CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease

• DOI: 10.1093/hmg/10.19.2123
• Publication Date: 2002-09-30T18:33:00Z
• Authors: K. Luiro
• Keywords: Batten disease; Neuronal ceroid lipofuscinosis; Synaptophysin; Lipofuscin

Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative of childhood, is caused by mutations in CLN3 gene encoding a putative transmembrane protein. The function currently unknown but it has been shown to localize endosomal/lysosomal compartments non-neuronal cells. In addition, several other intracellular localizations have proposed and controversy reports suggests that may different localization cell types. severely affects cells leaves organs clinically unaffected, thus utmost importance approach mechanism studying expression brain We analysed here mouse using situ hybridization, immunohistochemical staining western blot analysis subcellular fractions. As visual deterioration hallmark we set up primary retinal cultures from both endogenous Semliki Forest virus-mediated human immunofluorescence confocal microscopy. demonstrate abundantly expressed cells, especially cortex, hippocampus cerebellum adult brain. Furthermore, our results indicate neurons not solely lysosomal It localized synaptosomes but, interestingly, targeted synaptic vesicles. novel directs attention towards molecular alterations at synapses. This should yield important clues about mechanisms neurodegeneration disease.