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Biochem Biophys Res Commun. 2018 Jun 2;500(2):158-162. doi: 10.1016/j.bbrc.2018.04.009. Epub 2018 Apr 13.

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

Author information

1
Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena, Italy. Electronic address: cardaioli@unisi.it.
2
Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
3
Perugia Hospital, Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, 06156 Perugia, Italy.
4
Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy.
5
Department of Translational Research & The New Technologies in Medicine & Surgery, University of Pisa, Via Paradisa 2, 56124, Pisa, Italy.

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.

KEYWORDS:

MT-TW gene; Mitochondrial disease; New mutation; mtDNA; tRNA(Trp)

PMID:
29625105
DOI:
10.1016/j.bbrc.2018.04.009
[Indexed for MEDLINE]

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