The Leber Congenital Amaurosis-linked protein AIPL1 and its critical role in photoreceptors
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2018
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Springer Nature
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Sacristan-Reviriego A, Van Der Spuy J. The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. In: Ash JD, Anderson RE, LaVail MM, Bowes Rickman C, Hollyfield JG, Grimm C, editors. Retinal Degenerative Diseases, vol. 1074, Cham: Springer International Publishing; 2018, p. 381–6. https://doi.org/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.