Basic study for treatment of Japanese type of Cystinuria by peptidomimetic drugs

胱氨酸尿症是一种遗传性疾病，肾脏重吸收胱氨酸和二碱性氨基酸的功能障碍的转运。它会导致胱氨酸的肾病，并导致肾衰竭。80%的日本患者在胱氨酸转运体的C端有相同的突变P482L。在这项研究中，我们揭示了突变转运体在体外和体内功能障碍的机制。这为今后治疗这种疾病打开了大门。

Cystinuria is an inherited disorder of renal reabsorption of cystine and dibasic amino acids by dysfunction of the transporter. It results in nephrollthalasis of cystine and leads to kidney failure. 80% of Japanese patients have the same mutation P482L at the C terminal of the cystine transporter. In this study, we have revealed the mechanism for the dysfunction of the mutant transporter in vitro and in vivo. This opens the door for treatment of the disease in the future.