Microvillus inclusion disease: A genetic defect affecting apical membrane protein traffic in intestinal epithelium

Nadia A. Ameen, Pedro J Salas

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

The striking similarities between microvillus inclusions (MIs) in enterocytes in microvillus inclusion disease (MID) and vacuolar apical compartment in tissue culture epithelial cells, led us to analyze endoscopic biopsies of duodenal mucosa of a patient after the samples were used for diagnostic procedures. Samples from another patient with an unrelated disease were used as controls. The MID enterocytes showed a decrease in the thickness of the apical F-actin layer, and normal microtubules. The immunofluorescence analysis of the distribution of five apical membrane markers (sucrase isomaltase, alkaline phosphatase, NHE-3 Na + /H+ exchanger, cGMP-dependent protein kinase, and cystic fibrosis trans-membrane conductance regulator), showed low levels of these proteins in their standard localization at the apical membrane as compared with normal duodenal epithelium processed in parallel. Instead, four of these markers were found in a diffuse distribution in the apical cytoplasm, below the terminal web (as indicated by co-localization with F-actin and cytokeratin 19), and in MIs as well. The basolateral protein Na+-K + ATPase, in contrast, was normally localized. These results support the hypothesis that MID may represent the first genetic defect affecting apical membrane traffic, possibly in a late step of apical exocytosis.

Original languageEnglish
Pages (from-to)76-83
Number of pages8
JournalTraffic
Volume1
Issue number1
StatePublished - Dec 1 2000

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Intestinal Mucosa
Membrane Proteins
Defects
Membranes
Enterocytes
Microvilli
Actins
Oligo-1,6-Glucosidase
Keratin-19
Sucrase
Cyclic GMP-Dependent Protein Kinases
Sodium-Hydrogen Antiporter
Exocytosis
Tissue culture
Cystic Fibrosis
Microtubules
Biopsy
Fluorescent Antibody Technique
Alkaline Phosphatase
Cytoplasm

Keywords

  • Alkaline phosphatase
  • Cell polarity
  • Cystic fibrosis transmembrane regulator
  • Cytoskeleton
  • Diarrhea
  • Disaccharidases
  • Exocytosis
  • Infantile/pa [pathology]
  • Intestinal diseases
  • Membrane proteins
  • Microvilli/ pa [pathology]

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Genetics
  • Molecular Biology
  • Structural Biology

Cite this

Microvillus inclusion disease : A genetic defect affecting apical membrane protein traffic in intestinal epithelium. / Ameen, Nadia A.; Salas, Pedro J.

In: Traffic, Vol. 1, No. 1, 01.12.2000, p. 76-83.

Research output: Contribution to journalArticle

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