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Hypophosphatasia: A Systemic Skeletal Disorder Caused by Alkaline Phosphatase Deficiency

Hypophosphatasia: A Systemic Skeletal Disorder Caused by Alkaline Phosphatase Deficiency
Author: Hideo Orimo
Publisher:
Total Pages:
Release: 2018
Genre: Medicine
ISBN:
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Hypophosphatasia (HPP) is an inherited systemic bone disease caused by the deficiency of tissue-nonspecific alkaline phosphatase (TNAP). HPP is classified into six forms and the symptoms of HPP vary depending on the form. The pathophysiology of HPP is basically due to a defect of bone mineralization. TNAP is encoded by the ALPL gene, and the TNAP protein expressed in bone, kidney, liver, and neuronal cells and is linked to the cell membrane via a glycosylphosphatidylinositol anchor. TNAP is an ectoenzyme hydrolyzing phosphate compound such as inorganic pyrophosphate. TNAP plays an important role in mineralization of hard tissues. Defect of mineralization process causes hypomineralization of hard tissues, which leads to rickets or osteomalacia and dental manifestations. In addition, hypomineralization of the ribs results in respiratory failure in the severe forms, which is the main cause of death. Inheritance of HPP is autosomal recessive, but autosomal dominant cases have been reported in the milder forms. To date, a total of 335 mutations in the ALPL gene have been reported, and mutation sites are scattered throughout the gene. Recent development of enzyme replacement therapy has opened up a new vista on the treatment of this previously untreatable disease.

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
Author: Rajesh V. Thakker
Publisher: Academic Press
Total Pages: 880
Release: 2017-10-31
Genre: Science
ISBN: 0128041986
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Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Pathophysiology

Pathophysiology
Author: David C. Gaze
Publisher: BoD – Books on Demand
Total Pages: 226
Release: 2018-05-30
Genre: Medical
ISBN: 1789231809
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Pathophysiology is the convergence of pathology (the discipline of observed changes in a diseased state) with physiology (the mechanisms of systems operation). It represents the functional changes that occur because of injury or disease. This volume provides state-of-the-art up-to-date literature reviews on pathophysiological processes in a number of disease states. The book is organised methodically in a head-to-toe systems approach examining aspects of neuropathophysiology, endocrine pathophysiology, structural biology, renal pathophysiology and genitourinary pathophysiology. This short volume on pathophysiology is intended for general medical and biomedical students at both undergraduate and postgraduate levels. In addition, it is a useful short update of recent advances in research and translational biology to those working in academia or healthcare science.

Pediatric Bone

Pediatric Bone
Author: Francis H. Glorieux
Publisher: Academic Press
Total Pages: 885
Release: 2011-09-28
Genre: Medical
ISBN: 0123820405
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Pediatric osteology, a medical specialty that has come of age, has contributed to the understanding of adult bone diseases as well. This second edition reference updates the 2003 edition with more emphasis on management as well as new and revised contributions. Thirty chapters present basic information regarding bone development, tools and techniques for evaluation (including a new chapter on radiographic imaging), and the specifics of various diseases. The three editors are affiliated as follows: Francis H. Glorieux (McGill U., Canada), John M. Pettifor (Chir Hani Baragwanath Hospital, South Africa), and Harald Juppner (Harvard Medical School, US). Academic Press is an imprint of Elsevier. Annotation ©2012 Book News, Inc., Portland, OR (booknews.com).

Molecular and Genetic Basis of Renal Disease

Molecular and Genetic Basis of Renal Disease
Author: David B. Mount
Publisher: Elsevier Health Sciences
Total Pages: 604
Release: 2008-01-01
Genre: Medical
ISBN: 1416002529
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This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.

Mammalian Alkaline Phosphatases

Mammalian Alkaline Phosphatases
Author: José Luis Millan
Publisher: John Wiley & Sons
Total Pages: 337
Release: 2006-12-13
Genre: Science
ISBN: 3527607471
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A review and discussion of new knowledge on the structure and function of mammalian alkaline phosphatases (APs) gained over the last 25 years. It covers: * The structure, regulation and expression of the AP genes * The three-dimensional structure of APs and mutagenesis work that further defined the structural/functional domains of the isozymes * The phenotypic abnormalities of the different AP knockout mice * Our current understanding of the in vivo role of the AP isozymes. The book also describes the possible use of APs as therapeutic agents and therapeutic targets and the many uses of these enzymes in clinical medicine and in biotechnology.

