Altered levels of alpha-synuclein and sphingolipids in Batten disease lymphoblast cells

作者：Kang Sunyang; Heo Tae Hwe^*; Kim Sung Jo

来源：Gene, 2014, 539(2): 181-185.

DOI：10.1016/j.gene.2014.02.017

• Batten disease
• alpha-Synuclein
• Sphingomyelin
• Gangliosides
• Autophagy
• Apoptosis

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 alpha-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 a-synuclein, sphingomyelin, and gangliosides were examined. We observed enhanced levels of alpha-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.

• 出版日期2014-4-15