Loss-of-function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS), a rare connective tissue disorder. In this study GLUT10-mediated dehydroascorbic acid (DAA) transport was investigated, supposing its involvement in the pathomechanism. GLUT10 protein produced by in vitro translation and incorporated into liposomes efficiently transported DAA. Silencing of GLUT10 decreased DAA transport in immortalized human fibroblasts whose plasma membrane was selectively permeabilized. Similarly, the transport of DAA through endomembranes was markedly reduced in fibroblasts from ATS patients. Re-expression of GLUT10 in patients’ fibroblasts restored DAA transport activity. The present results demonstrate that GLUT10 is a DAA transporter and DAA transport is diminished in the endomembranes of fibroblasts from ATS patients.
Németh, C.E., Marcolongo, P., Gamberucci, A., Fulceri, R., Benedetti, A., Zoppi, N., et al. (2016). Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport. FEBS LETTERS, 590(11), 1630-1640 [10.1002/1873-3468.12204].
Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport
Marcolongo, Paola;Gamberucci, Alessandra;Fulceri, Rosella;Benedetti, Angiolo;
2016-01-01
Abstract
Loss-of-function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS), a rare connective tissue disorder. In this study GLUT10-mediated dehydroascorbic acid (DAA) transport was investigated, supposing its involvement in the pathomechanism. GLUT10 protein produced by in vitro translation and incorporated into liposomes efficiently transported DAA. Silencing of GLUT10 decreased DAA transport in immortalized human fibroblasts whose plasma membrane was selectively permeabilized. Similarly, the transport of DAA through endomembranes was markedly reduced in fibroblasts from ATS patients. Re-expression of GLUT10 in patients’ fibroblasts restored DAA transport activity. The present results demonstrate that GLUT10 is a DAA transporter and DAA transport is diminished in the endomembranes of fibroblasts from ATS patients.File | Dimensione | Formato | |
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https://hdl.handle.net/11365/1003818