LSDDB

Galactosialidosis

It is a genetic disorder affecting the serine caboxypeptidase. It is a protective protein which additionally stabilizes the neuraminidase and galactosidase PPCA or CTSA (protective protein/Cathepsin A) is a multifunctional enzyme with both protective and catalytic activities (Cadaoas et al., 2021). It is also involved in the inactivation of LAMP2a protein which is a membrane protein involved in chaperone mediated autophagy. Therefore it also affects protein degradation (Caciotti et al., 2013). Besides it has additional functions to stabilize NEU1 (neuraminidase 1) and β-Gal (β-galactosidase). The combined functional deficiency of PPCA, NEU1 and β-Gal results in the accumulation of sialated glycoproteins and other oligosaccharides (Cadaoas et al., 2021). The CTSA gene is located at 20q13.1 (Annunziata and d’Azzo, 2017).

Reference :
Annunziata, I. and d’Azzo, A. (2017) ‘Galactosialidosis: historic aspects and overview of investigated and emerging treatment options’, Expert opinion on orphan drugs, 5(2), pp. 131–141. doi:10.1080/21678707.2016.1266933.
Caciotti, A. et al. (2013) ‘Galactosialidosis: review and analysis of CTSA gene mutations’, Orphanet Journal of Rare Diseases, 8, p. 114. doi:10.1186/1750-1172-8-114.
Cadaoas, J. et al. (2021) ‘Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept’, Molecular Therapy - Methods & Clinical Development, 20, pp. 191–203. doi:10.1016/j.omtm.2020.11.012.