Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy

Ramelli, Gian Paolo; Gallati, Sabina; Weis, Joachim; Krähenbühl, Stephan; Burgunder, Jean-Marc (2006). Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy. Journal of child neurology, 21(3), pp. 253-5. Hamilton, Ontario: Decker 10.2310/7010.2006.00047

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We report on a family with a 12-year-old boy who suffered from a maternally inherited syndrome characterized by a combination of sensorineural hearing loss, myoclonus epilepsy, ataxia, severe psychomotor retardation, short stature, and diabetes mellitus. First, he showed a muscular hypotonia with hearing loss; later, he developed a myoclonus epilepsy, growth failure, and severe psychomotor retardation. At the age of 10 years, he developed diabetes mellitus. After initiation of combined ubiquinone and vitamin C treatment, we observed a progression in psychomotor development. Lactate and pyruvate levels in blood and cerebrospinal fluid were normal. No ragged red fibers or ultrastructural abnormalities were seen in a skeletal muscle biopsy. Biochemical assays of respiratory chain complex activities revealed decreased activity of complexes I and IV. By sequence analysis of mitochondrial DNA encoding transfer ribonucleic acids (RNAs), a homoplasmic T to C substitution at nucleotide position 7512 was found affecting a highly conserved base pair in the tRNA(ser(UCN)) acceptor stem. Asymptomatic family members of the maternal line were heteroplasmic for the mutation in blood samples. Analysis of mitochondrial DNA in patients with hearing loss and myoclonus epilepsy is recommended, even in the absence of laboratory findings. Therapeutically, ubiquinone and antioxidants can be beneficial.

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Journal Article (Further Contribution)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Gallati, Sabina and Burgunder, Jean-Marc










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Date Deposited:

04 Oct 2013 14:50

Last Modified:

06 Dec 2013 13:43

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https://boris.unibe.ch/id/eprint/20935 (FactScience: 4733)

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