Ataxias espinocerebelares causadas por expansão de poliglutamina
uma revisão
DOI:
https://doi.org/10.34024/rnc.2010.v18.8441Palavras-chave:
Ataxia Cerebelar, Cerebelo, Genética, Glutamina, Repetições de TrinucleotídeosResumo
Introdução. As ataxias espinocerebelares dominantes (SCAs), do inglês spinocerebellar ataxia, são um complexo grupo de doenças neurodegenerativas que afetam o cerebelo e suas principais conexões. O início das SCAs ocorre geralmente na vida adulta, apresentando grande heterogeneidade clínica. Os sintomas normalmente aparecem da terceira a quarta década de vida com progressão lenta. Objetivo. Revisar as SCAs em seus aspectos clínicos, epidemiológicos e moleculares, da principal categoria de ataxias: ataxias espinocerebelares por expansão de poliglutamina na proteína que leva à doença, causada pelo aumento do número de repetições do trinucleotídeo CAG na região codificante dos genes envolvidos. Método. Estudo de revisão bibliográfica nas bases de dados Medline e PubMed. Resultados. Recentemente, muito foi descoberto sobre as SCAs, com um aumento substancial no número de loci envolvidos. É estimado que os testes genéticos levem à identificação do gene mutado em muitos casos de ataxia. Os mecanismos patogênicos destas desordens envolvem, basicamente, perda ou ganho de função das proteínas envolvidas. Conclusão. Nosso conhecimento dos mescanismos moleculares das SCAs está crescendo rapidamente, e as importantes pesquisas trazem esperança para efetivas terapias em humanos.
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