论文部分内容阅读
Huntington’s disease (HD): HD is an autosomal dominant neurode-generative disease, caused by a CAG trinucleotide repeat expansion in the first exon of the HTT gene encoding the huntingtin protein. The mutant protein contains an expanded polyglutamine sequence that confers a toxic gain-of-function and causes neurodegeneration. More-over, several studies indicate that loss of the normal protein beneficial functions, contribute to the pathology (Schulte and Littleton 2011). Triplet expansion over 40 repeats are fully penetrant and invariably lead to manifest HD in the fourth or fifth decade of life.