Genetics of Bone Biology and Skeletal Disease

1st Edition

Print ISBN: 9780123878298
eBook ISBN: 9780123878304
Imprint: Academic Press
Published Date: 2nd November 2012
Page Count: 634
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Bone disorders are common and represent a major burden on health economic costs. Our understanding of bone development has had tremendous advances in the last ten year due primarily to focusing on genetics. For example, osteoporosis and related fractures are the leading cause of hospital admission in women over the age of 50 years, and >80% of adults over 55 years of age will suffer from osteoarthritis. Treatments of some metabolic disorders have been greatly improved by an increased understanding of bone biology which has been facilitated by advances in unravelling the genetics underlying bone disorders. These interactions between bone biology / physiology and genetics have also greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders.

The purpose of this book is to identify and analyse the genetic basis of bone disorders in humans and to demonstrate 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.

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


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"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