Hunting for a cure: The therapeutic potential of gene therapy in Duchenne muscular dystrophy

被引：3

作者：

Hashim, Hasnur Zaman ^{[1
]}

Abdullah, Shahrin Tarmizi Che ^{[1
]}

Sulaiman, Wan Aliaa Wan ^{[2
]}

Hoo, Fan Kee ^{[2
]}

Basri, Hamidon ^{[2
]}

机构：

[1] Int Islamic Univ Malaysia, Dept Internal Med, Pahang, Malaysia

[2] Univ Putra Malaysia, Fac Med & Hlth Sci, Dept Med, Neurol Unit, Serdang 43400, Selangor, Malaysia

来源：

TZU CHI MEDICAL JOURNAL | 2014年 / 26卷 / 01期

关键词：

Cure; Duchenne; Gene therapy; Muscular dystrophy;

D O I：

10.1016/j.tcmj.2014.02.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Duchenne muscular dystrophy (DMD) is an incurable disease and the search for a cure is a challenging journey. However, with recent encouraging progress, we are seeing a light at the end of a long tunnel. This review focuses on several main strategies in gene therapy, including truncated dystrophin gene transfer via viral vectors, antisense mediated exon skipping to restore the reading frame, and readthrough of translation stop codons. An exon skipping agent, eteplirsen, and a termination codon read drug, ataluren, are currently the most promising therapies. With better understanding of the molecular mechanism, gene therapy has improved with regard to the key areas of gene stability, safety, and route of delivery. Consequently, it has emerged as an exciting and hopeful means for novel treatment of this devastating disease. Copyright (C) 2014, Buddhist Compassion Relief Tzu Chi Foundation. Published by Elsevier Taiwan LLC. All rights reserved.

引用

页码：5 / 9

页数：5

共 58 条

[1] Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule [J].

Aartsma-Rus, Annemieke ;

Van Deutekom, Judith C. T. ;

Fokkema, Ivo F. ;

Van Ommen, Gert-Jan B. ;

Den Dunnen, Johan T. .

MUSCLE & NERVE, 2006, 34 (02) :135-144

[2] Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology [J].

Alter, J ;

Lou, F ;

Rabinowitz, A ;

Yin, HF ;

Rosenfeld, J ;

Wilton, SD ;

Partridge, TA ;

Lu, QL .

NATURE MEDICINE, 2006, 12 (02) :175-177

[3]

[Anonymous], NCT01826487

[4] Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice [J].

Barton-Davis, ER ;

Cordier, L ;

Shoturma, DI ;

Leland, SE ;

Sweeney, HL .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (04) :375-381

[5] Pip6-PMO, A New Generation of Peptide-oligonucleotide Conjugates With Improved Cardiac Exon Skipping Activity for DMD Treatment [J].

Betts, Corinne ;

Saleh, Amer F. ;

Arzumanov, Andrey A. ;

Hammond, Suzan M. ;

Godfrey, Caroline ;

Coursindel, Thibault ;

Gait, Michael J. ;

Wood, Matthew J. A. .

MOLECULAR THERAPY-NUCLEIC ACIDS, 2012, 1 :e38

[6] Long-term Restoration of Cardiac Dystrophin Expression in Golden Retriever Muscular Dystrophy Following rAAV6-mediated Exon Skipping [J].

Bish, Lawrence T. ;

Sleeper, Meg M. ;

Forbes, Sean C. ;

Wang, Bingjing ;

Reynolds, Caryn ;

Singletary, Gretchen E. ;

Trafny, Dennis ;

Morine, Kevin J. ;

Sanmiguel, Julio ;

Cecchini, Sylvain ;

Virag, Tamas ;

Vulin, Adeline ;

Beley, Cyriaque ;

Bogan, Janet ;

Wilson, James M. ;

Vandenborne, Krista ;

Kornegay, Joe N. ;

Walter, Glenn A. ;

Kotin, Robert M. ;

Garcia, Luis ;

Sweeney, H. Lee .

MOLECULAR THERAPY, 2012, 20 (03) :580-589

[7] Phase 1 Gene Therapy for Duchenne Muscular Dystrophy Using a Translational Optimized AAV Vector [J].

Bowles, Dawn E. ;

McPhee, Scott W. J. ;

Li, Chengwen ;

Gray, Steven J. ;

Samulski, Jade J. ;

Camp, Angelique S. ;

Li, Juan ;

Wang, Bing ;

Monahan, Paul E. ;

Rabinowitz, Joseph E. ;

Grieger, Joshua C. ;

Govindasamy, Lakshmanan ;

Agbandje-McKenna, Mavis ;

Xiao, Xiao ;

Samulski, R. Jude .

MOLECULAR THERAPY, 2012, 20 (02) :443-455

[8] Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management [J].

Bushby, Katharine ;

Finkel, Richard ;

Birnkrant, David J. ;

Case, Laura E. ;

Clemens, Paula R. ;

Cripe, Linda ;

Kaul, Ajay ;

Kinnett, Kathi ;

McDonald, Craig ;

Pandya, Shree ;

Poysky, James ;

Shapiro, Frederic ;

Tomezsko, Jean ;

Constantin, Carolyn .

LANCET NEUROLOGY, 2010, 9 (01) :77-93

[9] LINKAGE ANALYSIS OF 2 CLONED DNA-SEQUENCES FLANKING THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS ON THE SHORT ARM OF THE HUMAN X-CHROMOSOME [J].

DAVIES, KE ;

PEARSON, PL ;

HARPER, PS ;

MURRAY, JM ;

OBRIEN, T ;

SARFARAZI, M ;

WILLIAMSON, R .

NUCLEIC ACIDS RESEARCH, 1983, 11 (08) :2303-2312

[10]

Emery A E, 1991, Neuromuscul Disord, V1, P19, DOI 10.1016/0960-8966(91)90039-U

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