Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development

Description

This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept: “RNA disease”. Parallel to these advances in elucidating the pathophysiology, translational research is also progressing rapidly. The current challenge lies in assessing the effectiveness of treatment, and as such, there is a growing interest in observational studies of the disease’s various clinical symptoms. The book introduces readers to the molecular mechanisms within each organ and the resultant clinical features, which are presented together. In particular, it focuses on the central nervous system, since the pathology of the brain (central nervous system manifestation) has rarely been addressed systematically and will pose a persistent challenge, even if therapies have greatly advanced in the future. In addition, the book addresses the latest developments, such as research using patient-derived iPS cells and therapeutic research. Myotonic Dystrophy provides essential information for neurologists and researchers with an interest in muscle disease, including muscular dystrophy. Furthermore, since the disease involves various complications of the brain, heart, metabolism, etc., the book will be of great value to clinicians and researchers in the cardiovascular sciences, endocrinology, diabetes, dementia, and neuropsychology, as well as genetic specialists. From the Back Cover This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept: “RNA disease”. Parallel to these advances in elucidating the pathophysiology, translational research is also progressing rapidly. The current challenge lies in assessing the effectiveness of treatment, and as such, there is a growing interest in observational studies of the disease’s various clinical symptoms. The book introduces readers to the molecular mechanisms within each organ and the resultant clinical features, which are presented together. In particular, it focuses on the central nervous system, since the pathology of the brain (central nervous system manifestation) has rarely been addressed systematically and will pose a persistent challenge, even if therapies have greatly advanced in the future. In addition, the book addresses the latest developments, such as research using patient-derived iPS cells and therapeutic research. Myotonic Dystrophy provides essential information for neurologists and researchers with an interest in muscle disease, including muscular dystrophy. Furthermore, since the disease involves various complications of the brain, heart, metabolism, etc., the book will be of great value to clinicians and researchers in the cardiovascular sciences, endocrinology, diabetes, dementia, and neuropsychology, as well as genetic specialists. About the Author Masanori P. Takahashi, M.D., Ph.D. Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Japan Tsuyoshi Matsumura, M.D., Ph.D. Department of Neurology, National Hospital Organization Toneyama National Hospital, Japan Front Matter ....Pages i-viii Genetics of Myotonic Dystrophy (Tohru Matsuura)....Pages 1-18 Molecular Mechanisms of Myotonic Dystrophy: RNA-Mediated Pathogenesis and RNA-Binding Proteins (Yoshihiro Kino, Jun-ichi Satoh, Shoichi Ishiura)....Pages 19-43 Clinical Features of Skeletal Muscle and Their Underlying Molecular Mechanism (Masanori P. Takahashi)....Pages 45-61 Cardiac Involvements in Myotonic Dystrophy (Hideki Itoh, Takuhisa Tamura)....Pages 63-76 Clinical Features of the Central Nervous System (Haruo Fujino, Shugo Suwazono, Yuhei Takado)....Pages 77-94 Brain Pathology in Myotonic Dystrophy (Yasushi Iwasaki)....Pages 95-113 Molecular Defects in the DM Central Nervous System (Takashi Kimura)....Pages 115-131 Respiratory Feature in Myotonic Dystrophy (Satoshi Kuru)....Pages 133-147 Glucose Intolerance in Myotonic Dystrophy (Hiromi Iwahashi)....Pages 149-159 Lipid Metabolism in Myotonic Dystrophy (Hiroto Takada)....Pages 161-170 Dysphagia in Myotonic Dystrophy (Sonoko Nozaki)....Pages 171-187 Disease Modeling and Drug Development with DM1 Patient-Derived iPS Cells (Toshiyuki Araki, Masayoshi Kamon, Hidetoshi Sakurai)....Pages 189-201 Therapeutic Development in Myotonic Dystrophy (Masayuki Nakamori)....Pages 203-214