Phosphatase Modulators

Phosphatase Modulators
Author: José Luis Millán
Publisher: Humana
Total Pages: 0
Release: 2016-08-23
Genre: Medical
ISBN: 9781493960316
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Driving further the research on mammalian alkaline phosphatase structure and function, Phosphatase Modulators collects expert contributions into one “how to” manual for basic scientists interested in initiating a drug discovery effort. While this book contains the traditional method chapters and some typical reviews on the structure and known functions of phosphatases, other contributions are meant to discuss approaches and alternatives useful in making “go/no-go” decisions in high throughput screening (HTS) and lead optimization campaigns. Many chapters focus on tissue-nonspecific alkaline phosphatase (TNAP) as well as protein phosphatases. Written for the highly successful Methods in Molecular Biology series, chapters in this volume include the kind of detail and key implementation advice that promotes reproducible results. Step-by-step and practical, Phosphatase Modulators offers a path to understanding many of the facets and complexities associated with undertaking a drug discovery effort and will serve as a roadmap to initiating those efforts.

Neuronal Tissue-Nonspecific Alkaline Phosphatase (TNAP)

Neuronal Tissue-Nonspecific Alkaline Phosphatase (TNAP)
Author: Caroline Fonta
Publisher: Springer
Total Pages: 401
Release: 2015-07-28
Genre: Medical
ISBN: 9401771979
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Phosphatases, such as TNAP are fundamental in regulating the roles of cellular, and consequently numerous body functions. TNAP is a ubiquitous enzyme with a wide spectrum of substrates and specificity. Regulation at the cellular level and the lack of TNAP activity is a lethal condition. Recent findings of a highly specific regional, laminar and subcellular localization of TNAP in the cerebral cortex indicates that in addition to its metabolic and skeletal functions, TNAP also plays a role in regulating cerebral functions, most probably cognition. In fact, TNAP disturbance could result in complex diseases such as epilepsy, developmental retardation and Alzheimer's disease. Available data suggest that, regarding brain functions, TNAP is a potentially important target of clinical research. This book aims to provide an overview of our current understanding of the functions of TNAP in the brain and on other tissues and organs.

Therapeutic Enzymes: Function and Clinical Implications

Therapeutic Enzymes: Function and Clinical Implications
Author: Nikolaos Labrou
Publisher: Springer Nature
Total Pages: 388
Release: 2019-09-03
Genre: Science
ISBN: 981137709X
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Therapeutic enzymes exhibit fascinating features and opportunities, and represent a significant and promising subcategory of modern biopharmaceuticals for the treatment of several severe diseases. Research and drug developments efforts and the advancements in biotechnology over the past twenty years have greatly assisted the introduction of efficient and safe enzyme-based therapies for a range of both rare and common disorders. The introduction and regulatory approval of twenty different recombinant enzymes has enabled effective enzyme-replacement therapy. This volume aims to overview these therapeutic enzymes, focusing in particular on more recently approved enzymes produced by recombinant DNA technology. This volume is composed of four sections. Section 1 provides an overview of the production process and biochemical characterization of therapeutic enzymes, while Section 2 focuses upon the engineering strategies and delivery methods of therapeutic enzymes. Section 3 highlights the clinical applications of approved therapeutic enzymes, including aspects on their structure, indications and mechanisms of action. Together with information on these mechanisms, safety and immunogenicity issues and various adverse events of the recombinant enzymes used for therapy are discussed. Section 4, provides discussion on the prospective and future developments of new therapeutic enzymes. This book is aimed at academics, researchers and students undertaking advanced undergraduate/postgraduate programs in the biopharmaceutical/biotechnology area who wish to gain a comprehensive understanding of enzyme-based therapeutic molecules.

General Orthopaedics and Basic Science

General Orthopaedics and Basic Science
Author: Nikolaos K. Paschos
Publisher: Springer
Total Pages: 189
Release: 2019-03-04
Genre: Medical
ISBN: 3319921932
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This volume of the Orthopaedic Study Guide Series provides the foundation of general orthopedic and basic science. Chapters of this book cohere around three aspects of the musculoskeletal system, anatomy, physiology, and pathology. Next to basic principles, case reports underline key information relating to disorders, diagnosis, and treatment options. Written by leading experts, this volume is a concise guide designed as quick reference, thereby it presents a useful resource for orthopedic residents and fellows.