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.

Cardaioli, E., Mignarri, A., Cantisani, T.A., Malandrini, A., Nesti, C., Rubegni, A., et al. (2018). Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 500(2), 158-162 [10.1016/j.bbrc.2018.04.009].

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene

Cardaioli, Elena;Mignarri, Andrea;Malandrini, Alessandro;Rubegni, Anna;Federico, Antonio;Dotti, Maria Teresa
2018-01-01

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.
Cardaioli, E., Mignarri, A., Cantisani, T.A., Malandrini, A., Nesti, C., Rubegni, A., et al. (2018). Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 500(2), 158-162 [10.1016/j.bbrc.2018.04.009].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1070004