LSDDB

Ceroid Lipofuscinosis type 10 disease

Neurodegenerative disorders like PD (Parkinson’s disease), AD (Alzheimer’s disease) and CLN 10 diseases are linked to the CTSD (aspartic protease Cathepsin D) gene. However not much is known about the lysosomal role of CTSD pertaining to disease development. It is reported that the mutations in CTSD gene associated with NCL 10 disease causes functional impairment of expressed enzymes and proteins. Also, CTSD impairment causes severe pathology in NCL 10 patients when compared to PD and AD (Bunk et al., 2021). The gene for CTSD is located at 11p15.5.

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.