Abstract
The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction—restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS.
Keywords: Mitochondrial encephalomyopathy
Keywords: MELAS syndrome
Keywords: mitochondrial mutation
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- Barkovich A. J., Good W. V., Koch T. K., Berg B. O. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol. 1993 Sep-Oct;14(5):1119–1137. [PMC free article] [PubMed] [Google Scholar]
- Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990 Dec 13;348(6302):651–653. doi: 10.1038/348651a0. [DOI] [PubMed] [Google Scholar]
- Hammans S. R., Sweeney M. G., Brockington M., Morgan-Hughes J. A., Harding A. E. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet. 1991 Jun 1;337(8753):1311–1313. doi: 10.1016/0140-6736(91)92981-7. [DOI] [PubMed] [Google Scholar]
- Huang C. C., Chen R. S., Chen C. M., Wang H. S., Lee C. C., Pang C. Y., Hsu H. S., Lee H. C., Wei Y. H. MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family. J Neurol Neurosurg Psychiatry. 1994 May;57(5):586–589. doi: 10.1136/jnnp.57.5.586. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lee M. L., Chaou W. T., Yang A. D., Jong Y. J., Tsai J. L., Pang C. Y., Wei Y. H. Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): report of a sporadic case and review of the literature. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994 Mar-Apr;35(2):148–156. [PubMed] [Google Scholar]
- Moraes C. T., Ricci E., Bonilla E., DiMauro S., Schon E. A. The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet. 1992 May;50(5):934–949. [PMC free article] [PubMed] [Google Scholar]
- Pavlakis S. G., Phillips P. C., DiMauro S., De Vivo D. C., Rowland L. P. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984 Oct;16(4):481–488. doi: 10.1002/ana.410160409. [DOI] [PubMed] [Google Scholar]
- Shoffner J. M., Wallace D. C. Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment. Annu Rev Nutr. 1994;14:535–568. doi: 10.1146/annurev.nu.14.070194.002535. [DOI] [PubMed] [Google Scholar]
- Stern H. J. Lactic acidosis in paediatrics: clinical and laboratory evaluation. Ann Clin Biochem. 1994 Sep;31(Pt 5):410–419. doi: 10.1177/000456329403100502. [DOI] [PubMed] [Google Scholar]