Treating genetic lysosomal diseases due to defective membrane transporters poses a formidable challenge. This team studies cystinosis, a disease due to storage of a special amino-acid, cystine, when its lysosomal membrane exporter does not work : cystine accumulates and crystallizes, causing cell suffering then death everywhere in the body, starting by the kidneys.
Deciphering a mechanism of cystinosis progression led to the identification of a novel way to alleviate cystine accumulation : by interfering with lysosomal cystine supply using other natural amino-acids as competitors. We are currently testing this strategy in laboratory rodents mimicking the human disease. This work is generously supported by a US-based charity, the Cystinosis Research Foundation.
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