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Related Concept Videos

Channel Rhodopsins01:11

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Most organisms use photoreceptors to sense and respond to light. Examples of photoreceptors include bacteriorhodopsins and bacteriophytochromes in some bacteria, phytochromes in plants, and rhodopsins in the photoreceptor cells of the vertebral retina. The light-sensitive property of these receptors is because of the bound chromophores, such as bilin in the phytochromes and retinal in the rhodopsins.
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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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A Rhodopsin Transport Assay by High-Content Imaging Analysis
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Gene Therapy for Rhodopsin Mutations.

Alfred S Lewin1, W Clay Smith1

  • 1Departments of Molecular Genetics and Microbiology and Ophthalmology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.

Cold Spring Harbor Perspectives in Medicine
|August 8, 2022
PubMed
Summary
This summary is machine-generated.

Mutations in the rhodopsin gene cause autosomal-dominant retinitis pigmentosa (adRP). Gene therapies show promise for treating adRP by targeting the mutation or preserving photoreceptor cells.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Mutations in the rhodopsin gene (RHO) are a primary cause of autosomal-dominant retinitis pigmentosa (adRP).
  • adRP presents with two main clinical phenotypes: early-onset, pan-retinal degeneration, and slowly progressive disease.

Purpose of the Study:

  • To explore therapeutic strategies for RHO-adRP, including gene-level correction and photoreceptor preservation.
  • To differentiate treatment approaches based on clinical presentation and disease progression.

Main Methods:

  • Review of current and emerging gene therapy approaches targeting the RHO gene at DNA or RNA levels.
  • Evaluation of strategies aimed at sustaining photoreceptor viability independent of mutation correction.

Main Results:

  • Gene correction and mutant RNA replacement show promise in preclinical models.
  • Photoreceptor-supportive therapies may delay central vision loss and preserve photoreceptors for future gene-directed treatments.

Conclusions:

  • Therapeutic strategies for RHO-adRP should be tailored to clinical phenotypes.
  • Both direct genetic correction and photoreceptor preservation offer potential avenues for treating this inherited retinal disease.