Efect of L-Ergothioneine treatment in kidneys of Slc7-/- cystinuria mouse model

Cystinuria (OMIM #220100) is the most common inherited aminoaciduria and it is caused by mutations in the SLC3A1 and SLC7A9 genes, which encode the heavy and light subunits of the b0,+ amino acid transport system. Defects in renal reabsorption lead to the hyperexcretion of cystine, lysine, arginine and ornithine. The low solubility of cystine at physiological urine pH induces its precipitation and calculi formation. New therapeutic alternatives are currently being under investigation and the antioxidant L-Ergothioneine appears to be a good candidate, as it prevents cystine lithiasis formation when administered in the mouse model of cystinuria. As it has been described that L-Ergothioneine needs to be internalized in the kidney to be effective, this data provide the changes in kidney gene expression after L-Ergothioneine treatment (16 mg/kg/day) to try to understand the mechanisms modeleld by this molecule modelate. Overall design: RNA-seq profile of kidneys from Slc7a9-/- cystinuric mice treated with L-Ergothioneine or untreated.