Mechanisms in Duchenne Muscular Dystrophy Pathophysiology and Treatment PDF Download
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Author: Atsushi Asakura
Publisher: Frontiers Media SA
ISBN: 2832533809
Category : Science
Languages : en
Pages : 150
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Book Description
Author: Atsushi Asakura
Publisher: Frontiers Media SA
ISBN: 2832533809
Category : Science
Languages : en
Pages : 150
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Book Description
Author: Steve J. Winder
Publisher: CRC Press
ISBN: 1498713963
Category : Science
Languages : en
Pages : 250
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Book Description
There is no doubt that the study of the muscular dystrophies in recent years has been exciting and rewarding. It has attracted the attention of many investigators of international repute, and this is reflected in the various contributions to this volume. Molecular Mechanisms of Muscular Dystrophies represents a personal collection of chapters cover
Author: Koreen Lynn Burrow
Publisher:
ISBN:
Category :
Languages : en
Pages : 114
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Book Description
Author: Luciano Merlini
Publisher: Frontiers Media SA
ISBN: 2889196844
Category : Neurosciences. Biological psychiatry. Neuropsychiatry
Languages : en
Pages : 250
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Book Description
Loss of muscle mass and increased fibrosis characterize both sarcopenia of aging and muscular dystrophy. Research is increasingly showing that these two conditions also share several pathophysiological mechanisms, including mitochondrial dysfunction, increased apoptosis, abnormal modulation of autophagy, decline in satellite cells, increased generation of reactive oxygen species, and abnormal regulation of signaling and stress response pathways. This Research Topic will cover several mechanisms involved in aging and dystrophic sarcopenia and explore the therapeutic potential of various strategies for intervention.
![New Insights Into the Disease Mechanisms of Duchenne Muscular Dystrophy Through Analyses of the Dystrophin, I[kappa]B[beta], and CASK Proteins PDF](https://books.google.com/books/content/images/frontcover/u4bVjwEACAAJ?fife=w80-h100)
Author: Katherine Lynn Gardner
Publisher:
ISBN:
Category : Duchenne muscular dystrophy
Languages : en
Pages : 163
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Book Description
Abstract: Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease caused by the lack of functional dystrophin. Despite research focused on the replacement of the defective gene and the structure and function of dystrophin, there is no effective treatment of cure for this inevitably fatal disease. Rescue of dystrophin deficient, mdx, and utrophin/dystrophin deficient, dko, mouse models by the reintroduction of dystrophin has validated gene therapy as a therapeutic approach for DMD. Unfortunately the gene exceeds the capacity of adeno-associated viral (AAV) vectors. We investigated the expression of required dystrophin domains from two molecules as a means of expanding AAV capacity. Although the dystrophin proteins co-localize at the membrane, no improvement of dystrophic pathology is observed. Therefore, trans introduction of overlapping, truncated dystrophin proteins cannot be used to overcome cloning capacity limitations. The signaling mechanisms that lead from dystrophin deficiency to clinical DMD are largely unknown. We also conducted a proteomic analysis of phosphorylation differences between mdx and dko skeletal muscle and an immunoblot based examination of known signaling pathways. A serine phosphoprotein was observed in dko mitochondrial and microsome fractions but absent from corresponding mdx preparations. Unfortunately protein identification was inhibited by the abundance of actin in muscle. The nuclear factor-[kappa]B inhibitor, I[kappa]B[beta], was observed to exhibit an increase presence in dko muscle hinged upon the additional presence of both a nuclear and cytosolic form of the protein. Finally, we examined the neuromuscular junction (NMJ) protein, Calmodulin-associated serine/threonine kinase (CASK) in the cellular components of the NMJ. CASK exhibits a developmentally regulated localization in the C2C12 myogenic cell line. It is observed in the nuclei of proliferating myoblasts, but is excluded to the cytosol in differentiating myotubes. CASK also exhibits a nuclear presence in a motor neuron-neuroblastoma hybrid cell line suggesting a role in nuclei of neurons in the peripheral nervous system. Finally, we demonstrate that CASK does not co-cluster with acetylcholine receptors (AChR) in response to agrin or laminin treatment, suggesting a novel mechanism of recruitment to the NMJ. Understanding the development of the NMJ in normal skeletal muscle may provide insight into DMD and other neuromuscular diseases.
