Editorial Retinitis Pigmentosa: Disease Mechanisms...
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Editorial Retinitis Pigmentosa: Disease Mechanisms, Diagnosis, and Therapies Xinhua Shu, 1 Ji-jing Pang, 2,3 Houbin Zhang, 4 and David Mansfield 5 1 Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UK 2 School of Ophthalmology & Optometry, e Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 325027, China 3 Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, FL 32610, USA 4 Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China 5 Department of Ophthalmology, Inverclyde Royal Hospital, Greenock PA16 0XN, UK Correspondence should be addressed to Xinhua Shu; [email protected] Received 29 April 2015; Accepted 29 April 2015 Copyright © 2015 Xinhua Shu et al. is is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Retinitis pigmentosa (RP) is the most genetically and phe- notypically heterogeneous disorder, characterized by the progressive death of photoreceptor cells. In recent years, huge advances have been made in understanding the dis- ease mechanisms, identifying causal genes, and developing therapeutic strategies for this disorder. is special issue updates the knowledge of RP and presents original clinical and experimental research. Photoreceptor cell death is known to be characterized at the early stage by caspase dependent or independent apoptosis and at late stage by necrosis, but the molecular mechanisms are not fully understood. In this special issue, S. R. Patnaik et al. review the functional role of RPGR protein complex in the pathogenesis of RP. Disease mechanisms are further elucidated in mouse (Q. Zheng et al.) and zebrafish models (Y. Liu et al. and S. Akhtar et al.). R. Migliorini et al. discuss RP associated syndromes, such as impaired ocular motility. E. Strobbe et al. report a correlation between ocular inflammation and endothelin (ET-1) plasma levels in early RP patients and suggest that anti-inflammatory therapy may slow the progression of RP. With the development of new technologies such as next generation sequencing (NGS), more and more mutant genes that cause retinal degenerative diseases have been found. B. Gong et al. reported here a recessive RDH12 mutation identified by exome sequencing in severe early onset RP patients, which further verifies the application of NGS for molecular diagnosis of RP. Meanwhile, many naturally occur- ring or genetically engineered animal models have shown gene mutations and phenotypes similar to human inherited retinal diseases, which has led to the development of a variety of therapeutic strategies for those inherited diseases regarded traditionally as incurable. Following the success of Leber congenital amaurosis 2 (LCA2) gene therapy clinical trials, more and more vector based gene therapy clinical trials have been performed on a variety of retinal conditions including RP with MERTK mutation. AAV-mediated gene replacement therapy shows great potential to treat patients in the early stage of the disease. Gene replacement therapy combined with other ap- proaches like treatment with histone deacetylases inhibitors (reviewed by H. Zhang et al.) or antiapoptotic/inflammatory chemicals or natural products, which can extend the thera- peutic window in middle to late stages of those patients, is a potentially promising strategy for improving photoreceptor function and significantly slowing the process of retinal degeneration. Cell replacement is a promising therapeutic strategy for RP. Successful cell replacement treatments have been done in RP animal models, providing hope for RP patients and their families. Chinese medicine has a long history in the treatment of RP; combinational treatment of Chinese medicine with Western medicine may further reduce the progression of RP (reviewed by J. Xu and Q. Peng). Xinhua Shu Ji-jing Pang Houbin Zhang David Mansfield Hindawi Publishing Corporation Journal of Ophthalmology Volume 2015, Article ID 819452, 1 page http://dx.doi.org/10.1155/2015/819452
Transcript of Editorial Retinitis Pigmentosa: Disease Mechanisms...
EditorialRetinitis Pigmentosa: Disease Mechanisms,Diagnosis, and Therapies
Xinhua Shu,1 Ji-jing Pang,2,3 Houbin Zhang,4 and David Mansfield5
1Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UK2School of Ophthalmology & Optometry, The Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 325027, China3Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, FL 32610, USA4Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China andSichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China5Department of Ophthalmology, Inverclyde Royal Hospital, Greenock PA16 0XN, UK
Correspondence should be addressed to Xinhua Shu; [email protected]
Received 29 April 2015; Accepted 29 April 2015
Copyright © 2015 Xinhua Shu et al. This is an open access article distributed under the Creative Commons Attribution License,which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Retinitis pigmentosa (RP) is the most genetically and phe-notypically heterogeneous disorder, characterized by theprogressive death of photoreceptor cells. In recent years,huge advances have been made in understanding the dis-ease mechanisms, identifying causal genes, and developingtherapeutic strategies for this disorder. This special issueupdates the knowledge of RP and presents original clinicaland experimental research.
Photoreceptor cell death is known to be characterizedat the early stage by caspase dependent or independentapoptosis and at late stage by necrosis, but the molecularmechanisms are not fully understood. In this special issue, S.R. Patnaik et al. review the functional role of RPGR proteincomplex in the pathogenesis of RP. Disease mechanisms arefurther elucidated in mouse (Q. Zheng et al.) and zebrafishmodels (Y. Liu et al. and S. Akhtar et al.). R. Migliorini etal. discuss RP associated syndromes, such as impaired ocularmotility. E. Strobbe et al. report a correlation between ocularinflammation and endothelin (ET-1) plasma levels in early RPpatients and suggest that anti-inflammatory therapymay slowthe progression of RP.
With the development of new technologies such as nextgeneration sequencing (NGS), more and more mutant genesthat cause retinal degenerative diseases have been found.B. Gong et al. reported here a recessive RDH12 mutationidentified by exome sequencing in severe early onset RPpatients, which further verifies the application of NGS formolecular diagnosis of RP.Meanwhile, many naturally occur-ring or genetically engineered animal models have shown
gene mutations and phenotypes similar to human inheritedretinal diseases, which has led to the development of a varietyof therapeutic strategies for those inherited diseases regardedtraditionally as incurable.
Following the success of Leber congenital amaurosis 2(LCA2) gene therapy clinical trials, more and more vectorbased gene therapy clinical trials have been performed ona variety of retinal conditions including RP with MERTKmutation. AAV-mediated gene replacement therapy showsgreat potential to treat patients in the early stage of thedisease. Gene replacement therapy combined with other ap-proaches like treatment with histone deacetylases inhibitors(reviewed by H. Zhang et al.) or antiapoptotic/inflammatorychemicals or natural products, which can extend the thera-peutic window in middle to late stages of those patients, is apotentially promising strategy for improving photoreceptorfunction and significantly slowing the process of retinaldegeneration. Cell replacement is a promising therapeuticstrategy for RP. Successful cell replacement treatments havebeen done in RP animal models, providing hope for RPpatients and their families. Chinese medicine has a longhistory in the treatment of RP; combinational treatment ofChinesemedicinewithWesternmedicinemay further reducethe progression of RP (reviewed by J. Xu and Q. Peng).
Xinhua ShuJi-jing Pang
Houbin ZhangDavid Mansfield
Hindawi Publishing CorporationJournal of OphthalmologyVolume 2015, Article ID 819452, 1 pagehttp://dx.doi.org/10.1155/2015/819452
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