Table Of ContentMUSCULAR DYSTROPHY
Edited by Madhuri Hegde
and Arunkanth Ankala
Muscular Dystrophy
Edited by Madhuri Hegde and Arunkanth Ankala
Published by InTech
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Copyright © 2012 InTech
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First published May, 2012
Printed in Croatia
A free online edition of this book is available at www.intechopen.com
Additional hard copies can be obtained from [email protected]
Muscular Dystrophy, Edited by Madhuri Hegde and Arunkanth Ankala
p. cm.
ISBN 978-953-51-0603-6
Contents
Preface IX
Section 1 Introduction to Muscular Dystrophies 1
Chapter 1 Alpha-Dystroglycanopathy 3
Mieko Yoshioka
Chapter 2 Nuclear Poly (A)-Binding Protein
and Oculopharyngeal Muscular Dystrophy 25
Jnanankur Bag, Quishan Wang and Rumpa Biswas Bhattacharjee
Chapter 3 Myotonic Dystrophy Type 1 (DM1):
From the Genetics to Molecular Mechanisms 47
Jonathan J. Magaña and Bulmaro Cisneros
Chapter 4 Possible Diverse Roles of Fukutin:
More Than Basement Membrane Formation? 73
Tomoko Yamamoto, Atsuko Hiroi, Yoichiro Kato,
Noriyuki Shibata, Makiko Osawa and Makio Kobayashi
Section 2 Pathophysiology and Disease State 89
Chapter 5 Duchenne Muscular Dystrophy and Brain Function 91
J.L. Anderson, S.I. Head and J.W. Morley
Chapter 6 Proteomic Analysis of Signalling
Pathway Deregulation in Dystrophic Dog Muscle 123
Marie Féron, Karl Rouger and Laetitia Guével
Chapter 7 Abnormal Ion Homeostasis
and Cell Damage in Muscular Dystrophy 143
Yuko Iwata and Shigeo Wakabayashi
Chapter 8 Mitogen-Activated Protein Kinases
and Mitogen-Activated Protein Kinase Phosphatases in
Regenerative Myogenesis and Muscular Dystrophy 159
Hao Shi and Anton M. Bennett
VI Contents
Chapter 9 Synaptic Changes at the Spinal Cord Level
and Peripheral Nerve Regeneration During the
Course of Muscular Dystrophy in MDX Mice 173
Gustavo Ferreira Simões and Alexandre Leite Rodrigues de Oliveira
Chapter 10 Altered Gene Expression Pathways
in Duchenne Muscular Dystrophy 191
Nevenka Juretić, Francisco Altamirano,
Denisse Valladares and Enrique Jaimovich
Section 3 Disease Diagnosis and Management 215
Chapter 11 Effects of Dietary Phosphate on Ectopic
Calcification and Muscle Function in mdx Mice 217
Eiji Wada, Namiko Kikkawa, Mizuko Yoshida,
Munehiro Date, Tetsuo Higashi and Ryoichi Matsuda
Chapter 12 Rehabilitation in Muscular Dystrophies:
Changing Approach 235
Imelda J.M. de Groot, Nicoline B.M. Voet,
Merel Jansen and Lenie van den Engel-Hoek
Chapter 13 Database of Wards for Patients
with Muscular Dystrophy in Japan 247
Toshio Saito and Katsunori Tatara
Chapter 14 Diagnosis of the Muscular Dystrophies 261
Leigh B. Waddell, Frances J. Evesson, Kathryn N. North,
Sandra T. Cooper and Nigel F. Clarke
Chapter 15 Advances in Molecular Analysis
of Muscular Dystrophies 289
Arunkanth Ankala and Madhuri R. Hegde
Chapter 16 Motor Function Measure Scale (MFM):
New Instrument for Follow-Up Brazilian
Patients with Neuromuscular Disease 303
Cristina Iwabe, Anamarli Nucci,
Beatriz Helena Miranda Pfeilsticker and Luis Alberto Magna
Chapter 17 Strength and Functional Measurement
for Patients with Muscular Dystrophy 321
Yen-Mou Lu and Yi-Jing Lue
Section 4 Therapy 331
Chapter 18 Muscle Satellite Cells
and Duchenne Muscular Dystrophy 333
Yuko Miyagoe-Suzuki, So-ichiro Fukada and Shin’ichi Takeda
Contents VII
Chapter 19 Exon Skipping and Myoblast Transplantation:
Single or Combined Potential Options
for Treatment of Duchenne Muscular Dystrophy 349
T. Iannitti, D. Lodi, V. Sblendorio, V. Rottigni and B. Palmieri
