[Polyacrylamide gel electrophoresis analysis of membrane proteins of microvilli and of a cytoplasmic fraction in 8 cases of congenital saccharose intolerance].
The protein composition of the brush border membrane and of a cytoplasmic fraction has been studied by polyacrylamide gel electrophoresis in the presence of sodium dodecyl sulfate in 8 children with congenital sucrose intolerance. The sucrase-isomaltase complex was not found (6 times) or in trace amounts (2 times) among the brush border membrane proteins whereas an abnormal band was visible among the cytoplasmic proteins in the 4 cases where they have been studied. These results suggest that a structural mutation affecting the signal sequence necessary for the complex to be transferred on the luminal side of the endoplasmic reticulum membrane could be at the origin of the disease.
D000293:Adolescent; D002239:Carbohydrate Metabolism, Inborn Errors; D002648:Child; D003593:Cytoplasm / Q000032:analysis*; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000032:analysis*; D008871:Microvilli / Q000032:analysis*; D013395:Sucrose / Q000378:metabolism*
D008565:Membrane Proteins; D013395:Sucrose
Analyse en électrophorèse sur gel de polyacrylamide des protéines de la membrane microvillositaire et d'une fraction cytoplasmique dans 8 cas d'intolérance congénitale au saccharose.