Researchers IBUB described the First patient affected by a mutation in the nucleoside transporter SLC28 gene family

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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 study, published in the journal BBA Molecular Basis of Disease, is led by Professor Marçal Pastor-Anglada, director of the Institute of Biomedicine of the University of Barcelona (IBUB, IRSJD, CIBEREHD) and Professor André B.P van Kuilenburg, from the Laboratory of Genetic Metabolic Diseases and the University of Amsterdam (the Netherlands). Several IBUB researchers have participated in the study: Sandra Pérez-Torras, Aida Mata-Ventosa, Albert Viel-Oliva, Axel Bidon-Chanal and other experts from the University of British Columbia and the University of Calgary (Canada).

From left to right, the experts Axel Bidon-Chanal,
Marçal Pastor-Anglada, Aida Mata-Ventosa and Sandra Pérez-Torras.