Point Mutation tRNASer(UCN) in a Child With Hearing Loss and Myoclonus Epilepsy
| العنوان: | Point Mutation tRNASer(UCN) in a Child With Hearing Loss and Myoclonus Epilepsy |
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| المؤلفون: | Gian Paolo Ramelli, Joachim Weis, Sabina Gallati, Jean-Marc Burgunder, Stephan Krähenbühl |
| المصدر: | Journal of Child Neurology. 21:253-255 |
| بيانات النشر: | SAGE Publications, 2006. |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | Genetics, medicine.medical_specialty, Ataxia, Muscular hypotonia, Hearing loss, Point mutation, Respiratory chain complex, Biology, medicine.disease, Short stature, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, 030225 pediatrics, Internal medicine, Diabetes mellitus, Pediatrics, Perinatology and Child Health, medicine, Sensorineural hearing loss, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery |
| الوصف: | 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 tRNAser(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. ( J Child Neurol 2006;21:253—255; DOI 10.2310/7010.2006.00047). |
| تدمد: | 1708-8283 0883-0738 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::9b44ba3cfb4bba5311348c149659ee76Test https://doi.org/10.2310/7010.2006.00047Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........9b44ba3cfb4bba5311348c149659ee76 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17088283 08830738 |
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