[1]李雨雨,李如意,李根林.视网膜色素变性行精准医疗的机制及方法进展[J].眼科新进展,2021,41(4):397-400.[doi:10.13389/j.cnki.rao.2021.0083]
　LI Yuyu,LI Ruyi,LI Genlin.The mechanism and methods of precision medicine for retinitis pigmentosa[J].Recent Advances in Ophthalmology,2021,41(4):397-400.[doi:10.13389/j.cnki.rao.2021.0083]
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视网膜色素变性行精准医疗的机制及方法进展/HTML
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
41卷
期数:
2021年4期
页码:
397-400
栏目:
文献综述
出版日期:
2021-04-05

文章信息/Info

Title:
The mechanism and methods of precision medicine for retinitis pigmentosa
作者:
李雨雨; 李如意; 李根林
100730　北京市，首都医科大学附属北京同仁医院，北京同仁眼科中心，北京市眼科学与视觉科学重点实验室
Author(s):
LI Yuyu; LI Ruyi; LI Genlin
Beijing Tongren Eye Center，Beijing Tongren Hospital，Capital Medical University，Beijing Ophthalmology ＆ Visual Sciences Key Laboratory，Beijing 100730，China
关键词:
原发性视网膜色素变性; 精准医疗; 基因治疗; 基因编辑; 光遗传学
Keywords:
retinitis pigmentosa; precision medicine; gene therapy; gene editing; optogenetics
分类号:
R774.1
DOI:
10.13389/j.cnki.rao.2021.0083
文献标志码:
A
摘要:
原发性视网膜色素变性(RP)引起严重的视网膜营养不良和视力损害，具有高度的临床异质性。基因组测序可以协助RP进行分子诊断来确定致病基因，阐述其发病机制，同时分析基因型-表型的相关性，进而设计个性化治疗方案，奠定精准医疗的基础。本文就RP精准医疗中的基因治疗、基因编辑技术及光遗传学治疗进行综述，以期提供RP精准医疗的方法和应用前景。
Abstract:
Primary retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment, with a high clinical heterogeneity. Genome sequencing can assist RP in molecular diagnosis to determine disease-causing genes, its pathogenesis, and the correlations of phenotype-genotype, so as to design personalized treatment and promote the development of precision medical. In this paper, we summarize gene therapy, gene editing technology and optogenetic methods in RP precision therapy to provide the methods and prospective of RP precision medicine.

参考文献/References:

