Alterações genéticas no DNA mitocondrial e genótipos GSTM1/GSTT1 em portadores de oftalmoplegia externa crônica progressiva
Palavras-chave:
Doença Mitocondrial, Miopatia, MutaçõesResumo
A oftalmoplegia externa crônica progressiva (OECP) é uma doença mitocondrial associada a clínicas como ptose, fraqueza muscular proximal e disfagia progressiva. Nosso trabalho objetivou determinar alterações genéticas e marcadores laboratoriais do DNAmt em uma família de pacientes portadores da OECP. Um total de 5 pacientes e 27 voluntários da mesma família participaram do estudo. Alterações no DNAmt foram investigadas por sequenciamento gênico de Sanger e os genótipos para GST por PCR multiplex. Sete mutações pontuais no DNAmt foram demonstradas em 3 pacientes e em 1 familiar. O genótipo GSTM1 nulo foi demonstrado em 14 familiares e em 2 pacientes, enquanto o genótipo GSTT1 nulo em 1 familiar. Novas mutações relacionadas a OECP foram encontradas que podem melhorar o acompanhamento e tratamento dos pacientes, além de contribuir para o estabelecimento de subfenótipos específicos desta doença. Cumpre ressaltar que este foi o primeiro trabalho na literatura que discorre sobre provável correlação dos genótipos da GST com a gravidade clínica em pacientes diagnosticados com a doença mitocondrial OECP.
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