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First patient affected by a mutation in the nucleoside transporter SLC28 gene family
A research team has described the first case of a patient affected by dysfunctions in a nucleoside transporter of the SLC28 gene family, which brings a set of genes which were not related to human pathologies in the scientific bibliography so far. In particular, the new study has identified mutations in the SLC28A1 gene, which could affect the synthesis of the hCNT1 protein and therefore, alter the pyrimidine metabolism (organic compounds with a role key in cell physiology).
The new study, published in the journal BBA Molecular Basis of Disease, is led by Professor Marçal Pastor-Anglada, from the Faculty of Biology and the Institute of Biomedicine of the University of Barcelona (IBUB), IRSJD and CIBEREHD, and Professor André B.P van Kuilenburg, from the Laboratory of Genetic Metabolic Diseases and the University of Amsterdam (the Netherlands).
Other participants in this scientific article, whose first signers are Sandra Pérez-Torras and Aida Mata-Ventosa (UB-IBUB-IRSJD-CIBERhed), are Albert Viel-Oliva (UB-IBUB-IRSJD-CIBEREHD), Axel Bidon-Chanal (Faculty of Pharmacy and Food Sciences and Torribera Food and Nutrition Campus of the UB, IBUB and IQTCUB) and other experts from the University of British Columbia and the University of Calgary (Canada).
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