LSDDB

Ceroid Lipofuscinosis type 8 disease

CLN 8 has five transmembrane helices and belongs to TLC superfamily and resides at the endoplasmic reticulum (ER). Transfer of lysosomal enzyme from ER to golgi requires CLN8. Therefore, the loss of functional activity of CLN8 causes lysosomal storage of affected enzymes. It is also reported that the loss of CLN 8 function could lead to exhaustion of soluble enzyme within lysosomes (di Ronza et al., 2018). From literature, the large terminal deletions in CLN 8 gene results in the pathogenesis. Mutations in CLN8 gene located at 8p23.3 (Beesley et al., 2016, p. 8) is responsible for the disease.

Reference :
Beesley, C. et al. (2016) ‘CLN8 disease caused by large genomic deletions’, Molecular Genetics & Genomic Medicine, 5(1), pp. 85–91. doi:10.1002/mgg3.263.
Bunk, J. et al. (2021) ‘Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties’, Frontiers in Cell and Developmental Biology, 9, p. 101. doi:10.3389/fcell.2021.581805.
di Ronza, A. et al. (2018) ‘CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis’, Nature Cell Biology, 20(12), pp. 1370–1377. doi:10.1038/s41556-018-0228-7.