کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2816509 1159939 2014 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Altered levels of α-synuclein and sphingolipids in Batten disease lymphoblast cells
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Altered levels of α-synuclein and sphingolipids in Batten disease lymphoblast cells
چکیده انگلیسی


• High expression of α-synuclein oligomers and gangliosides in Batten disease cells
• Reduced levels of sphingomyelin and autophagy in Batten disease cells
• Overexpressed gangliosides may switch autophagy toward Batten cell death.
• Reduced autophagy induces α-synuclein oligomerization and aggregation.
• α-Synuclein aggregates are a possible cause of apoptosis in Batten cells.

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 539, Issue 2, 15 April 2014, Pages 181–185
نویسندگان
, , ,