1,6- epi-Cyclophellitol Cyclosulfamidate Is a Bona Fide Lysosomal α-Glucosidase Stabilizer for the Treatment of Pompe Disease

J Am Chem Soc. 2022 Aug 17;144(32):14819-14827. doi: 10.1021/jacs.2c05666. Epub 2022 Aug 2.

Abstract

α-Glucosidase inhibitors are potential therapeutics for the treatment of diabetes, viral infections, and Pompe disease. Herein, we report a 1,6-epi-cyclophellitol cyclosulfamidate as a new class of reversible α-glucosidase inhibitors that displays enzyme inhibitory activity by virtue of its conformational mimicry of the substrate when bound in the Michaelis complex. The α-d-glc-configured cyclophellitol cyclosulfamidate 4 binds in a competitive manner the human lysosomal acid α-glucosidase (GAA), ER α-glucosidases, and, at higher concentrations, intestinal α-glucosidases, displaying an excellent selectivity over the human β-glucosidases GBA and GBA2 and glucosylceramide synthase (GCS). Cyclosulfamidate 4 stabilizes recombinant human GAA (rhGAA, alglucosidase alfa, Myozyme) in cell medium and plasma and facilitates enzyme trafficking to lysosomes. It stabilizes rhGAA more effectively than existing small-molecule chaperones and does so in vitro, in cellulo, and in vivo in zebrafish, thus representing a promising therapeutic alternative to Miglustat for Pompe disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cyclohexanols
  • Glucan 1,4-alpha-Glucosidase / metabolism
  • Glycogen / metabolism
  • Glycogen / therapeutic use
  • Glycogen Storage Disease Type II* / drug therapy
  • Glycogen Storage Disease Type II* / metabolism
  • Glycoside Hydrolase Inhibitors / pharmacology
  • Humans
  • Zebrafish / metabolism
  • alpha-Glucosidases / metabolism

Substances

  • Cyclohexanols
  • Glycoside Hydrolase Inhibitors
  • cyclophellitol
  • Glycogen
  • alpha-Glucosidases
  • Glucan 1,4-alpha-Glucosidase