Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Department of Research for Parkinson's Disease, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Methods Mol Biol. 2021;2322:47-52. doi: 10.1007/978-1-0716-1495-2_5.
Glucocerebrosidase (GCase), which is encoded by the GBA1 gene, has lysosomal glycoside hydrolase activity that hydrolyzes glucosylceramide. Defects in GCase lead to the accumulation of glucosylceramide, which causes the development of the lysosomal storage disease known as Gaucher's disease. Loss-of-function mutations in the GBA1 gene are the most important genetic risk factor for synucleinopathies, such as Parkinson's disease and dementia with Lewy bodies. Recent studies on PD genes associated with lysosomal function suggest that GCase activity is decreased in cell models of PD and in neurons derived from PD patients. In this chapter, we describe a protocol to measure GCase activity in cultured cells.
葡萄糖脑苷脂酶（GCase）由 GBA1 基因编码，具有溶酶体糖苷水解酶活性，可水解葡萄糖脑苷脂。GCase 的缺陷导致葡萄糖脑苷脂的积累，从而导致溶酶体贮积病，即 Gaucher 病的发展。GBA1 基因的功能丧失突变是与α-突触核蛋白病（如帕金森病和路易体痴呆）相关的最重要的遗传风险因素。最近对与溶酶体功能相关的 PD 基因的研究表明，PD 细胞模型和源自 PD 患者的神经元中的 GCase 活性降低。在本章中，我们描述了一种在培养细胞中测量 GCase 活性的方案。
