Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds

Bunel, Morgane; Chaudieu, G.; Hamel, Christian; Lagoutte, Laëtitia; Manes, Gae͏̈l; Botherel, Nadine; Brabet, Philippe; Pilorge, Philippe; André, Catherine; Quignon, Pascale

doi:10.1007/s00439-019-01999-6

Cited by 36 publications

(36 citation statements)

References 82 publications

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“…Inherited forms of retinal degeneration (RD) encompass a genetically and clinically heterogeneous group of disorders estimated to cause vision impairment and loss in more than 5.5 million individuals worldwide [1,2], with 282 mapped and identified retinal degenerative disease genes documented in the RetNet human database [3]. Animal models, such as non-human primates [4], dogs [5], mice [6,7], zebrafish [8], and fruit flies [9], have been used to identify candidates for human retinal disease genes, to elucidate pathological mechanisms, and to serve as a resource for exploring therapeutic approaches. As potential therapies for retinal diseases are investigated, the need for animal models increases.…”

Section: Introductionmentioning

confidence: 99%

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

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Gogna

Chang

et al. 2020

Cells

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Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal models, particularly the laboratory mouse, have been used to understand the pathogenic mechanisms that underlie PR cell loss and to explore therapies that may prevent, delay, or reverse RD. Here, we reviewed entries in the Mouse Genome Informatics and PubMed databases to compile a comprehensive list of monogenic mouse models in which PR cell loss is demonstrated. The progression of PR cell loss with postnatal age was documented in mutant alleles of genes grouped by biological function. As anticipated, a wide range in the onset and rate of cell loss was observed among the reported models. The analysis underscored relationships between RD genes and ciliary function, transcription-coupled DNA damage repair, and cellular chloride homeostasis. Comparing the mouse gene list to human RD genes identified in the RetNet database revealed that mouse models are available for 40% of the known human diseases, suggesting opportunities for future research. This work may provide insight into the molecular players and pathways through which PR degenerative disease occurs and may be useful for planning translational studies.

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Section: Introductionmentioning

confidence: 99%

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Collin

Gogna

Chang

et al. 2020

Cells

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“…Mutations in seventeen canine genes have been recognized to date as the cause of different types of PRA, including rod-cone dysplasias (RCD), progressive retinal atrophies (PRA), generalized progressive retinal atrophy (GPRA), and progressive rod-cone degeneration (PRCD). Canine PRAs are thus considered natural models of human RP (Petersen-Jones and Komáromy 2015; Bunel et al 2019).…”

Section: Eye Diseasesmentioning

confidence: 99%

Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies

Świtoński

2020

J Appl Genetics

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Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases have clinical and molecular counterparts in humans. The affected dogs have thus become valuable models for preclinical studies of gene therapy for problems such as eye diseases, immunodeficiency, lysosomal storage diseases, hemophilia, and muscular dystrophy. Successful gene therapies in dogs have significantly contributed to decisions to run clinical trials for several human diseases, such as Leber's congenital amaurosis 2-LCA2 (caused by a mutation of RPE65), X-linked retinitis pigmentosa-XLRP (caused by mutation RPGR), and achromatopsia (caused by mutation of CNGB3). Promising results were also obtained for canine as follows: hemophilia (A and B), mucopolysaccharidoses (MPS I, MPS IIIB, MPS VII), leukocyte adhesion deficiency (CLAD), and muscular dystrophy (a counterpart of human Duchenne dystrophy). Present knowledge on molecular background of canine monogenic diseases and their successful gene therapies prove that dogs have an important contribution to preclinical studies.

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“…Progressive retinal atrophy (PRA) in dogs, referred to as retinitis pigmentosa in humans, represents high heterogeneity, as it is not a single disease but characterizes the clinical findings for which the genetic basis has been identified for more than 90 genes in dogs. Bunel et al (2019) in their review of the genetic basis of PRA in dogs describe the work to date to identify the genetic causes of this common inherited condition and nicely illustrate how the dog has served and continues to serve as an important animal model for humans. In addition, their work in the Border Collie for an X-linked PRA demonstrates that even though certain dog breeds are highly inbred, some mutations can remain elusive and difficult to identify in this model organism.…”

Section: Animal Models For Human Disease and Gene Therapiesmentioning

confidence: 99%

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs

Shaffer¹

2019

Hum Genet

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Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds

Cited by 36 publications

References 82 publications

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs

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