Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy |
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Authors: | Massoud Houshmand Nils-Göran Larsson Elisabeth Holme Anders Oldfors Már H Tulinius Oluf Andersen |
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Institution: | 1. Department of Clinical Chemistry, Gothenburg University, Sahlgren''s Hospital, Gothenburg, Sweden;2. Department of Pathology, Gothenburg University, Sahlgren''s Hospital, S-41345 Gothenburg, Sweden;3. Department of Neurology, Gothenburg University, Sahlgren''s Hospital, S-41345 Gothenburg, Sweden;4. Department of Pediatrics, Gothenburg University, East Hospital, S-41685 Gothenburg, Sweden |
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Abstract: | We have investigated nine children with infantile onset of mitochondrial myopathy and two adults with myoclonus epilepsy and ragged-red fibers (MERRF) and chronic progressive external ophthalmoplegia (CPEO), respectively. These patients lacked any of the previously known pathogenic tRNA mutations. Southern blot analysis of muscle mtDNA revealed no deletions. The tRNA genes of muscle mtDNA were sequenced. Restriction enxyme analysis of PCR fragments was performed to verify the presence of the mutations identified by automatic sequencing. Several tRNA mutations were found, but they were all homoplasmic. Furthermore, the mutations were either present in controls or did not change nucleotides conserved between species. This strongly suggests that none of the tRNA mutations identified in the 11 patients with mitochondrial encephalomyopathy was pathogenic. It can thus be concluded that mitochondrial tRNA mutations and mtDNA deletions probably are an infrequent cause of mitochondrial disorders in infants. Patients with MERRF and CPEO may lack both pathogenic point mutations of tRNA genes and deletions of mtDNA. |
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Keywords: | Mitochondria mtDNA tRNA Myopathy encephalomyopathy |
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