Glucocerebrosidase mutation accelerates alpha-synuclein cytotoxity

最近的研究表明，葡萄糖脑苷酶(GBA)突变是帕金森病的危险因素，然而，GBA突变与神经元变性之间的确切作用。本研究探讨GBA突变在其病理过程中的作用。Gba突变的成纤维细胞在加入线粒体毒素或饥饿后出现细胞凋亡。此外，溶酶体酶组织蛋白酶B(CTSB)活性显著降低。但我们不能清楚地证明α-突触核蛋白是CTSB的底物。

Recent report showed glucocerebrosidase (GBA) mutation is a risk of PD, however, precise function between GBA mutation and neuronal degeneration. In this study, we explored the function of GBA mutation in its pathological process. GBA mutation fibroblasts showed apoptotic cell death after addition of mitochondrial toxin or starvation. Moreover, lysosomal enzyme, cathepsin B (CTSB) activity was significantly reduced. But we could not clearly show thatlpha-synuclein is the substrate of CTSB.