, Mitochondrial (genetics)
• Electron Transport Complex IV (metabolism)
• Humans
• Male
• Mitochondrial Encephalomyopathies (genetics, metabolism, pathology)
• Muscle, Skeletal (metabolism, pathology)
• Mutation
• Polymorphism, Single Nucleotide
• RNA, Transfer, Glu (genetics, metabolism)