Scientists identify new amino acid transporter in the kidney with potential impact on cystinuria

Research groups led by Dr. Virginia Nunes and Dr. Manuel Palacin, UB professors and researchers from Bellvitge Biomedical Research Institute (IDIBELL) and Institute for Research in Biomedicine Barcelona (IRB Barcelona), respectively, at the same time responsible for the Ciber 730 and U731 units for Rare Diseases (CIBERER), have identified the AGT1/rBAT protein as a new amino acid transporter in kidney. The complex is involved in cystine reabsorption in the S3 segment of the proximal tubule. The results, obtained together with the group of Prof Kanai, from Osaka University, have been published in PNAS journal.

The defect in another aminoacid transporter, b0,+AT/rBAT, cause cystinuria in humans (presence of dibasic aminoacids in urine, such as cystine or lysine), the most common inherited aminoaciduria. Thus, defects in the new transporter AGT1/rBAT could cause cystinuria and also explain the cases for which have not yet found mutations in patients presenting this aminoaciduria.

Link to article:

www.pnas.org/cgi/doi/10.1073/pnas.1519959113