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

Abstract: 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. [Copyright &y& Elsevier]