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Visual cycle proteins: Structure, function, and roles in human retinal disease

Andrew Tsin1, Brandi Betts-Obregon2, Jeffery Grigsby3,4,5

  • 1From the Department of Biomedical Sciences, University of Texas Rio Grande Valley School of Medicine, Edinburg, Texas 78541, Andrew.Tsin@utrgv.edu.

The Journal of Biological Chemistry
|July 14, 2018
PubMed

Insights

Visual cycle molecules are crucial for vision. Malfunctions in these proteins cause retinal diseases like retinitis pigmentosa and may contribute to diabetic retinopathy, highlighting targets for future therapies.

Area of Science:

  • Biochemistry
  • Molecular Biology
  • Ophthalmology

Background:

  • The visual cycle involves biochemical and molecular events in the eye essential for sight.
  • Visual cycle proteins play critical roles in retinoid metabolism and photoreceptor function.
  • Dysfunction of these proteins is implicated in various inherited and acquired retinal diseases.

Purpose of the Study:

  • To summarize current knowledge of visual cycle molecular mechanisms.
  • To highlight the structure, function, and disease relevance of key visual cycle proteins.
  • To discuss the progress and future directions of therapeutic interventions for vision preservation.

Main Methods:

  • Literature review and synthesis of existing research on visual cycle biochemistry and molecular biology.
  • Analysis of genetic data linking protein mutations to retinal disease phenotypes.
  • Discussion of ongoing and proposed translational research and clinical trials.

Main Results:

  • Genetic mutations in visual cycle proteins are directly linked to inherited retinal disorders, including retinitis pigmentosa, Leber congenital amaurosis, and Stargardt disease.
  • Anomalies in retinoid metabolism due to protein malfunctions are etiological factors in these ocular diseases.
  • Emerging evidence suggests a role for visual cycle proteins in the development of diabetic retinopathy.

Conclusions:

  • Understanding the visual cycle is fundamental to addressing blindness-causing diseases.
  • Targeting visual cycle pathways offers potential therapeutic strategies for preserving vision.
  • Continued basic and translational research is essential for developing effective interventions.
Keywords:
genetic diseasemembrane proteinmetabolic diseaseprotein isomerasevitamin A

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