Jian Jinlong, Hettinghouse Aubryanna, Liu Chuan-Ju
Department of Orthopaedic Surgery, New York University Medical Center, New York, NY, 10003, USA.
Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA.
Genes Dis. 2017 Sep;4(3):125-126. doi: 10.1016/j.gendis.2017.05.001. Epub 2017 Jun 23.
Multifunctional factor progranulin (PGRN) plays an important role in lysosomes, and its mutations and insufficiency are associated with lysosomal storage diseases, including neuronal ceroid lipofuscinosis and Gaucher disease (GD). The first breakthrough in understanding the molecular mechanisms of PGRN as regulator of lysosomal storage diseases came unexpectedly while investigating the role of PGRN in inflammation. Challenged PGRN null mice displayed typical features of GD. In addition, GRN gene variants were identified in GD patients and the serum levels of PGRN were significantly lower in GD patients. PGRN directly binds to and functions as a chaperone of the lysosomal enzyme β-glucocerebrosidase (GCaase), whose mutations cause GD. In addition, its C-terminus containing granulin E domain, termed Pcgin (PGRN C-terminus for GCase Interaction), is required for the association between PGRN and GCase. The concept that PGRN acts as a chaperone of lysosomal enzymes was further supported and extended by a recent article showing that PGRN acts as a chaperone molecule of lysosomal enzyme cathepsin D (CSTD), and the association between PGRN and CSTD is also mediated by PGRN's C-terminal granulin E domain. Collectively, these reports suggest that PGRN may act as a shared chaperone and regulates multiple lysosomal enzymes.
多功能因子前颗粒蛋白(PGRN)在溶酶体中发挥重要作用,其突变和功能不足与溶酶体贮积病相关,包括神经元蜡样脂褐质沉积症和戈谢病(GD)。在研究PGRN在炎症中的作用时,意外地取得了在理解PGRN作为溶酶体贮积病调节因子的分子机制方面的首个突破。对PGRN基因敲除小鼠的研究显示出GD的典型特征。此外,在GD患者中鉴定出GRN基因变异,且GD患者血清中PGRN水平显著降低。PGRN直接结合溶酶体酶β-葡萄糖脑苷脂酶(GCaase)并作为其分子伴侣发挥作用,该酶的突变会导致GD。此外,其含有颗粒蛋白E结构域的C末端,称为Pcgin(与GCase相互作用的PGRN C末端),是PGRN与GCaase之间结合所必需的。最近一篇文章表明PGRN作为溶酶体酶组织蛋白酶D(CSTD)的分子伴侣发挥作用,进一步支持并扩展了PGRN作为溶酶体酶分子伴侣的概念,并且PGRN与CSTD之间的结合也由PGRN的C末端颗粒蛋白E结构域介导。总体而言,这些报告表明PGRN可能作为一种共享分子伴侣并调节多种溶酶体酶。