Annekatrien Boel, Joyce Burger, Marine Vanhomwegen, Aude Beyens, Marjolijn Renard, Sander Barnhoorn, Christophe Casteleyn, Dieter P Reinhardt, Benedicte Descamps, Christian Vanhove, Ingrid Pluijm, Paul Coucke, Andy Willaert, Jeroen Essers, Bert Callewaert
Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries. ATS is caused by loss-of-function mutations in SLC2A10, encoding the facilitative glucose transporter GLUT10. Former studies implicated GLUT10 in the transport of dehydroascorbic acid, the oxidized form of ascorbic acid (AA). Mouse models carrying homozygous Slc2a10 missense mutations did not recapitulate the human phenotype. Since mice, in contrast to humans, are able to intracellularly synthesize AA, we generated a novel ATS mouse model, deficient for Slc2a10 as well as Gulo, which encodes for L-gulonolactone oxidase, an enzyme catalyzing the final step in AA biosynthesis in mouse...
April 20, 2020: Human Molecular Genetics