LSDDB

Ceroid Lipofuscinosis type 2 disease

CLN 2: It is a late onset infantile disorder. The defective enzyme responsible for causing the disease is called TPP1 (tripeptidyl peptidase 1). Mutations in this TPP1 gene located at 11p15.4 cause accumulation of Ceroid lipofuscin within lysosomes. Substrate for TPP1 enzyme and the reason for neurodegeneration are unknown (Sheth et al., 2018, p. 1).

Reference :
Sheth, J. et al. (2018) ‘Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients’, BMC Neurology, 18(1), p. 203. doi:10.1186/s12883-018-1206-1.