Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8292777 | Biochemical and Biophysical Research Communications | 2018 | 5 Pages |
Abstract
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 tRNATrp. 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.
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Authors
Elena Cardaioli, Andrea Mignarri, Teresa Anna Cantisani, Alessandro Malandrini, Claudia Nesti, Anna Rubegni, Niccola Funel, Antonio Federico, Filippo Maria Santorelli, Maria Teresa Dotti,