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Sanfilippo disease Supported projects Lysosomal enhancement as a therapeutic strategy for MPS

Lysosomal enhancement as a therapeutic strategy for MPS

(Photo : Prof. Marco Sardiello)

Prof. Marco Sardiello’s team is working on lysosome formation mechanisms. Recently, these researchers have discovered that a genetic programme controls cellular recycling by regulating biogenesis and lysosome function. The researchers have identified a gene known as TFEB which acts as a molecular driver for most of the genes with lysosomal functions. The team has shown that increasing the quantity of TFEB causes the cells to produce more lysosomes and consequently reinforce their breakdown capacity.

This project aims to test whether increasing cellular breakdown capacity using the TFEB gene could constitute a therapeutic approach for Sanfilippo disease. The final objective is to identify compounds capable of activating TFEB in order to obtain increased cellular activity where lysosome function is compromised because of a genetic defect. These compounds would then be studied as drug candidates in pre-clinical in vitro trials and in animal models of Sanfilippo disease.