［1］　GOETZ L H,SCHORK N J.Personalized medicine:motivation,challenges,and progress［J］.Fert Ster,2018,109(6):952-963.
［2］　CARRASCO-RAMIRO F,PEIR-PASTOR R,AGUADO B.Human genomics projects and precision medicine［J］.Gene Ther,2017,24(9):551-561.
［3］　VAYENA E,BLASIMME A.Biomedical big data:new models of control over access,use and governance［J］.J Bioethical Inquiry,2017,14(4):501-513.
［4］　HUGHE S,DYFRIG A.Economics of pharmacogenetic-guided treatments:underwhelming or overstated?［J］.Clin Pharmacol Therap,2018,103(5):749-751.
［5］　YANG L,CUI H,YIN X,DOU H,ZHAO L,CHEN N,et al.Dependable and efficient clinical molecular diagnosis of Chinese RP patient with targeted exon sequencing［J］.PLoS One，2015,10(10):e0140684.
［6］　BIRTEL J,GLIEM M,MANGOLD E,MLLER P L,HOLZ F G,NEUHAUS C,et al.Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa［J］.PLoS One,2018,13(12):e207958.
［7］　PARMEGGIANI F,BARBARO V,MIGLIORATI A,RAFFA P,NESPECA P,DE NADAI K,et al.Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation［J］.Eur J Ophthalmol,2017,27(2):240-248.
［8］　WHEWAY G,DOUGLAS A,BARALLE D,GUILLOT E.Mutation spectrum of PRPF31,genotype-phenotype correlation in retinitis pigmentosa,and opportunities for therapy［J］.Exp Eye Res,2020,192:107950.
［9］　HANNA E,RMUZAT C,AUQUIER P,TOUMI M.Gene therapies development:slow progress and promising prospect［J］.J Mark Access Health Policy,2017,5(1):1265293.
［10］　PETRS-SILVA H,LINDEN R.Advances in gene therapy technologies to treat retinitis pigmentosa［J］.Clin Ophthalmol,2014,8:127-136.
［11］　MOORE N A,MORRAL N,CIULLA T A,BRACHA P.Gene therapy for inherited retinal and optic nerve degenerations［J］.Expert Opin Biol Ther,2018,18(1):37-49.
［12］　DARROW J J.LUXTURNA:FDA documents reveal the value of a costly gene therapy［J］.Drug Discov Today,2019,24(4):949-954.
［13］　GHAZI N G,ABBOUD E B,NOWILATY S R,ALKURAYA H,ALHOMMADI A,CAI H,et al.Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector:results of a phase I trial［J］.Human Genetics,2016,135(3):327-343.
［14］　SLIJKERMAN R W,VACH C,DONA M,GARCA-GARCA G,CLAUSTRES M,HETTERSCHIJT L,et al.Antisense oligonucleotide-based splice correction for ush2a-associated retinal degeneration caused by a frequent deep-intronic mutation［J］.Mol Ther Nucleic Acids,2016,5(10):e381.
［15］　SANGERMANO R,GARANTO A,KHAN M,RUNHART E H,BAUWENS M,BAX N M,et al.Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides［J］.Genet Med,2019,21(8):1751-1760.
［16］　YAU E H,BUTLER M C,SULLIVAN J M.A cellular high-throughput screening approach for therapeutic trans-cleaving ribozymes and RNAi against arbitrary mRNA disease targets［J］.Exp Eye Res,2016,151:236-255.
［17］　ZHU J,MING C,FU X,DUAN Y,HOANG D A,RUTGARD J,et al,Gene and mutation independent therapy via CRISPR-Cas9 mediated cellular reprogramming in rod photoreceptors［J］.Cell Res,2017,27(6):830-833.
［18］　吴世靖.CRISPR/Cas9技术在遗传性眼病基因治疗中的应用［J］.中华实验眼科杂志,2018,36(11):892.
WU S J.Applications of CRISPR/Cas9 genome editing technology in gene therapy for hereditary eye diseases［J］.Chin J Exp Ophthalmol,2018,36(11):892.
［19］　BAKONDI B,LV W,LU B,JONES MK,TSAI Y,KIM K J,et al.In vivo CRISPR/Cas9 gene editing corrects retinal dystrophy in the S334ter-3 rat model of autosomal dominant retinitis pigmentosa［J］.Mol Ther,2016,24(3)：556-563.
［20］　LATELLA M C,DI SALVO M T,COCCHIARELLA F,BENATI D,GRISENDI G,COMITATO A,et al.In vivo editing of the human mutant rhodopsin gene by electroporation of plasmid-based CRISPR/Cas9 in the mouse retina［J］.Mol Ther Nucleic Acids,2016,22,5(11):e389.
［21］　SUZUKI K,TSUNEKAWA Y,HERNANDEZ-BENITEZ R,WU J,ZHU J,KIM E J,et al.In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration［J］.Nature,2016,540(7631):144-149.
［22］　PAN Z H,LU Q,BI A,DIZHOOR A M,ABRAMS G W.Optogenetic approaches to restoring vision［J］.Ann Rev Vis Sci,2015,1(1):185-210.
［23］　BI A,CUI J,MA Y P,OLSHEVSKAYA E,PU M,DIZHOOR A M,et al.Ectopic expression of a microbial-type rhodopsin restores visual responses in mice with photoreceptor degeneration［J］.Neuron,2006,50(1):23-33.
［24］　CRONIN T,VANDENBERGHE L H,HANTZ P,JUTTNER J,REIMANN A,KACS A E,et al.Efficient transduction and optogenetic stimulation of retinal bipolar cells by a synthetic adeno-associated virus capsid and promoter［J］.EMBO Mol Med,2014,6(9):1175-1190.
［25］　DOROUDCHI M M,GREENBERG K P,LIU J,SILKA K A,BOYDEN E S,LOCKRIDGE J A,et al.Virally delivered channelrhodopsin-2 safely and effectively restores visual function in multiple mouse models of blindness［J］.Mol Ther,2011,19(7):1220-1229.
［26］　IVANOVA E,PAN Z H.Evaluation of the adeno-associated virus mediated long-term expression of channelrhodopsin-2 in the mouse retina［J］.Mol Vis,2009,15:1680-1689.
［27］　SUGANO E,ISAGO H,WANG Z,MURAYAMA N,TAMAI M,TOMITA H.Immune responses to adeno-associated virus type 2 encoding channelrhodopsin-2 in a genetically blind rat model for gene therapy［J］.Gene Ther，2011,18(3):266-274.
［28］　DOROUDCHI M M,GREENBERG K P,LIU J,SILKA K A,BOYDEN E S,LOCKRIDGE J A,et al.Virally delivered channelrhodopsin-2 safely and effectively restores visual function in multiple mouse models of blindness［J］.Mol Ther,2011,19(7):1220-1229.
［29］　BAKALL B,HARIPRASAD S M,KLEIN K A .Emerging gene therapy treatments for inherited retinal diseases［J］.Ophthalmic Surg Lasers Imaging Retina,2018,49(7):472-478.
［30］　MARTINEZ-FERNANDEZ DE LA CAMARA C,CEHAJIC-KAPETANOVIC J,MACLAREN R E.RPGR gene therapy presents challenges in cloning the coding sequence［J］.Exp Opin Biol Ther,2020,20(1):63-71.
［31］　李淑贤,刘铁城,陈晓菲,代艾艾，高旭辉，李润璞.视网膜色素变性的基因治疗进展［J］.解放军医学院学报,2017,38(1):82-84,88.
LI S X,LIU T C，CHEN X F，DAI A A，GAO X H，LI R P.Advances in gene therapy for retinitis pigmentosa［J］.Acad J Chin PLA Med Sch Jan,2017,38(1):82-84,88.
［32］　GREGOREVIC P,BLANKINSHIP M J,ALLEN J M,CRAWFORD R W,MEUSE L,MILLER D G,et al.Systemic delivery of genes to striated muscles using adeno-associated viral vectors［J］.Nat Med,2004,10(8):828-834.
［33］　AURICCHIO A,SMITH A J,ALI R R.The future looks brighter after 25 years of retinal gene therapy［J］.Hum Gene Ther,2017,28(11):982-987.

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备注/Memo

备注/Memo:
国家自然科学基金(编号:81271046);北京市自然科学基金项目暨北京市教育委员会科技发展计划重点项目(编号:KZ201510025025)
更新日期/Last Update: 2021-04-05