摘要
杜氏肌营养不良症(DMD),X染色体遗传的肌肉萎缩疾病,患者多为男性,其患病几率为1:3500-1:500,是一种罕见的遗传性疾病,由引起肌营养不良的蛋白基因缺陷导致。抗肌萎缩蛋白在维持骨骼肌和心肌纤维的稳定性方面起着关键作用。目前并无有效的治疗方法来改善DMD及其病理生理状态。很多疗法如分子疗法,替代或纠正缺失的及无功能的抗肌萎缩蛋白已设计出来,并用以纠正由抗肌萎缩蛋白缺乏诱导的一系列病理生理变化。目前,我们将通过两种方法进行体内实验观测(包括临床前模型和临床试验),即:(1)腺相关病毒(AAV)介导的抗肌萎缩蛋白基因扩增或补充;(2)反义寡核苷酸(AON)介导的基因外显子跳跃疗法。
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
Current Gene Therapy
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.
Export Options
About this article
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
DOI https://dx.doi.org/10.2174/1566523215666150710123830 |
Print ISSN 1566-5232 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5631 |
Call for Papers in Thematic Issues
Programmed Cell Death Genes in Oncology: Pioneering Therapeutic and Diagnostic Frontiers (BMS-CGT-2024-HT-45)
Programmed Cell Death (PCD) is recognized as a pivotal biological mechanism with far-reaching effects in the realm of cancer therapy. This complex process encompasses a variety of cell death modalities, including apoptosis, autophagic cell death, pyroptosis, and ferroptosis, each of which contributes to the intricate landscape of cancer development and ...read more
![](/images/wayfinder.jpg)
- Author Guidelines
- Bentham Author Support Services (BASS)
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Autophagy: For Better or for Worse, in Good Times or in Bad Times …
Current Molecular Medicine Role of Nitric Oxide and Mitochondrial Nitric Oxide Synthase in Energy Adaptive Responses
Current Cardiology Reviews Prospectives of Antihypertensive Nano-ceuticals as Alternative Therapeutics
Current Drug Targets Dexrazoxane for the Prevention of Cardiac Toxicity and Treatment of Extravasation Injury from the Anthracycline Antibiotics
Current Pharmaceutical Biotechnology Mouse Models of Autoimmune Diseases - Autoimmune Myocarditis
Current Pharmaceutical Design Endothelial Cell Regulation of Cardiac Metabolism Following Diabetes
Cardiovascular & Hematological Disorders-Drug Targets Cardiac Nuclear Imaging: Current Status and Future Directions
Current Medical Imaging New Applications of Oleanolic Acid and its Derivatives as Cardioprotective Agents: A Review of their Therapeutic Perspectives
Current Pharmaceutical Design Pharmacological Characteristics and Clinical Applications of K201
Current Clinical Pharmacology MicroRNA-208a Potentiates Angiotensin II-triggered Cardiac Myoblasts Apoptosis via Inhibiting Nemo-like Kinase (NLK)
Current Pharmaceutical Design Mild Improvement in Mitochondrial Function After a 3-Year Antiretroviral Treatment Interruption Despite Persistent Impairment of Mitochondrial DNA Content
Current HIV Research Sweet and Sour - Oxidative and Carbonyl Stress in Neurological Disorders
CNS & Neurological Disorders - Drug Targets NADPH Oxidases in the Heart
Current Cardiology Reviews Inflammatory Mechanisms in Atherosclerosis: The Impact of Matrix Metalloproteinases
Current Topics in Medicinal Chemistry Cardiac Metabolism in Diabetes Mellitus
Current Pharmaceutical Design Diabetic Cardiovascular Disease – AMP-Activated Protein Kinase (AMPK) as a Therapeutic Target
Cardiovascular & Hematological Agents in Medicinal Chemistry Impact of Ultrasound Contrast Agents in Echocardiographic Assessment of Ischemic Heart Disease
Recent Patents on Cardiovascular Drug Discovery Peripartum Cardiomyopathy: Moving Towards a More Central Role of Genetics
Current Cardiology Reviews The Emerging Role of Coenzyme Q-10 in Aging, Neurodegeneration, Cardiovascular Disease, Cancer and Diabetes Mellitus
Current Neurovascular Research Developing Histone Deacetylase Inhibitors as Anti-Cancer Therapeutics
Current Medicinal Chemistry