Congenital Sucrase-Isomaltase Deficiency because of an Accumulation of the Mutant Enzyme in the Endoplasmic Reticulum

Gastroenterology

Volumn 125, Issue 6, 2003, Pages 1678-1685

  Ritz, Valentina ^a   Alfalah, Marwan ^a   Zimmer, Klaus Peter ^b   Schmitz, Jacques ^c   Jacob, Ralf ^a   Naim, Hassan Y ^a  

^a UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; COMPLEMENTARY DNA; ENZYME VARIANT; LEUCINE; MUTANT PROTEIN; PHENYLALANINE; PROLINE; SUCRASE ISOMALTASE; THREONINE; VALINE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; APICAL MEMBRANE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOACCUMULATION; BRUSH BORDER; CELL STRAIN COS1; CELL ULTRASTRUCTURE; CELLULAR DISTRIBUTION; CHEMICAL LABELING; CONFOCAL MICROSCOPY; CONGENITAL SUCRASE ISOMALTASE DEFICIENCY; CONTROLLED STUDY; DNA SEQUENCE; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME LOCALIZATION; ENZYME METABOLISM; ENZYME STRUCTURE; GENETIC TRANSFECTION; HUMAN; HUMAN TISSUE; IMMUNOELECTRON MICROSCOPY; IMMUNOPRECIPITATION; INTESTINE BIOPSY; INTESTINE CELL; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TRANSPORT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 0345490995     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2003.09.022     Document Type: Article

References (18)

1. Gregersen N, Bross P, Andrese BS, Pedersen CB, Corydon TJ, Bolund L. The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. J Inherit Metab Dis 2001;24:189-212.
2. Gregersen N, Bross P, Jorgensen MM, Corydon TJ, Andresen BS. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders. J Inherit Metab Dis 2000;23:441-447.
3. Bross P, Corydon TJ, Andresen BS, Jorgensen MM, Bolund L, Gregersen N. Protein misfolding and degradation in genetic diseases. Hum Mutat 1999;14:186-198.
4. Jacob R, Zimmer KP, Schmitz J, Naim HY. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. J Clin Invest 2000;106:281-287.
5. Ouwendijk J, Moolenaar CE, Peters WJ, Hollenberg CP, Ginsel LA, Fransen JA, Naim HY. Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. J Clin Invest 1996;97:633-641.
6. Fransen JA, Hauri HP, Ginsel LA, Naim HY. Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit. J Cell Biol 1991;115:45-57.
7. Naim HY, Roth J, Sterchi EE, Lentze M, Milla P, Schmitz J, Hauri HP. Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme. J Clin Invest 1988;82:667-679.
8. Naim HY, Sterchi EE, Lentze MJ. Biosynthesis of the human sucrase-isomaltase complex. Differential O-glycosylation of the sucrase subunit correlates with its position within the enzyme complex. J Biol Chem 1988;263:7242-7253.
9. Hauri HP, Roth J, Sterchi EE, Lentze MJ. Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency. Proc Natl Acad Sci U S A 1985;82:4423-4427.
10. Alfalah M, Jacob R, Preuss U, Zimmer KP, Naim H, Naim HY. O-linked glycans mediate apical sorting of human intestinal sucrase-isomaltase through association with lipid rafts. Curr Biol 1999;9:593-596.
11. Naim HY, Sterchi EE, Lentze MJ. Biosynthesis and maturation of lactase-phlorizin hydrolase in the human small intestinal epithelial cells. Biochem J 1987;241:427-434.
12. Moolenaar CE, Ouwendijk J, Wittpoth M, Wisselaar HA, Hauri HP, Ginsel LA, Naim HY, Fransen JA. A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal α-glucosidase results in Golgi retention. J Cell Sci 1997;110:557-567.
13. Jacob R, Naim HY. Apical membrane proteins are transported in distinct vesicular carriers. Curr Biol 2001;11:1444-1450.
14. Naim HY, Lacey SW, Sambrook JF, Gething MJ. Expression of a full-length cDNA coding for human intestinal lactase-phlorizin hydrolase reveals an uncleaved, enzymatically active, and transport-competent protein. J Biol Chem 1991;266:12313-12320.
15. Zimmer KP, Matsuda I, Matsuura T, Mori M, Colombo JP, Fahimi HD, Koch HG, Ullrich K, Harms E. Ultrastructural, immunocytochemical and stereological investigation of hepatocytes in a patient with the mutation of the ornithine transcarbamylase gene. Eur J Cell Biol 1995;67:73-83.
16. Dahlqvist A. Assay of intestinal disaccharidases. Anal Biochem 1968;22:99-107.
17. Spodsberg N, Jacob R, Alfalah M, Zimmer KP, Naim HY. Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. J Biol Chem 2001;276:23506-23510.
18. Jacob R, Peters K, Naim HY. The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme. J Biol Chem 2002;277:8217-8225.