Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport

Autor: Éva Margittai, Marina Colombi, Pál Gróf, Bert Callewaert, Paul Coucke, Tamás Mészáros, Szilvia K. Nagy, Andy Willaert, Nicoletta Zoppi, Paola Marcolongo, Gábor Bánhegyi, Angiolo Benedetti, Csilla E. Németh, Rosella Fulceri, Marco Ritelli, Nicola Chiarelli, Alessandra Gamberucci
Rok vydání: 2016
Předmět:
Joint Instability
0301 basic medicine
Endomembranes
Arterial tortuosity syndrome
Vascular Malformations
Glucose Transport Proteins
Facilitative
Biophysics
Ascorbic Acid
030105 genetics & heredity
Biology
Dehydroascorbic acid transport
Biochemistry
03 medical and health sciences
chemistry.chemical_compound
Structural Biology
Genetics
medicine
Humans
Ascorbate
RNA
Small Interfering
Fe2+/2-oxoglutarate-dependent dehydrogenases
Molecular Biology
Cells
Cultured
Dehydroascorbic acid
GLUT10
Cell Biology
arterial tortuosity syndrome
ascorbate
dehydroascorbic acid
endomembranes
Endoplasmic reticulum
Glucose transporter
Skin Diseases
Genetic
Biological Transport
Transporter
Arteries
Intracellular Membranes
Fibroblasts
Ascorbic acid
medicine.disease
Molecular biology
In vitro
Cell biology
030104 developmental biology
Gene Expression Regulation
chemistry
RNA Interference
Zdroj: FEBS Letters. 590:1630-1640
ISSN: 0014-5793
DOI: 10.1002/1873-3468.12204
Popis: 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.
Databáze: OpenAIRE
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