RESUMO
PURPOSE: It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) mutations in young patients with cryptogenic strokes. METHOD: The mitochondrial mutations A3243G and T3271C were investigated in 38 subjects aged less than 46 years. Group 1: 15 patients with cryptogenic strokes; Group 2: 3 patients with diagnosis of MELAS syndrome, including stroke-like episodes; Group 3: 20 healthy subjects. RESULTS: The A3243G mutation was absent in all subjects in Groups 1 and 3 but was present in all subjects in Group 2. CONCLUSION: Our results do not support screening for these mutations to diagnose oligosymptomatic forms of MELAS in cryptogenic strokes in the absence of other features of the syndrome. We suggest that clinical findings should guide mitochondrial genetic testing.
Assuntos
DNA Mitocondrial/genética , Síndrome MELAS/genética , Mutação/genética , Acidente Vascular Cerebral/genética , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Programas de Rastreamento , Linhagem , Reação em Cadeia da PolimeraseRESUMO
PURPOSE: It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) mutations in young patients with cryptogenic strokes. METHOD: The mitochondrial mutations A3243G and T3271C were investigated in 38 subjects aged less than 46 years. Group 1: 15 patients with cryptogenic strokes; Group 2: 3 patients with diagnosis of MELAS syndrome, including stroke-like episodes; Group 3: 20 healthy subjects. RESULTS: The A3243G mutation was absent in all subjects in Groups 1 and 3 but was present in all subjects in Group 2. CONCLUSION: Our results do not support screening for these mutations to diagnose oligosymptomatic forms of MELAS in cryptogenic strokes in the absence of other features of the syndrome. We suggest that clinical findings should guide mitochondrial genetic testing.
PROPÓSITO: Foi sugerido que mitocondriopatias possam ser responsáveis por uma proporção substancial de acidentes vasculares cerebrais de etiologia indeterminada. Realizamos um estudo preliminar de pesquisa de mutações relacionadas à síndrome de MELAS (encefalomiopatia mitocondrial, acidose lática e episódios "stroke-like") em pacientes jovens com acidentes vasculares cerebrais criptogênicos. MÉTODO: As mutações mitocondriais A3243G e T3271C em 38 indivíduos com menos de 46 anos. Grupo 1: 15 pacientes com acidentes vasculares cerebrais criptogênicos; Grupo 2: 3 pacientes com diagnóstico de síndrome de MELAS, incluindo episódios "stroke-like"; Grupo 3: 20 voluntários saudáveis. RESULTADOS: A mutação A3243G esteve ausente em todos os indivíduos dos Grupos 1 e 3 mas esteve presente em todos os indivíduos do Grupo 2. CONCLUSÃO: Nossos resultados sugerem que não há utilidade em pesquisar estas mutações para diagnosticar formas oligossintomáticas de MELAS em acidentes vasculares cerebrais criptogênicos na ausência de características da síndrome. Sugerimos que o quadro clínico deva guiar a solicitação de pesquisas de mutações relacionadas a mitocondriopatias nestes pacientes.