Laboratory for Structural Neuropathology, RIKEN Brain Science Institute, Wako-shi, Saitama, Japan.
Nat Biotechnol. 2010 Mar;28(3):256-63. doi: 10.1038/nbt.1608. Epub 2010 Feb 28.
Huntington's Disease (HD) is a dominantly inherited pathology caused by the accumulation of mutant huntingtin protein (HTT) containing an expanded polyglutamine (polyQ) tract. As the polyglutamine binding peptide 1 (QBP1) is known to bind an expanded polyQ tract but not the polyQ motif found in normal HTT, we selectively targeted mutant HTT for degradation by expressing a fusion molecule comprising two copies of QBP1 and copies of two different heat shock cognate protein 70 (HSC70)-binding motifs in cellular and mouse models of HD. Chaperone-mediated autophagy contributed to the specific degradation of mutant HTT in cultured cells expressing the construct. Intrastriatal delivery of a virus expressing the fusion molecule ameliorated the disease phenotype in the R6/2 mouse model of HD. Similar adaptor molecules comprising HSC70-binding motifs fused to an appropriate structure-specific binding agent(s) may have therapeutic potential for treating diseases caused by misfolded proteins other than those with expanded polyQ tracts.
亨廷顿病(HD)是一种显性遗传疾病,由突变亨廷顿蛋白(HTT)的积累引起,该蛋白含有扩展的聚谷氨酰胺(polyQ)序列。由于聚谷氨酰胺结合肽 1(QBP1)已知与扩展的 polyQ 序列结合,而不是与正常 HTT 中发现的 polyQ 基序结合,因此我们通过表达包含两个 QBP1 拷贝和两个不同热休克同源蛋白 70(HSC70)结合基序拷贝的融合分子,在 HD 的细胞和小鼠模型中选择性地靶向突变 HTT 进行降解。伴侣介导的自噬有助于培养细胞中表达构建体的突变 HTT 的特异性降解。在 R6/2 小鼠 HD 模型中,纹状体内递送表达融合分子的病毒改善了疾病表型。包含 HSC70 结合基序融合到适当结构特异性结合剂的类似衔接子分子可能具有治疗除具有扩展的 polyQ 序列之外的其他错误折叠蛋白引起的疾病的潜力。