Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene
- Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena (Italy)
- Perugia Hospital, Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, 06156 Perugia (Italy)
- Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa (Italy)
- Department of Translational Research & The New Technologies in Medicine & Surgery, University of Pisa, Via Paradisa 2, 56124, Pisa (Italy)
Highlights: • Sequencing the mtDNA from a woman with mitochondrial encephalomyopathy. • Patient showing a novel heteroplasmic mutation at nucleotide 5513 in the RNA{sup Trp}. • 17° mutation in MT-TW gene expanding the known causes of mitochondrial disease. We sequenced the mitochondrial genome from a 40-year-old woman with myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications. Histological and biochemical features of mitochondrial respiratory chain dysfunction were present. Direct sequencing showed a novel heteroplasmic mutation at nucleotide 5513 in the MT-TW gene that encodes tRNA{sup Trp}. Restriction Fragment Length Polymorphism analysis confirmed that about 80% of muscle mtDNA harboured the mutation while it was present in minor percentages in mtDNA from other tissues. The mutation is predicted to disrupt a highly conserved base pair within the aminoacyl acceptor stem of the tRNA. This is the 17° mutation in MT-TW gene and expands the known causes of late-onset mitochondrial diseases.
- OSTI ID:
- 23137121
- Journal Information:
- Biochemical and Biophysical Research Communications, Vol. 500, Issue 2; Other Information: Copyright (c) 2018 Elsevier Inc. All rights reserved.; Country of input: International Atomic Energy Agency (IAEA); ISSN 0006-291X
- Country of Publication:
- United States
- Language:
- English
Similar Records
Distribution and threshold expression of the tRNA[sup Lys] mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
Platelet-mediated transformation of mtDNA-less human cells: Analysis of phenotypic variability among clones from normal individuals-and complementation behavior of the tRNA[sup Lys] mutation causing myoclonic epilepsy and ragged red fibers