Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects

Mol Biol Cell. 2019 Dec 15;30(26):3076-3089. doi: 10.1091/mbc.E18-07-0415. Epub 2019 Oct 30.

Abstract

Loss-of-function mutations in the nonconventional myosin Vb (Myo5b) result in microvillus inclusion disease (MVID) and massive secretory diarrhea that often begins at birth. Myo5b mutations disrupt the apical recycling endosome (ARE) and membrane traffic, resulting in reduced surface expression of apical membrane proteins. ARE disruption also results in constitutive phosphoinositide-dependent kinase 1 gain of function. In MVID, decreased surface expression of apical anion channels involved in Cl- extrusion, such as cystic fibrosis transmembrane conductance regulator (CFTR), should reduce fluid secretion into the intestinal lumen. But the opposite phenotype is observed. To explain this contradiction and the onset of diarrhea, we hypothesized that signaling effects downstream from Myo5b loss of function synergize with higher levels of glucocorticoids to activate PKA and CFTR. Data from intestinal cell lines, human MVID, and Myo5b KO mouse intestine revealed changes in the subcellular redistribution of PKA activity to the apical pole, increased CFTR phosphorylation, and establishment of apical cAMP gradients in Myo5b-defective cells exposed to physiological levels of glucocorticoids. These cells also displayed net secretory fluid fluxes and transepithelial currents mainly from PKA-dependent Cl- secretion. We conclude that Myo5b defects result in PKA stimulation that activates residual channels on the surface when intestinal epithelia are exposed to glucocorticoids at birth.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Phosphoinositide-Dependent Protein Kinases / metabolism
  • Animals
  • Caco-2 Cells
  • Cell Line, Tumor
  • Chloride Channels / metabolism
  • Cyclic AMP-Dependent Protein Kinases / metabolism*
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism*
  • Diarrhea / congenital
  • Diarrhea / genetics
  • Glucocorticoids / metabolism*
  • Humans
  • Malabsorption Syndromes / genetics
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Knockout
  • Microvilli / genetics
  • Microvilli / pathology
  • Mucolipidoses / genetics
  • Myosin Type V / genetics*

Substances

  • Cftr protein, mouse
  • Chloride Channels
  • Glucocorticoids
  • Membrane Proteins
  • Myo5B protein, mouse
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • 3-Phosphoinositide-Dependent Protein Kinases
  • Cyclic AMP-Dependent Protein Kinases
  • Myosin Type V

Supplementary concepts

  • Microvillus inclusion disease