Main description:

This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on "Omics" techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.
Authoritative and practical, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder.

Contents:

Part I: Reviews and Overview Chapters

1. An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy

Jean K. Mah

2. Clinical Manifestations and Overall Management Strategies for Duchenne Muscular Dystrophy

Takeshi Tsuda

Part II: Skeletal and Cardiac Muscle in DMD

3. Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies

Sophie I. Mavrogeni, George Markousis-Mavrogenis, Antigoni Papavasiliou, George Papadopoulos, and Genovefa Kolovou

4. Characterization of the Inflammatory Response in Dystrophic Muscle Using Flow Cytometry

Jenna M. Kastenschmidt, Ileen Avetyan, and S. Armando Villalta

5. Imaging Analysis of the Neuromuscular Junction in Dystrophic Muscle

Stephen J.P. Pratt, Shama R. Iyer, Sameer B. Shah, and Richard M. Lovering

Part III: Omics Approaches

6. System Biology Approach: Gene Network Analysis for Muscular Dystrophy

Federica Censi, Giovanni Calcagnini, Eugenio Mattei, and Alessandro Giuliani

7. Proteomic Profiling of the Dystrophin-Deficient Brain

Sandra Murphy and Kay Ohlendieck

8. Probing the Pathogenesis of Duchenne Muscular Dystrophy Using Mouse Models

Alexander Morrison-Nozik and Saptarsi M. Haldar

Part IV: Exon Skipping and Antisense Oligonucleotides (ASOs)

9. Exon Skipping Therapy Using Phosphorodiamidate Morpholino Oligomers in the mdx52 Mouse Model of Duchenne Muscular Dystrophy

Shouta Miyatake, Yoshitaka Mizobe, Hotake Takizawa, Yuko Hara, Toshifumi Yokota, Shin'ichi Takeda, and Yoshitsugu Aoki

10. Designing Effective Antisense Oligonucleotides for Exon Skipping

Takenori Shimo, Rika Maruyama, and Toshifumi Yokota

11. Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay

Julie Miro, Cyril F. Bourgeois, Mireille Claustres, Michel Koenig, and Sylvie Tuffery-Giraud

12. The Use of Antisense Oligonucleotides for the Treatment of Duchenne Muscular Dystrophy

Karima Relizani and Aurelie Goyenvalle

13. PMO Delivery System Using Bubble Liposomes and Ultrasound Exposure for Duchenne Muscular Dystrophy Treatment

Yoichi Negishi, Yuko Ishii, Kei Nirasawa, Eri Sasaki, Yoko Endo-Takahashi,

Ryo Suzuki, and Kazuo Maruyama

Part V: Biomarkers and Drug Discovery

14. Proton Nuclear Magnetic Resonance (1H NMR) Spectroscopy-Based Analysis of Lipid Components in Serum / Plasma of Patients with Duchenne Muscular Dystrophy (DMD)

Niraj Kumar Srivastava

15. Test of Anti-Fibrotic Drugs in a Cellular Model of Fibrosis Based on Muscle-Derived Fibroblasts from Duchenne Muscular Dystrophy Patients

Simona Zanotti and Marina Mora

16. Flow Cytometry-Defined CD49d Expression in Circulating T-Lymphocytes is a Biomarker for Disease Progression in Duchenne Muscular Dystrophy

Wilson Savino, Fernanda Pinto-Mariz, and Vincent Mouly

Part VI: Last Discoveries and Future Prospectives

17. Advanced Methods to Study the Cross-Talk Between Fibro-Adipogenic Progenitors and Muscle Stem Cells

Luca Tucciarone, Usue Etxaniz, Martina Sandona, Silvia Consalvi, Pier Lorenzo Puri, and Valentina Saccone

18. AAV6 Vector Production and Purification for Muscle Gene Therapy

Christine L. Halbert, James M. Allen, and Jeffrey S. Chamberlain

19. From gRNA Identification to the Restoration of Dystrophin Expression: A Dystrophin Gene Correction Strategy for Duchenne Muscular Dystrophy Mutations Using the CRISPR-Induced Deletion Method

Benjamin Duchene, Jean-Paul Iyombe-Engembe, Joel Rousseau, Jacques P. Tremblay, and Dominique L. Ouellet