The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

Neurobiology of Disease

Anu Jalanko¹  Leena Peltonen¹  Outi Kopra²  Juha Isosomppi²  Anna-Liisa Fabritius³  Ville Holmberg³ 

[1] Department of Applied Biology, University of Helsinki, Finland;Department of Medical Genetics, University of Helsinki, Finland;Department of Molecular Medicine, National Public Health Institute, FIN-00251 Helsinki, Finland;

关键词: Neuronal ceroid lipofuscinosis;    CLN5;    Lysosomal storage disease;    Neurodegeneration;    Mouse;   

DOI  :  

来源: DOAJ

【 摘 要 】

Neuronal ceroid lipofuscinoses (NCLs) are recessively inherited neurodegenerative lysosomal storage disorders characterized by progressive motor and mental retardation, visual failure, and epileptic seizures. Finnish variant late infantile NCL (vLINCLFin) is caused by mutations in the CLN5 gene. We have isolated the mouse Cln5 gene and analyzed its spatiotemporal expression in the central nervous system (CNS) by in situ hybridization and immunohistochemistry. Cln5 was expressed throughout the embryonic brain already at E15 and the expression steadily increased during development. Prominent expression was observed in cerebellar Purkinje cells, cerebral neurons, hippocampal pyramidal cells, and hippocampal interneurons. The expression pattern correlated with those CNS regions that get degenerated in CLN5 patients. In vitro expression of Cln5 in COS-1, HeLa, and neuronal cells further implied that mouse Cln5 is a soluble lysosomal glycoprotein, closely resembling human CLN5.

【 授权许可】

Unknown