Genetics of Bone Biology and Skeletal Disease

Edited by

Rajesh Thakker, 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, Professor of Medicine, Pediatrics, and Genetics, Washington University in St. Louis School of Medicine; Medical-Scientific Director, Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, USA
John Eisman, Director of Bone Research Program, Garvan Institute of Medical Research, Professor of Medicine, University of New South Wales, Australia
Takashi Igarashi, Department of Pediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai, Japan; past president of ISN and Japanese Pediatric Association

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.

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Hardbound, 634 Pages

Published: November 2012

Imprint: Academic Press

ISBN: 978-0-12-387829-8

Reviews

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) 2 D 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 worlds most expert bone biologists, clinicians and geneticists to provide a cutting-edge review of bone from a genetic perspective. It provides a well-written account of bone biology, genetic techniques in general, and their application to bone biology and therapeutics, both of common and esoteric conditions. It provides an accessible and comprehensive treatment of one of the most rapidly advancing areas of bone research today." --Prof Ian Reid, BSc, MBChB, MD, FRACP, FRSNZ, FRCP, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand

Part I: General Background to Bone Biology
1. Biology of Bone and Cartilage
2. Overview of Bone Structure and Strength
3. Overview of Joint and Cartilage Biology
4. Integrating Endocrine and Paracrine Influences on Bone: Lessons from Parathyroid Hormone and Parathyroid Hormone-related Protein
5. Energy Homeostasis and Neuronal Regulation of Bone Remodeling
6. Neuropeptide Y and Bone Regulation
7. Genome-wide Association Studies
8. Genomic Profiling in Bone
9. Copy Number Variation
10. Prospects of Gene Therapy
11. Pharmacogentics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook
12. Genetic Testing & Counselling
13. Mouse models: Approaches to Generating in vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis
14. Fetal Control of Calcium and Phosphate Homeostasis - Lessons from Mouse Models
15. Control of Skeletal Homeostasis during Pregnancy and Lactation - Lessons from Physiological Models
16. Osteogenesis Imperfecta
17. Osteoporosis Genes Identified by Genome-wide Association Studies
18. Osteoarthritis - Genetic Studies of Monogenic and Complex Forms
19. Pagets Disease
20. Heritable Disorders of RANKL, OPG, RANK and NF-KB Signalling
21. Skeletal Dysplasias
22. Hypophosphatasia
23. Sclerosing Bone Disorders
24. Fibrodysplasia (Myositis) Ossificans Progressiva
25. Hyperparathyroidism
26. Hypoparathyroidism
27. G s a, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome
28. Genetic disorders affecting PTH/PTHrP receptor function
29. Genetically Determined Disorders of the Calcium-Sensing Receptor
30. Multiple Endocrine Neoplasia Type 1 (MEN1)
31. Multiple Endocrine Neoplasia Type 2 (MEN2)
32. Heritable Renal Phosphate Wasting Disorders
33. Genetic Disorders of Vitamin D Synthesis and Action
34. Renal Fanconi Syndrome, Dent's Disease and Bartter's Syndrome
35. Inherited Magnesium Disorders
36. Genetic Hypercalciuria: A Major Risk Factor in Kidney Stones
David Bushinsky and Orson W. Moe

Genetics of Bone Biology and Skeletal Disease

Reviews

Contents