Genetics of Bone Biology and Skeletal Disease

1st Edition

Editors: Rajesh Thakker Michael Whyte John Eisman Takashi Igarashi
Hardcover ISBN: 9780123878298
eBook ISBN: 9780123878304
Imprint: Academic Press
Published Date: 2nd November 2012
Page Count: 634
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This book 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 evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder.

Key Features

  • Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles.
  • Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease

    • Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays
    • For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.


    Primary: Academic, medical, and pharmaceutical researchers in bone biology, clinical genetics, rheumatology, endocrinology, osteology; Secondary: Clinicians who threat metabolic bone diseases and musculoskeletal disorders (endocrinologists, rheumatologists, osteologists) and offer genetic counseling.

    Table of Contents


    List of Contributors

    Part I: General Background to Bone Biology

    Chapter 1. Biology of Bone and Cartilage

    I. Introduction

    II. Osteoclasts

    III. Osteoblasts

    IV. Cartilage


    Chapter 2. Overview of Bone Structure and Strength

    I. Introduction

    II. Bone Biomechanics and the Determinants of Whole Bone Strength

    III. Contribution of Bone Geometry to Bone Strength

    IV. Age-Related Changes in Trabecular and Cortical Bone Microarchitecture

    V. Contribution of Bone Microarchitecture to Bone Strength

    VI. Contribution of Bone Structure to Fracture Risk in Humans

    VII. Summary


    Chapter 3. Overview of Joint and Cartilage Biology

    I. Introduction

    II. Joint Development

    III. Joint Anatomy

    IV. Joint Homeostasis

    V. Joint Disease

    VI. Joint Repair


    Chapter 4. Integrating Endocrine and Paracrine Influences on Bone: Lessons from Parathyroid Hormone and Parathyroid Hormone-related Protein

    I. Bone Remodeling and Modeling

    II. Parathyroid Hormone (PTH) and Parathyroid Hormone-Related Protein (PTHrP)

    III. PTHrP in Bone: Production in Osteoblasts

    IV. PTHrP Function in Bone: Lessons from PTHrP Null Mice

    V. Anabolic Actions of PTH and PTHrP

    VI. Endocrine PTH, Paracrine PTHrP: Relationships in Development and Postnatal Life

    VII. Growth Factors in the Local Actions of PTH and PTHrP

    VIII. Are Osteoclasts Involved in the Anabolic Action of PTH?

    IX. GP130 Cytokines as Agents of Local Control of PTH Action

    X. Sclerostin as a Local Factor promoting PTH Action

    XI. Other Influences of PTH/PTHrP on Bone Through the Bone Marrow Microenvironment

    XII. The PTH–PTHrP Relationship in Vasculature and Bone

    XIII. Conclusion


    Chapter 5. Energy Home


    No. of pages:
    © Academic Press 2013
    Academic Press
    eBook ISBN:
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    About the Editor

    Rajesh Thakker

    Affiliations and Expertise

    May Professor of Medicine, Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UK

    Michael Whyte

    Affiliations and Expertise

    Professor of Medicine, Pediatrics, and Genetics, Washington University, School of Medicine; Medical-Scientific Director, Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, USA

    John Eisman

    Affiliations and Expertise

    Director of Bone Research Program, Garvan Institute of Medical Research, Professor of Medicine, University of New South Wales, Australia

    Takashi Igarashi

    Affiliations and Expertise

    Department of Pediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai, Japan


    "With the aims of identifying and analyzing the genetic basis of bone disorders in humans and of demonstrating the utility of mouse models, this volume presents 36 chapters that are inter-related, yet self-contained, with some overlap. Coverage is comprehensive."--Reference and Research, April 2013
    "The last ten years have witnessed an explosion in genomics and through its application to bone biology, the identification of novel potential targets for therapeutic interventions in bone diseases, such as osteoporosis. This textbook is therefore very timely and integrates a review of bone biology with the genetics of bone and joint disorders, parathyroid and related disorders, and vitamin D and renal diseases.
    The section on osteoporosis genes identified by genome-wide association studies is particularly useful and effectively summarises a subset of the at least 56 loci that have shown a robust association with BMD at genome-wide significant level and have been replicated. Although these genes explain only about 4% of the variation in BMD and cannot be used to improve fracture risk prediction, they have pinpointed many factors in critical molecular pathways in bone that provide promising candidates for novel therapeutic interventions.
    The section on genetic disorders of vitamin D synthesis and action elegantly shows how the study of affected children with 1a-hydroxylase deficiency and hereditary vitamin D resistant rickets continues to provide a more complete understanding of the biological role of 1,25(OH)2D in vivo.
    In conclusion, if you want to find one place to "bone up" on the genetics of skeletal disease, this is the book for you!"--Professor Peter R. Ebeling MD FRACP,
    The University of Melbourne, Melbourne, Australia
    "This book brings together the world’s most expert bone biologists, clinicians and geneticists to provide a cutting-edge review of bo