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Molecular basis of spinocerebellar ataxias subtype caused by nucleotide repeat expansion in noncoding region / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 293-296, 2008.
Artigo em Chinês | WPRIM | ID: wpr-229770
ABSTRACT
Hereditary spinocerebellar ataxias(SCA) are mainly caused by trinucleotide (CAG/CAA) repeat expansion in open reading frames of corresponding gene. However, SCA8, SCA10 and SCA12 are caused by nucleotide repeat expansion in noncoding region. Recent researches focus on the pathogenesis and hereditary traits, including the instability of nucleotide repeat, the alteration of penetrance, the bias of gender inheritance and the anticipation. The pathogenesis of these three SCA subtypes is different from other subtypes because the repeat expansion in noncoding region has mild influence on translation of polyQ protein. We suggest that the interference on DNA transcription by the abnormal nucleotide expansion, the post-transcriptional toxic effect of abnormal RNA, and the mechanism of bidirectional expression of repeat expansion transcripts play a critical role on SCA8, SCA10 and SCA12 pathogenesis.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Expansão das Repetições de Trinucleotídeos / Ataxias Espinocerebelares / Genética / Modelos Biológicos Limite: Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2008 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Expansão das Repetições de Trinucleotídeos / Ataxias Espinocerebelares / Genética / Modelos Biológicos Limite: Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2008 Tipo de documento: Artigo