In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models

PLoS One. 2009 Oct 7;4(10):e7320. doi: 10.1371/journal.pone.0007320.

Abstract

Gaucher disease is a lysosomal storage disease caused by mutations in acid beta-glucosidase (GCase) leading to defective hydrolysis and accumulation of its substrates. Two L-type calcium channel (LTCC) blockers-verapamil and diltiazem-have been reported to modulate endoplasmic reticulum (ER) folding, trafficking, and activity of GCase in human Gaucher disease fibroblasts. Similarly, these LTCC blockers were tested with cultured skin fibroblasts from homozygous point-mutated GCase mice (V394L, D409H, D409V, and N370S) with the effect of enhancing of GCase activity. Correspondingly, diltiazem increased GCase protein and facilitated GCase trafficking to the lysosomes of these cells. The in vivo effects of diltiazem on GCase were evaluated in mice homozygous wild-type (WT), V394L and D409H. In D409H homozygotes diltiazem (10 mg/kg/d via drinking water or 50-200 mg/kg/d intraperitoneally) had minor effects on increasing GCase activity in brain and liver (1.2-fold). Diltiazem treatment (10 mg/kg/d) had essentially no effect on WT and V394L GCase protein or activity levels (<1.2-fold) in liver. These results show that LTCC blockers had the ex vivo effects of increasing GCase activity and protein in the mouse fibroblasts, but these effects did not translate into similar changes in vivo even at very high drug doses.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Calcium Channel Blockers / pharmacology*
  • Calcium Channels, L-Type / chemistry*
  • Diltiazem / pharmacology
  • Disease Models, Animal
  • Fibroblasts / drug effects
  • Gaucher Disease / drug therapy*
  • Gaucher Disease / genetics*
  • Glucosylceramidase / metabolism*
  • Homozygote
  • Mice
  • Mice, Transgenic
  • Models, Biological
  • Mutation
  • Skin / drug effects
  • Verapamil / pharmacology

Substances

  • Calcium Channel Blockers
  • Calcium Channels, L-Type
  • Verapamil
  • Glucosylceramidase
  • Diltiazem