Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia

J Clin Invest. 2006 Feb;116(2):386-94. doi: 10.1172/JCI26617. Epub 2006 Jan 12.

Abstract

Choroideremia (CHM) is an X-linked degeneration of the retinal pigment epithelium (RPE), photoreceptors, and choroid, caused by loss of function of the CHM/REP1 gene. REP1 is involved in lipid modification (prenylation) of Rab GTPases, key regulators of intracellular vesicular transport and organelle dynamics. To study the pathogenesis of CHM and to develop a model for assessing gene therapy, we have created a conditional mouse knockout of the Chm gene. Heterozygous-null females exhibit characteristic hallmarks of CHM: progressive degeneration of the photoreceptors, patchy depigmentation of the RPE, and Rab prenylation defects. Using tamoxifen-inducible and tissue-specific Cre expression in combination with floxed Chm alleles, we show that CHM pathogenesis involves independently triggered degeneration of photoreceptors and the RPE, associated with different subsets of defective Rabs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alkyl and Aryl Transferases / genetics
  • Alkyl and Aryl Transferases / metabolism*
  • Animals
  • Choroideremia* / genetics
  • Choroideremia* / metabolism
  • Choroideremia* / pathology
  • Disease Models, Animal
  • Electroretinography
  • Female
  • Humans
  • Male
  • Mice
  • Mice, Knockout
  • Photoreceptor Cells, Vertebrate / metabolism*
  • Photoreceptor Cells, Vertebrate / pathology
  • Pigment Epithelium of Eye / cytology
  • Pigment Epithelium of Eye / metabolism*
  • Pigment Epithelium of Eye / pathology
  • Protein Prenylation
  • Retina / metabolism
  • Retina / pathology
  • Retina / ultrastructure
  • rab GTP-Binding Proteins / genetics
  • rab GTP-Binding Proteins / metabolism

Substances

  • Adaptor Proteins, Signal Transducing
  • CHM protein, human
  • Alkyl and Aryl Transferases
  • rab GTP-Binding Proteins