Splicing modulation therapy in the treatment of genetic diseases

被引：34

作者：

Arechavala-Gomeza, Virginia ^{[1
]}

Khoo, Bernard ^{[2
]}

Aartsma-Rus, Annemieke ^{[3
]}

机构：

[1] BioCruces Hlth Res Inst, Neuromuscular Disorders Grp, Baracaldo, Bizkaia, Spain

[2] UCL, Div Med, Endocrinol, London, England

[3] Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands

来源：

APPLICATION OF CLINICAL GENETICS | 2014年 / 7卷

关键词：

splicing; therapy; antisense oligonucleotides; cryptic splicing; alternative splicing;

D O I：

10.2147/TACG.S71506

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Antisense-mediated splicing modulation is a tool that can be exploited in several ways to provide a potential therapy for rare genetic diseases. This approach is currently being tested in clinical trials for Duchenne muscular dystrophy and spinal muscular atrophy. The present review outlines the versatility of the approach to correct cryptic splicing, modulate alternative splicing, restore the open reading frame, and induce protein knockdown, providing examples of each. Finally, we outline a possible path forward toward the clinical application of this approach for a wide variety of inherited rare diseases.

引用

页码：245 / 252

页数：8

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