Department of Biotechnology, Hoseo University, 165 Baebang, Asan, Chungnam, Republic of Korea.
Lab of Immunology, Integrated Research Institute of Pharmaceutical Sciences, College of Pharmacy, The Catholic University of Korea, Bucheon 420-743, Republic of Korea.
Gene. 2014 Apr 15;539(2):181-5. doi: 10.1016/j.gene.2014.02.017. Epub 2014 Feb 15.
Batten disease (juvenile neuronal ceroid lipofuscinosis) is a neurodegenerative disorder characterized by blindness, seizures, cognitive decline, and early death due to the inherited mutation of the CLN3 gene. Although α-synuclein and sphingolipids are relevant for the pathogenesis of some neuronal disorders, little attention has been paid to their role in Batten disease. To identify the molecular factors linked to autophagy and apoptotic cell death in Batten disease, the levels of α-synuclein, sphingomyelin, and gangliosides were examined. We observed enhanced levels of α-synuclein oligomers and gangliosides GM1, GM2, and GM3 and reduced levels of sphingomyelin and autophagy in Batten disease lymphoblast cells compared with normal lymphoblast cells, possibly resulting in a higher rate of apoptosis typically found in Batten disease lymphoblast cells.
Batten 病（少年神经元蜡样脂褐质沉积症）是一种神经退行性疾病，其特征是由于 CLN3 基因突变而导致失明、癫痫发作、认知能力下降和早逝。尽管α-突触核蛋白和鞘脂类与一些神经元疾病的发病机制有关，但它们在 Batten 病中的作用尚未得到充分关注。为了确定与 Batten 病自噬和细胞凋亡相关的分子因素，检测了α-突触核蛋白、神经鞘磷脂和神经节苷脂的水平。与正常淋巴母细胞相比，我们观察到 Batten 病淋巴母细胞中α-突触核蛋白寡聚体和神经节苷脂 GM1、GM2 和 GM3 的水平升高，而神经鞘磷脂和自噬的水平降低，这可能导致 Batten 病淋巴母细胞中通常发现的更高的凋亡率。
