Impaired Trafficking and Subcellular Localization of a Mutant Lactase Associated With Congenital Lactase Deficiency

Gastroenterology

Volumn 136, Issue 7, 2009, Pages 2295-2303

  Behrendt, Marc ^a   Keiser, Markus ^a   Hoch, Melanie ^a   Naim, Hassan Y ^a  

^a UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLYCOSYLCERAMIDASE; LACTASE;

AMINO ACID SUBSTITUTION; ARTICLE; CELL MIGRATION; CELL STRAIN COS1; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DISEASE ASSOCIATION; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; GENE EXPRESSION; GLYCOSYLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRACELLULAR TRANSPORT; LACTASE DEFICIENCY; MUTANT; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STRUCTURE; TEMPERATURE; TEMPERATURE SENSITIVE MUTANT;

EID: 66149131031     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2009.01.041     Document Type: Article

References (43)

1. Naim H.Y. Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase. Histol Histopathol 16 (2001) 553-561
2. Zecca L.M.J., Stutz A., Poirée J.C., et al. Intestinal lactase-phlorizin hydrolase (LPH): the two catalytic sites; the role of the pancreas in pro-LPH maturation. FEBS Lett 435 (1998) 225-228
3. Day A.J., Canada F.J., Diaz J.C., et al. Dietary flavonoid and isoflavone glycosides are hydrolysed by the lactase site of lactase phlorizin hydrolase. FEBS Lett 468 (2000) 166-170
4. Nemeth K., Plumb G.W., Berrin J.G., et al. Deglycosylation by small intestinal epithelial cell β-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans. Eur J Nutr 42 (2003) 29-42
5. Mantei N., Villa M., Enzler T., et al. Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme. EMBO J 7 (1988) 2705-2713
6. Naim H.Y., and Naim H. Dimerization of lactase-phlorizin hydrolase occurs in the endoplasmic reticulum, involves the putative membrane spanning domain, and is required for an efficient transport of the enzyme to the cell surface. Eur J Cell Biol 70 (1996) 198-208
7. Naim H.Y., Lacey S.W., Sambrook J.F., et al. 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 266 (1991) 12313-12320
8. Hauri H.P., Sterchi E.E., Bienz D., et al. Expression and intracellular transport of microvillus membrane hydrolases in human intestinal epithelial cells. J Cell Biol 101 (1985) 838-851
9. Naim H.Y., and Lentze M.J. Impact of O-glycosylation on the function of human intestinal lactase-phlorizin hydrolase. Characterization of glycoforms varying in enzyme activity and localization of O-glycoside addition. J Biol Chem 267 (1992) 25494-25504
10. Wuthrich M., Grunberg J., Hahn D., et al. Proteolytic processing of human lactase-phlorizin hydrolase is a two-step event: identification of the cleavage sites. Arch Biochem Biophys 336 (1996) 27-34
11. Yeh K.Y., Yeh M., and Holt P.R. Intestinal lactase expression and epithelial cell transit in hormone-treated suckling rats. Am J Physiol 260 (1991) G379-G384
12. Naim H.Y., Jacob R., Naim H., et al. The pro region of human intestinal lactase-phlorizin hydrolase. J Biol Chem 269 (1994) 26933-26943
13. Phillips T., Macdonald I., and Keyser A. Some metabolic effects of ingesting galactose, before and after a high-lactose diet. Proc Nutr Soc 37 (1978) 24A
14. Digeon B., and Walker-Smith J.A. Food intolerance and gastrointestinal disease in infancy: personal practice. Dig Dis 4 (1986) 139-146
15. Buller H.A., and Grand R.J. Lactose intolerance. Annu Rev Med 41 (1990) 141-148
16. Harvey C.B., Pratt W.S., Islam I., et al. DNA polymorphisms in the lactase gene. Linkage disequilibrium across the 70-kb region. Eur J Hum Genet 3 (1995) 27-41
17. Wang Y., Harvey C.B., Pratt W.S., et al. The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element. Hum Mol Genet 4 (1995) 657-662
18. Robayo-Torres C.C., and Nichols B.L. Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia. Nutr Rev 65 (2007) 95-98
