AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase

Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13903-8. doi: 10.1073/pnas.0405160101. Epub 2004 Sep 13.

Abstract

Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is a member of the FK-506-binding protein family expressed specifically in retinal photoreceptors. Mutations in AIPL1 cause Leber congenital amaurosis, a severe early-onset retinopathy that leads to visual impairment in infants. Here we show that knockdown of AIPL1 expression in mice also produces a retinopathy but over a more extended time course. Before any noticeable pathology, there was a reduction in the level of rod cGMP phosphodiesterase (PDE) proportional to the decrease in AIPL1 expression, whereas other photoreceptor proteins were unaffected. Consistent with less PDE in rods, flash responses had a delayed onset, a reduced gain, and a slower recovery of flash responses. We suggest that AIPL1 is a specialized chaperone required for rod PDE biosynthesis. Thus loss of AIPL1 would result in a condition that phenocopies retinal degenerations in the rd mouse and in a subgroup of human patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / metabolism*
  • Adaptor Proteins, Signal Transducing
  • Animals
  • Carrier Proteins / genetics*
  • Disease Models, Animal
  • Exons
  • Eye Proteins
  • Gene Amplification
  • Humans
  • Mice
  • Mice, Knockout
  • Mutation / genetics*
  • Optic Atrophy, Hereditary, Leber / enzymology
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Polymerase Chain Reaction
  • Retinal Rod Photoreceptor Cells / enzymology*

Substances

  • AIPL1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Aipl1 protein, mouse
  • Carrier Proteins
  • Eye Proteins
  • 3',5'-Cyclic-GMP Phosphodiesterases