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Human Molecular Genetics, 2002, Vol. 11, No. 8 885-891
© 2002 Oxford University Press

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

Juha Isosomppi1, Jouni Vesa2, Anu Jalanko1 and Leena Peltonen1,2,*

1Department of Molecular Medicine, National Public Health Institute and Department of Medical Genetics, University of Helsinki, Center of Excellence in Disease Genetics of the Academy of Finland, Biomedicum, PL 104, FIN-00251 Helsinki, Finland and 2Department of Human Genetics, UCLA School of Medicine, Gonda Neuroscience and Genetics Research Center, Los Angeles, CA 90095-7088, USA

The Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL) belongs to the neuronal ceroid lipofuscinosis group of common recessively inherited neurodegenerative disorders. The CLN 5 gene responsible for this brain disorder codes for a novel protein with no homology to previously reported proteins. In this study, we have investigated the biosynthesis and intracellular localization of this protein in transiently transfected BHK-21 cells using a CLN5-specific peptide antibody. Confocal immunofluorescence microscopy showed that wild-type CLN5 is predominantly targeted to lysosomes and immunoprecipitation analysis recognized a 60 kDa polypeptide. The molecular weight of this protein was reduced to 40 kDa by deglycosylation with Endo H and to 38 kDa with PNGase F. The same-sized glycosylated polypeptides were also observed in the media, suggesting that the 60 kDa glycosylated CLN5 polypeptide represents a soluble lysosomal glycoprotein, not an integral transmembrane protein as predicted earlier. The most common human vLINCL mutation blocked the lysosomal targeting of expressed polypeptides. This would imply that the pathogenesis of vLINCL would be associated with the defective lysosomal trafficking, preventing the normal biological function of the corresponding polypeptide.

* To whom correspondence should be addressed. Tel +1 310 794 5631; Fax: +1 310 794 5446; Email: lpeltonen{at}mednet.ucla.edu


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