Researchers determine the structure of an L-aminoacid transporter related to several human pathologies
There are more than fifty different aminoacid transporters in humans that bring these essential molecules for the cells and which regulate their balance in the cell environment. Now, a research team has characterized the structure of BasC, a L-aminoacid transporter which is related to autism-associated mutations, cystinuria and age-related hearing loss.
There are more than fifty different aminoacid transporters in humans that bring these essential molecules for the cells and which regulate their balance in the cell environment. Now, a research team has characterized the structure of BasC, a L-aminoacid transporter which is related to autism-associated mutations, cystinuria and age-related hearing loss.
Mutations affecting aminoacid transporters can affect several metabolic pathways in the human physiology (neuronal excitability, renal reabsorption, etc.). The new study, published in the journal Nature Communications, is based on the study of BasC, a LAT transporter which is present in bacteria. “In the study, we used BasC as a model because it shows structural and functional similarity to LATs in humans”, notes Manuel Palacín, professor from the Department of Biochemistry and Molecular Biomedicine at the Faculty of Biology of the UB, and head of the Amino Acid Transporters and Disease Lab at the Institute for Research in Biomedicine (IRB Barcelona).
With the structure and the functional analysis of BasC, researchers could identify where the amino acids bind to LAT transporters, apart from profiling the interaction of these compounds and determining the key regions of the transporter which make this union possible. In this study, the contribution of the first authors was determining: Joana Fort, from the Faculty of Biology of the UB and IRB Barcelona, and Ekaitz Errasti-Murugarren and Paola Bartoccioni, from IRB Barcelona.
“Knowing how LATs recognize amino acids to be introduced in the cell allows us understand their functioning and we can decipher the molecular faults associated with different pathologies and therefore develop potential treatments”, adds Manuel Palacín, also member of the Rare Diseases Networking Biomedical Research Center (CIBERER).