Arquivos de neuro-psiquiatria · 2009
MELAS: clinical features, muscle biopsy and molecular genetics.
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Lorenzoni Paulo José, Scola Rosana H, Kay Cláudia S Kamoi, Arndt Raquel C, Freund Aline A, Bruck Isac, Santos Mara Lúcia S F, Werneck Lineu C
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultBiopsyChildChild, PreschoolCreatine KinaseDNA, MitochondrialFemaleFructose-Bisphosphate AldolaseHumansLactatesMELAS SyndromeMagnetic Resonance ImagingMaleMuscle, SkeletalMutationPolymerase Chain ReactionPolymorphism, Restriction Fragment LengthRetrospective StudiesTomography, X-Ray ComputedYoung Adult