ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Nat Commun. 2016 May 19:7:11534. doi: 10.1038/ncomms11534.

Abstract

Mutations in genes required for the glycosylation of α-dystroglycan lead to muscle and brain diseases known as dystroglycanopathies. However, the precise structure and biogenesis of the assembled glycan are not completely understood. Here we report that three enzymes mutated in dystroglycanopathies can collaborate to attach ribitol phosphate onto α-dystroglycan. Specifically, we demonstrate that isoprenoid synthase domain-containing protein (ISPD) synthesizes CDP-ribitol, present in muscle, and that both recombinant fukutin (FKTN) and fukutin-related protein (FKRP) can transfer a ribitol phosphate group from CDP-ribitol to α-dystroglycan. We also show that ISPD and FKTN are essential for the incorporation of ribitol into α-dystroglycan in HEK293 cells. Glycosylation of α-dystroglycan in fibroblasts from patients with hypomorphic ISPD mutations is reduced. We observe that in some cases glycosylation can be partially restored by addition of ribitol to the culture medium, suggesting that dietary supplementation with ribitol should be evaluated as a therapy for patients with ISPD mutations.

MeSH terms

  • Animals
  • Dystroglycans / metabolism*
  • Glycosylation
  • HEK293 Cells
  • Humans
  • Male
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Muscle Fibers, Skeletal / metabolism
  • Nucleoside Diphosphate Sugars / biosynthesis*
  • Nucleotidyltransferases / metabolism*
  • Pentosyltransferases
  • Proteins / metabolism*
  • Rats
  • Ribose / metabolism

Substances

  • FKTN protein, human
  • Membrane Proteins
  • Nucleoside Diphosphate Sugars
  • Proteins
  • Dystroglycans
  • cytidine diphosphate ribitol
  • Ribose
  • FKRP protein, human
  • Pentosyltransferases
  • Nucleotidyltransferases
  • CRPPA protein, human