The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors

Adv Exp Med Biol. 2018:1074:381-386. doi: 10.1007/978-3-319-75402-4_47.

Abstract

Mutations in the photoreceptor/pineal-expressed gene, aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1), are mainly associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retinopathy that occurs in early childhood. AIPL1 functions as a photoreceptor-specific molecular co-chaperone that interacts specifically with the molecular chaperones HSP90 and HSP70 to facilitate the correct folding and assembly of the retinal cGMP phosphodiesterase (PDE6) holoenzyme. The absence of AIPL1 leads to a dramatic degeneration of rod and cone cells and a complete loss of any light-dependent electrical response. Here we review the important role of AIPL1 in photoreceptor functionality.

Keywords: AIPL1; Cone; HSP90; LCA; PDE6; Photoreceptor; Prenylation; Retinal degeneration; Rod.

Publication types

  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / deficiency
  • Adaptor Proteins, Signal Transducing / physiology
  • Animals
  • Carrier Proteins / genetics
  • Carrier Proteins / physiology*
  • Cyclic GMP / metabolism
  • Cyclic Nucleotide Phosphodiesterases, Type 6 / chemistry
  • Cyclic Nucleotide Phosphodiesterases, Type 6 / metabolism*
  • Eye Proteins / chemistry
  • Eye Proteins / genetics
  • Eye Proteins / metabolism*
  • Eye Proteins / physiology
  • HSP72 Heat-Shock Proteins / metabolism
  • HSP90 Heat-Shock Proteins / metabolism
  • Humans
  • Leber Congenital Amaurosis / genetics
  • Leber Congenital Amaurosis / metabolism
  • Light Signal Transduction
  • Mice
  • Mice, Knockout
  • Photoreceptor Cells, Vertebrate / metabolism*
  • Photoreceptor Cells, Vertebrate / pathology
  • Protein Folding*
  • Protein Interaction Mapping
  • Protein Prenylation
  • Protein Processing, Post-Translational
  • Protein Subunits

Substances

  • AIPL1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Aipl1 protein, mouse
  • Carrier Proteins
  • Eye Proteins
  • HSP72 Heat-Shock Proteins
  • HSP90 Heat-Shock Proteins
  • Protein Subunits
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • Cyclic GMP

Supplementary concepts

  • Leber Congenital Amaurosis 4