19. Holzel A., Schwartz V., and Sutcliffe K.W. Defective lactose absorption causing malnutrition in infancy. Lancet 1 (1959) 1126-1128
20. Savilahti E., Launiala K., and Kuitunen P. Congenital lactase deficiency. A clinical study on 16 patients. Arch Dis Child 58 (1983) 246-252
21. Lifshitz F. Congenital lactase deficiency. J Pediatr 69 (1966) 229-237
22. Kuokkanen M., Kokkonen J., Enattah N.S., et al. Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am J Hum Genet 78 (2006) 339-344
23. Keiser M., Alfalah M., Propsting M.J., et al. Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency. J Biol Chem 281 (2006) 14393-14399
24. van Barneveld A., Stanke F., Ballmann M., et al. Ex vivo biochemical analysis of CFTR in human rectal biopsies. Biochim Biophys Acta 1762 (2006) 393-397
25. Saarela T., Simila S., and Koivisto M. Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency. J Pediatr 127 (1995) 920-923
26. Maiuri L., Raia V., Potter J., et al. Mosaic pattern of lactase expression by villous enterocytes in human adult-type hypolactasia. Gastroenterology 100 (1991) 359-369
27. Naim H.Y., Sterchi E.E., and Lentze M.J. Biosynthesis and maturation of lactase-phlorizin hydrolase in the human small intestinal epithelial cells. Biochem J 241 (1987) 427-434
28. Naim H.Y., Roth J., Sterchi E.E., et al. Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme. J Clin Invest 82 (1988) 667-679
29. Fransen J.A., Hauri H.P., Ginsel L.A., et al. Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit. J Cell Biol 115 (1991) 45-57
30. Nakatsukasa K., Huyer G., Michaelis S., et al. Dissecting the ER-associated degradation of a misfolded polytopic membrane protein. Cell 132 (2008) 101-112
31. Propsting M.J., Kanapin H., Jacob R., et al. A phenylalanine-based folding determinant in intestinal sucrase-isomaltase that functions in the context of a quality control mechanism beyond the endoplasmic reticulum. J Cell Sci 118 (2005) 2775-2784
32. Cheng S.H., Gregory R.J., Marshall J., et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63 (1990) 827-834
33. Doms R.W., Keller D.S., Helenius A., et al. Role for adenosine triphosphate in regulating the assembly and transport of vesicular stomatitis virus G-protein trimers. J Cell Biol 105 (1987) 1957-1969
34. Jacob R., Peters K., and Naim H.Y. The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme. J Biol Chem 277 (2002) 8217-8225
35. Ellgaard L., and Helenius A. Quality control in the endoplasmic reticulum. Nat Rev Mol Cell Biol 4 (2003) 181-191
36. Jacob R., Weiner J.R., Stadge S., et al. Additional N-glycosylation and its impact on the folding of intestinal lactase-phlorizin hydrolase. J Biol Chem 275 (2000) 10630-10637
37. Vagin O., Turdikulova S., and Sachs G. Recombinant addition of N-glycosylation sites to the basolateral Na,K-ATPase β1 subunit results in its clustering in caveolae and apical sorting in HGT-1 cells. J Biol Chem 280 (2005) 43159-43167
38. Gelsthorpe M.E., Baumann N., Millard E., et al. Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding. J Biol Chem 283 (2008) 8229-8236
39. Plass J.R., Mol O., Heegsma J., et al. A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump. J Hepatol 40 (2004) 24-30
40. Egan M.E., Pearson M., Weiner S.A., et al. Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 304 (2004) 600-602
41. Zhang X.M., Wang X.T., Yue H., et al. Organic solutes rescue the functional defect in deltaF508 cystic fibrosis transmembrane conductance regulator. J Biol Chem 278 (2003) 51232-51242
42. Fischer H., Fukuda N., Barbry P., et al. Partial restoration of defective chloride conductance in DeltaF508 CF mice by trimethylamine oxide. Am J Physiol Lung Cell Mol Physiol 281 (2001) L52-L57
43. Alfalah M., Keiser M., Leeb T., et al. Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. Gastroenterology 136 (2009) 883-892