Augmenting vitamin D to combat genetic disease

Chem Biol. 2002 Dec;9(12):1265-6. doi: 10.1016/s1074-5521(02)00287-9.

Abstract

Vitamin D-resistant rickets is a genetic disease that causes severe bone underdevelopment due to mutations in the vitamin D receptor. Orthogonal analogs of vitamin D were recently identified that correct defects in the ligand binding pocket of a mutant receptor associated with this disease.

Publication types

  • Review

MeSH terms

  • Humans
  • Hypophosphatemia, Familial / drug therapy*
  • Hypophosphatemia, Familial / genetics
  • Mutation
  • Protein Binding
  • Receptors, Calcitriol / agonists
  • Receptors, Calcitriol / chemistry
  • Vitamin D / analogs & derivatives*
  • Vitamin D / therapeutic use

Substances

  • Receptors, Calcitriol
  • Vitamin D