Chapter 20 Duchenne Muscular Dystrophy:
Therapeutic Approaches to Restore Dystrophin 381
Pietro Spitali and Annemieke Aartsma-Rus
Chapter 21 Stem Cell Based Therapy for Muscular Dystrophies:
Cell Types and Environmental Factors
Influencing Their Efficacy 409
Jennifer Morgan and Hala Alameddine
Chapter 22 Genetic Therapy for Duchenne Muscular Dystrophy:
Principles and Progress 441
Taeyoung Koo, Linda Popplewell,
Alberto Malerba and George Dickson
Section 5 Current Advances and Future Promises 461
Chapter 23 From Basic Research to Clinical Trials:
Preclinical Trial Evaluation in Mouse Models 463
Sasha Bogdanovich and Emidio E. Pistilli
Chapter 24 A Two Stage Model of Skeletal
Muscle Necrosis in Muscular Dystrophy –
The Role of Fiber Branching in the Terminal Stage 475
Stewart Head
Chapter 25 Myotonic Dystrophy Type 1:
Focus on the RNA Pathology and Therapy 499
Nikolaos P. Mastroyiannopoulos,
Andrie Koutsoulidou and Leonidas A. Phylactou
Chapter 26 Duchenne Muscular Dystrophy:
Experimental Models on Physical Therapy 525
Thais Gaiad, Karla Araujo,
Fátima Caromano and Carlos Eduardo Ambrosio
Preface
The journey of the development of an effective treatment for a disorder starts with the
characterization of the clinical phenotype of an individual affected by the disorder.
Genetic disorders run in families by autosomal recessive, dominant, X-linked or
mitochondrial inheritance from either or both parents to child and within a few
generations a group of individuals presenting a common phenotype are observed in
the family. With the globalization of the scientific research, more and more such
families are being identified and are being studied. Technological advancement in the
field of clinical research has resulted in the rapid identification of novel disease-causing
genes providing molecular diagnosis to the affected individuals. Identification of the
causative gene initiates several studies to understand the pathophysiology of the disease,
finally leading to the development of an effective therapy. This book provides a
comprehensive overview of muscular dystrophy which is a group of inherited disorders
characterized by muscle weakness and progressive muscle wasting. To date more than
30 different types and subtypes of muscular dystrophies have been identified, each of
which is caused by mutations in a different gene. Therefore each subtype of muscular
dystrophy needs to be studied individually. With an introduction to the different
muscular dystrophies and the genes involved, the book comprises individual chapters
contributed by different authors currently working in the field of muscular dystrophy.
This book aims to introduce the readers to the basic, clinical as well as translational
research that is currently being carried on in various research laboratories around the
globe. This includes wide aspects of the pathophysiology of the disorder, methods
available for diagnosis of the disorder, therapeutic strategies being explored including
those that are currently in the phase of clinical trials as well as tools and animal
models available for further research.
The editors thank all the authors who have contributed to this book and hope the
knowledge and ideas offered through this book provide the contemporary scientists with
the right direction in which to further their interests in muscular dystrophy research.
Dr Arunkanth Ankala Dr Madhuri Hegde
Department of Human Genetics, Associate Professor,
Emory University School of Medicine, Emory Genetics Lab Scientific Director,
Atlanta, Emory University School of Medicine, Atlanta,
USA USA
