A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation
Abstract
Sialylation is known to regulate platelet clearance. Sialic acids are terminal sugar components of the oligosaccharide chains of glycoproteins and glycolipids. During platelet ageing, surface modifications such as the loss of sialic acid (i.e., desialylation) expose β-galactose residues. These senescence antigens facilitate platelet clearance, influence the platelet life span, and stimulate thrombopoietin (TPO) production. Greater exposure of non-sialylated glycan chains may be associated with accelerated platelet clearance. Sialyltransferases constitute a family of glycosyltransferases that transfer sialic acid from the donor substrate (cytidine-5’-monophosphate (CMP)-sialic acid) to acceptor oligosaccharide substrates. Mice in which the St3gal4 sialyltransferase gene has been knocked out are thrombocytopenic; the absence of sialic acid increases β-galactose exposure and thus results in the rapid clearance of platelets from the circulation. In sialic acid metabolism, a specific transporter [solute carrier family 35 member A1 (SLC35A1)] transfer CMP-sialic acid to the medialand trans-Golgi apparatus, where it is used as a substrate for the sialylation of proteins by various sialyltransferases (Figure 1). Herein, we report on a congenital deficiency in SLC35A1 in two siblings born to consanguineous parents and who displayed moderate macrothrombocytopenia. The sister (II:1, born in 2001) and brother (II:2, born in 2005) shared similar clinical presentations from birth,…
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