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臨床眼科75巻12号

2021年11月発行

文献概要

特集 網膜色素変性のアップデート 【治療法開発研究の最前線】

網膜色素変性に対する遺伝子治療

著者: 池田康博1

所属機関: 1宮崎大学医学部感覚運動医学講座眼科学分野

ページ範囲:P.1475 - P.1482

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●遺伝性網膜変性疾患に対する遺伝子治療の臨床応用が近年加速している。

●遺伝子治療をはじめとするゲノム医療には正確な遺伝子診断が必要とされている。

●網膜色素変性に特化した疾患レジストリが構築され,遺伝子治療をはじめとする治療法開発研究の加速が期待される。

●加齢黄斑変性への遺伝子治療の臨床応用が進んでいる。

参考文献

1)Watson JD, Crick FH:Molecular structure of nucleic acids;a structure for deoxyribose nucleic acid. Nature 171:737-738, 1953
2)Davis BD:Prospects for genetic intervention in man. Science 170:1279-1283, 1970
3)Culliton BJ:Gene therapy:into the home stretch. Science 249:974-976, 1990
4)Bennett J, Wilson J, Sun D et al:Adenovirus vector-mediated in vivo gene transfer into adult murine retina. Invest Ophthalmol Vis Sci 35:2535-2542, 1994
5)Bennett J, Tanabe T, Sun D et al:Photoreceptor cell rescue in retinal degeneration(rd)mice by in vivo gene therapy. Nat Med 2:649-654, 1996
6)Ali RR, Sarra GM, Stephens C et al:Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet 25:306-310, 2000
7)Chévez-Barrios P, Chintagumpala M, Mieler W et al:Response of retinoblastoma with vitreous tumor seeding to adenovirus-mediated delivery of thymidine kinase followed by ganciclovir. J Clin Oncol 23:7927-7935, 2005
8)Campochiaro PA, Nguyen QD, Shah SM et al:Adenoviral vector-delivered pigment epithelium-derived factor for neovascular age-related macular degeneration:results of a phase I clinical trial. Hum Gene Ther 17:167-176, 2006
9)Bainbridge JW, Smith AJ, Barker SS et al:Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358:2231-2239, 2008
10)Maguire AM, Simonelli F, Pierce EA et al:Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 358:2240-2248, 2008
11)五十嵐勉・三宅弘一・小林舞香・他:眼科分野における遺伝子導入法の開発.日医大医会誌13:88-96,2017
12)Hsu PD, Lander ES, Zhang F:Development and applications of CRISPR-Cas9 for genome engineering. Cell 157:1262-1278, 2014
13)Suzuki K, Tsunekawa Y, Hernandez-Benitez R et al:In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration. Nature 540:144-149, 2016
14)Giannelli SG, Luoni M, Castoldi V et al:Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9. PHP. B-based delivery. Hum Mol Genet 27:761-779, 2018
15)Miyazaki M, Ikeda Y, Yonemitsu Y et al:Simian lentiviral vector-mediated retinal gene transfer of pigment epithelium-derived factor protects retinal degeneration and electrical defect in Royal College of Surgeons rats. Gene Ther 10:1503-1511, 2003
16)Lipinski DM, Barnard AR, Singh MS et al:CNTF gene therapy confers lifelong neuroprotection in a mouse model of human retinitis pigmentosa. Mol Ther 23:1308-1319, 2015
17)Nagel G, Szellas T, Huhn W et al:Channelrhodopsin-2, a directly light-gated cation-selective membrane channel. Proc Natl Acad Sci U S A 100:13940-13945, 2003
18)Tomita H, Sugano E, Isago H et al:Channelrhodopsin-2 gene transduced into retinal ganglion cells restores functional vision in genetically blind rats. Exp Eye Res 90:429-436, 2010
19)Koyanagi Y, Akiyama M, Nishiguchi KM et al:Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. J Med Genet 56:662-670, 2019
20)Oishi M, Oishi A, Gotoh N et al:Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Invest Ophthalmol Vis Sci 55:7369-7375, 2014
21)Bainbridge JW, Mehat MS, Sundaram V et al:Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med 372:1887-1897, 2015
mutations:a follow-on phase 1 trial. Lancet 388:661-672, 2016
-mediated inherited retinal dystrophy:a randomised, controlled, open-label, phase 3 trial. Lancet 390:849-860, 2017
24)MacLaren RE, Groppe M, Barnard AR et al:Retinal gene therapy in patients with choroideremia:initial findings from a phase 1/2 clinical trial. Lancet 383:1129-1137, 2014
25)Edwards TL, Jolly JK, Groppe M et al:Visual acuity after retinal gene therapy for choroideremia. N Engl J Med. 374:1996-1998, 2016
26)Lam BL, Davis JL, Gregori NZ et al:Choroideremia gene therapy phase 2 clinical trial:24-month results. Am J Ophthalmol 197:65-73, 2019
27)Fischer MD, Ochakovski GA, Beier B et al:Efficacy and safety of retinal gene therapy using adeno-associated virus vector for patients with choroideremia:a randomized clinical trial. JAMA Ophthalmol 137:1247-1254, 2019
. Nat Med 26:354-359, 2020
29)Sahel JA, Boulanger-Scemama E, Pagot C et al:Partial recovery of visual function in a blind patient after optogenetic therapy. Nat Med 27:1223-1229, 2021
30)池田康博・山本修一・村上 晶・他:日本網膜色素変性レジストリプロジェクトに登録されたデータの解析.日眼会誌125:425-430,2021

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1308

印刷版ISSN:0370-5579

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