Next Article in Journal
Differential Function of Endogenous and Exogenous Abscisic Acid during Bacterial Pattern-Induced Production of Reactive Oxygen Species in Arabidopsis
Next Article in Special Issue
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Previous Article in Journal
Research Progress and Perspective on Drought Stress in Legumes: A Review
Previous Article in Special Issue
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers
Open AccessReview

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

1
Inserm U1051, Institute for Neurosciences of Montpellier, 80 Avenue Augustin Fliche, 34091 Montpellier, France
2
University of Montpellier, 34095 Montpellier, France
3
National Reference Centre for Inherited Sensory Diseases, CHU, 34295 Montpellier, France
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(10), 2542; https://doi.org/10.3390/ijms20102542
Received: 25 April 2019 / Revised: 15 May 2019 / Accepted: 22 May 2019 / Published: 23 May 2019
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of diseases with more than 250 causative genes. The most common form is retinitis pigmentosa. IRDs lead to vision impairment for which there is no universal cure. Encouragingly, a first gene supplementation therapy has been approved for an autosomal recessive IRD. However, for autosomal dominant IRDs, gene supplementation therapy is not always pertinent because haploinsufficiency is not the only cause. Disease-causing mechanisms are often gain-of-function or dominant-negative, which usually require alternative therapeutic approaches. In such cases, genome-editing technology has raised hopes for treatment. Genome editing could be used to (i) invalidate both alleles, followed by supplementation of the wild type gene, (ii) specifically invalidate the mutant allele, with or without gene supplementation, or (iii) to correct the mutant allele. We review here the most prevalent genes causing autosomal dominant retinitis pigmentosa and the most appropriate genome-editing strategy that could be used to target their different causative mutations. View Full-Text
Keywords: Inherited retinal dystrophies; autosomal dominant retinitis pigmentosa; photoreceptors; loss-of-function; gain-of-function; dominant-negative; CRISPR/Cas; gene supplementation; genome-editing; AAV vector Inherited retinal dystrophies; autosomal dominant retinitis pigmentosa; photoreceptors; loss-of-function; gain-of-function; dominant-negative; CRISPR/Cas; gene supplementation; genome-editing; AAV vector
Show Figures

Graphical abstract

MDPI and ACS Style

Diakatou, M.; Manes, G.; Bocquet, B.; Meunier, I.; Kalatzis, V. Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa. Int. J. Mol. Sci. 2019, 20, 2542.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop