Progress in Gene Therapy for Rhodopsin Autosomal Dominant Retinitis Pigmentosa

被引：17

作者：

Sudharsan, Raghavi ^{[1
]}

Beltran, William A. ^{[1
]}

机构：

[1] Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA

来源：

RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY | 2019年 / 1185卷

关键词：

Autosomal dominant retinitis pigmentosa; Rhodpsin; Gene therapy; Knockdown and replacement; PHOTORECEPTOR CELLS; RIBOZYME RESCUE; RNA REPLACEMENT; MOUSE MODEL; RAT MODEL; IN-VIVO; MUTATION; SUPPRESSION;

D O I：

10.1007/978-3-030-27378-1_19

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

This brief review summarizes the major proof-of-concept gene therapy studies for autosomal dominant retinitis pigmentosa (RP) caused by mutations in the rhodopsin gene (RHO-adRP) that have been conducted over the past 20 years in various animal models. We have listed in tabular form the various approaches, gene silencing reagents, gene delivery strategies, and salient results from these studies.

引用

页码：113 / 118

页数：6

共 22 条

[1] In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa [J].

Bakondi, Benjamin ;

Lv, Wenjian ;

Lui, Bin ;

Jones, Melissa K. ;

Tsai, Yuchun ;

Kim, Kevin J. ;

Levy, Rachelle ;

Akhtar, Aslam Abbasi ;

Breunig, Joshua J. ;

Svendseni, Clive N. ;

Wang, Shaomei .

MOLECULAR THERAPY, 2016, 24 (03) :556-563

[2]

Botta S, 2016, ELIFE, V5, DOI [10.7554/eLife/12242, 10.7554/eLife.12242]

[3] Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration [J].

Burnight, Erin R. ;

Gupta, Manav ;

Wiley, Luke A. ;

Anfinson, Kristin R. ;

Tran, Audrey ;

Triboulet, Robinson ;

Hoffmann, Jeremy M. ;

Klaahsen, Darcey L. ;

Andorf, Jeaneen L. ;

Jiao, Chunhua ;

Sohn, Elliott H. ;

Adur, Malavika K. ;

Ross, Jason W. ;

Mullins, Robert F. ;

Daley, George Q. ;

Schlaeger, Thorsten M. ;

Stone, Edwin M. ;

Tucker, Budd A. .

MOLECULAR THERAPY, 2017, 25 (09) :1999-2013

[4] Improved Retinal Function in a Mouse Model of Dominant Retinitis Pigmentosa Following AAV-delivered Gene Therapy [J].

Chadderton, Naomi ;

Millington-Ward, Sophia ;

Palfi, Arpad ;

O'Reilly, Mary ;

Tuohy, Gearoid ;

Humphries, Marian M. ;

Li, Tiansen ;

Humphries, Peter ;

Kenna, Paul F. ;

Farrar, G. Jane .

MOLECULAR THERAPY, 2009, 17 (04) :593-599

[5] Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector [J].

Cideciyan, Artur V. ;

Sudharsan, Raghavi ;

Dufour, Valerie L. ;

Massengill, Michael T. ;

Iwabe, Simone ;

Swider, Malgorzata ;

Lisi, Brianna ;

Sumaroka, Alexander ;

Marinho, Luis Felipe ;

Appelbaum, Tatyana ;

Rossmiller, Brian ;

Hauswirth, William W. ;

Jacobson, Samuel G. ;

Lewin, Alfred S. ;

Aguirre, Gustavo D. ;

Beltran, William A. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2018, 115 (36) :E8547-E8556

[6] A POINT MUTATION OF THE RHODOPSIN GENE IN ONE FORM OF RETINITIS-PIGMENTOSA [J].

DRYJA, TP ;

MCGEE, TL ;

REICHEL, E ;

HAHN, LB ;

COWLEY, GS ;

YANDELL, DW ;

SANDBERG, MA ;

BERSON, EL .

NATURE, 1990, 343 (6256) :364-366

[7] Suppression of mouse rhodopsin expression in vivo by AAV mediated siRNA delivery [J].

Gorbatyuk, M. ;

Justilien, V. ;

Liu, J. ;

Hauswirth, W. W. ;

Lewin, A. S. .

VISION RESEARCH, 2007, 47 (09) :1202-1208

[8] Preservation of photoreceptor morphology P23H rats using an allele independent and function in ribozyme [J].

Gorbatyuk, M. ;

Justilien, V. ;

Liu, J. ;

Hauswirth, W. W. ;

Lewin, A. S. .

EXPERIMENTAL EYE RESEARCH, 2007, 84 (01) :44-52

[9]

Gorbatyuk MS, 2005, MOL VIS, V11, P648

[10] Toward a gene therapy for dominant disease: Validation of an RNA interference-based mutation-independent approach [J].

Kiang, AS ;

Palfi, A ;

Ader, M ;

Kenna, PF ;

Millington-Ward, S ;

Clark, G ;

Kennan, A ;

O'Reilly, M ;

Tam, LCT ;

Aherne, A ;

McNally, N ;

Humphries, P ;

Farrar, GJ .

MOLECULAR THERAPY, 2005, 12 (03) :555-561

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