腺相关病毒（AAV）介导的抗肌萎缩蛋白基因转移研究和杜氏肌营养不良症（DMD）的外显子跳跃治疗研究

Title:Adeno-Associated Virus (AAV) Mediated Dystrophin Gene Transfer Studies and Exon Skipping Strategies for Duchenne Muscular Dystrophy (DMD)

Volume: 15 Issue: 4

Author(s): Klaudia Kawecka, Michael Theodoulides, Yalin Hasoglu, Susan Jarmin, Hanna Kymalainen, Anita Le-Heron and Linda Popplewell, Alberto Malerba, George Dickson and Takis Athanasopoulos

Affiliation:

关键词: 腺相关病毒（AAV），反义寡核苷酸（AONs），杜氏肌肉营养不良症（DMD），抗肌萎缩蛋白，外显子跳跃，体内

摘要: Duchenne muscular dystrophy (DMD), an X-linked inherited musclewasting disease primarily affecting young boys with prevalence of between1:3,500- 1:5,000, is a rare genetic disease caused by defects in the gene for dystrophin. Dystrophin protein is critical to the stability of myofibers in skeletal and cardiac muscle. There is currently no cure available to ameliorate DMD and/or its patho-physiology. A number of therapeutic strategies including molecular-based therapeutics that replace or correct the missing or nonfunctional dystrophin protein have been devised to correct the patho-physiological consequences induced by dystrophin absence. We will review the current in vivo experimentation status (including preclinical models and clinical trials) for two of these approaches, namely: 1) Adeno-associated virus (AAV) mediated (micro) dystrophin gene augmentation/ supplementation and 2) Antisense oligonucleotide (AON)-mediated exon skipping strategies.

Cite this article as:

Klaudia Kawecka, Michael Theodoulides, Yalin Hasoglu, Susan Jarmin, Hanna Kymalainen, Anita Le-Heron and Linda Popplewell, Alberto Malerba, George Dickson and Takis Athanasopoulos , Adeno-Associated Virus (AAV) Mediated Dystrophin Gene Transfer Studies and Exon Skipping Strategies for Duchenne Muscular Dystrophy (DMD), Current Gene Therapy 2015; 15 (4) . https://dx.doi.org/10.2174/1566523215666150710123830