A Novel Heteroplasmic tRNA(Ser(UCN)) mtDNA Point Mutation Associated With Progressive Ophthalmoplegia and Dysphagia

作者：Souilem Sihem^*; Kefi Mounir; Mancuso Michelangelo; Nesti Claudia; Hentati Faycal; Amouri Rim

来源：Diagnostic Molecular Pathology, 2010, 19(1): 28-32.

DOI：10.1097/PDM.0b013e3181b00f02

• PEO
• tRNA(Ser(UCN))
• mitochondrial DNA

We report a novel heteroplasmic mitochondrial DNA mutation in the tRNA(Ser(UCN)) gene at nucleotide 7458 (m.7458G>A) in a 26-year-old patient affected with sporadic progressive external ophthalmoplegia associated with dysphagia. Muscle biopsy showed a strong succinate dehydrogenase staining, ragged red fibers, and 15% of cytochrome c oxidase-negative fibers. Activities of mitochondrial respiratory chain complexes I+III and IV were reduced. The mutation was heteroplasmic (75%) in the muscle, but undetectable in accessible tissues from the patient and his maternal relatives. This report expands the molecular heterogeneity of progressive external ophthalmoplegia.

• 出版日期2010-3