Wang Guohao, Liu Xudong, Gaertig Marta A, Li Shihua, Li Xiao-Jiang
State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322; University of Chinese Academy of Sciences, Beijing 100049, China.
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322;
Proc Natl Acad Sci U S A. 2016 Mar 22;113(12):3359-64. doi: 10.1073/pnas.1524575113. Epub 2016 Mar 7.
The Huntington's disease (HD) protein, huntingtin (HTT), is essential for early development. Because suppressing the expression of mutant HTT is an important approach to treat the disease, we must first understand the normal function of Htt in adults versus younger animals. Using inducible Htt knockout mice, we found that Htt depletion does not lead to adult neurodegeneration or animal death at >4 mo of age, which was also verified by selectively depleting Htt in neurons. On the other hand, young Htt KO mice die at 2 mo of age of acute pancreatitis due to the degeneration of pancreatic acinar cells. Importantly, Htt interacts with the trypsin inhibitor, serine protease inhibitor Kazal-type 3 (Spink3), to inhibit activation of digestive enzymes in acinar cells in young mice, and transgenic HTT can rescue the early death of Htt KO mice. These findings point out age- and cell type-dependent vital functions of Htt and the safety of knocking down neuronal Htt expression in adult brains as a treatment.
亨廷顿舞蹈病(HD)蛋白亨廷素(HTT)对早期发育至关重要。由于抑制突变型HTT的表达是治疗该疾病的重要方法,我们必须首先了解Htt在成年动物与幼年动物中的正常功能。利用可诱导的Htt基因敲除小鼠,我们发现Htt缺失不会导致4个月龄以上的成年动物发生神经变性或死亡,这一点也通过在神经元中选择性敲除Htt得到了验证。另一方面,年轻的Htt基因敲除小鼠在2个月龄时因胰腺腺泡细胞变性而死于急性胰腺炎。重要的是,Htt与胰蛋白酶抑制剂、Kazal型丝氨酸蛋白酶抑制剂3(Spink3)相互作用,以抑制幼鼠腺泡细胞中消化酶的激活,并且转基因HTT可以挽救Htt基因敲除小鼠的早期死亡。这些发现指出了Htt在年龄和细胞类型上依赖的重要功能,以及在成年大脑中敲低神经元Htt表达作为一种治疗方法的安全性。