Author: Gisela Gaina
Publisher: BoD – Books on Demand
ISBN: 1839684747
Category : Technology & Engineering
Languages : en
Pages : 117
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Book Description
Muscular Dystrophy - Research Update and Therapeutic Strategies is for students, researchers, and clinicians interested in muscular dystrophies who want to improve their knowledge of these complex genetic diseases. The book includes information about the genetics of various types of muscular dystrophies as well as explores new and current therapeutic strategies that aim to ameliorate symptoms and improve patients’ quality of life and life expectancy. In addition, this book reviews information on current clinical trials for muscular dystrophies and presents a framework for what to consider during the design of these trials.
Author: Pedro Miura
Publisher:
ISBN:
Category : University of Ottawa theses
Languages : en
Pages : 580
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Book Description
Author: Peter M. Tiidus
Publisher: Human Kinetics
ISBN: 9780736058674
Category : Muscles
Languages : en
Pages : 360
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Book Description
Attempts to cover a wide range of both basic research and applied clinical topics related to skeletal muscle damage and repair mechanisms and their application. This book examines muscle damage and repair mechanisms and issues in specific populations including older adults and special populations.
Author: Meghan Clare Hughes
Publisher:
ISBN:
Category :
Languages : en
Pages : 0
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Book Description
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease resulting from a mutation in the X-linked gene encoding the protein dystrophin. DMD is characterized by profound muscle weakness as degenerating muscle is replaced by fat and connective tissue. Early loss of ambulation followed by premature death due to cardiac and/or respiratory failure characterize the most debilitating aspects of DMD, a disease for which there is currently no cure. Limited success has been reported when treating DMD with gene based therapies. Current standard of care involves glucocorticoids, which target a secondary cellular myopathy; inflammation. While this line of treatment has provided promising benefits, these drugs present a variety of negative side effects for patients. As such, extensive research has been focused on identifying both therapeutic targets and corresponding novel therapies for the treatment of the DMD myopathy. The focus of this dissertation was to first determine the degree and precise mechanism of mitochondrial dysfunction in DMD followed by the evaluation of SBT-20, a mitochondrial-targeted peptide, as a therapeutic candidate for the treatment and prevention of DMD pathophysiology. In order to address these questions, we first comprehensively evaluated mitochondrial bioenergetics across a spectrum of oxidative and glycolytic muscles in the D2.B10-DMDmdx/2J mouse (D2.mdx) in early and late stages of disease progression. We then tested the efficacy of SBT-20 in improving both DMD myopathy in respiratory and skeletal muscles, as well as the underlying mechanism of mitochondrial dysfunction in dystrophic muscle. Our findings reveal that the mitochondrial H2O2 emission is elevated during impaired oxidative phosphorylation in cardiac, respiratory, oxidative and glycolytic muscle in young (4-week) and aged (52-week) D2.mdx mice and furthermore, that there is a specific defect in mtCK functionality in oxidative muscle. SBT-20 was effective in improving mitochondrial bioenergetics following short (4 weeks) and long (12 weeks) term treatment. This was associated with improved pathophysiology following short-term treatment. Taken together, this thesis identifies impairments in mitochondrial bioenergetics as a contributing factor to the pathophysiology in dystrophic muscle and further highlights SBT-20 as a promising therapy for the improvement of myopathy in DMD.
Author: Masanori P. Takahashi
Publisher: Springer
ISBN: 9789811344367
Category : Medical
Languages : en
Pages : 0
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Book 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.
