IRCCS Istituto Auxologico Italiano, Department of Neurology and Laboratory of Neuroscience, Milan, Italy.
Cell Death Dis. 2013 Aug 15;4(8):e772. doi: 10.1038/cddis.2013.300.
B-cell lymphoma 2 (Bcl-2) family proteins regulate survival, mitochondria morphology dynamics and metabolism in many cell types including neurons. Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded CAG repeat tract in the IT15 gene that encodes for the protein huntingtin (htt). In vitro and in vivo models of HD and HD patients' tissues show abnormal mitochondrial function and increased cell death rates associated with alterations in Bcl-2 family protein expression and localization. This review aims to draw together the information related to Bcl-2 family protein alterations in HD to decipher their potential role in mutated htt-related cell death and mitochondrial dysfunction.
B 细胞淋巴瘤 2（Bcl-2）家族蛋白在多种细胞类型中调节生存、线粒体形态动力学和代谢，包括神经元。亨廷顿病（HD）是一种神经退行性疾病，由 IT15 基因中编码 huntingtin（htt）的 CAG 重复序列片段扩展引起。HD 的体外和体内模型以及 HD 患者组织显示出异常的线粒体功能和增加的细胞死亡率，与 Bcl-2 家族蛋白表达和定位的改变有关。本综述旨在汇集与 HD 中 Bcl-2 家族蛋白改变相关的信息，以破译它们在突变的 htt 相关细胞死亡和线粒体功能障碍中的潜在作用。
