Current therapeutic strategies for P23H RHO-linked RP

Adv Exp Med Biol. 2014:801:471-6. doi: 10.1007/978-1-4614-3209-8_60.

Abstract

The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO). Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress. Herein, we review current thinking of this topic.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Endoplasmic Reticulum Stress / genetics
  • Genes, Dominant
  • Humans
  • Proteostasis Deficiencies / genetics*
  • Proteostasis Deficiencies / therapy*
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / therapy*
  • Rhodopsin / genetics*

Substances

  • Rhodopsin