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

Journal Article · Fri Jun 15 04:00:00 EDT 2018 · Biochemical and Biophysical Research Communications

DOI:https://doi.org/10.1016/J.BBRC.2018.04.009· OSTI ID:23137121

Cardaioli, Elena; Mignarri, Andrea ^[1]; Cantisani, Teresa Anna ^[2]; Malandrini, Alessandro ^[1]; Nesti, Claudia; Rubegni, Anna ^[3]; Funel, Niccola ^[4]; Federico, Antonio ^[1]; Santorelli, Filippo Maria ^[3]; Dotti, Maria Teresa ^[1]

---

1. Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena (Italy)
2. Perugia Hospital, Neurophysiopathology Unit, Azienda Ospedaliera di Perugia, S. Andrea delle Fratte, 06156 Perugia (Italy)
3. Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa (Italy)
4. 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, Journal Name: Biochemical and Biophysical Research Communications Journal Issue: 2 Vol. 500; ISSN 0006-291X; ISSN BBRCA9
• Country of Publication: United States
• Language: English

Related Subjects

60 APPLIED LIFE SCIENCES
EPILEPSY
GENES
MITOCHONDRIA
NUCLEOTIDES
WOMEN