MELAS: clinical features, muscle biopsy and molecular genetics

Arquivos de Neuro-Psiquiatria

Paulo José Lorenzoni²  Rosana H. Scola²  Cláudia S. Kamoi Kay²  Raquel C. Arndt²  Aline A. Freund²  Isac Bruck¹  Mara Lúcia S.f. Santos¹  Lineu C. Werneck² 

[1] ,Universidade Federal do Paraná Internal Medicine Department Curitiba PR ,Brazil

关键词: MELAS;    mitochondrial myopathies;    biopsy;    mitochondrial DNA;    genetics;    MELAS;    miopatias mitocondriais;    biópsia;    DNA mitocondrial;    genética;   

DOI  :  10.1590/S0004-282X2009000400018

来源: SciELO

【 摘 要 】

OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA Leu(UUR) gene should not be the only diagnostic criteria for MELAS.

【 授权许可】

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