Genetics of Bone Biology and Skeletal Disease

Comprehensive translational reference focusing on identifying and analysing the genetic basis of bone disorders in humans that will further the knowledge of mechanisms and evaluations in the treatment of bone disorders

Rajesh V. Thakker (Edited by), Michael P. Whyte (Edited by), John Eisman (Edited by), Takashi Igarashi (Edited by)

9780123878298

Hardback, published 11 December 2012

634 pages
27.6 x 21.5 x 3.5 cm, 2.02 kg

"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 BookNews.com, 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 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

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.

Part I: General Background to Bone Biology
1. Biology of Bone and Cartilage
Brendan Boyce, Michael Zuscik, Lianping Xing
2. Overview of Bone Structure and Strength
Mary L. Bouxsein
3. Overview of Joint and Cartilage Biology
Frank Luyten and Rik JU Lories
4. Integrating Endocrine and Paracrine Influences on Bone: Lessons from Parathyroid Hormone and Parathyroid Hormone-related Protein
T. John Martin and Natalie A. Sims
5. Energy Homeostasis and Neuronal Regulation of Bone Remodeling
Gerard Karsenty, Mathieu Ferron and Franck Oury
6. Neuropeptide Y and Bone Regulation
Paul A. Baldock

Part II: General Background to Genetics
7. Genome-wide Association Studies
Matthew Brown and Emma L. Duncan
8. Genomic Profiling in Bone
Gabriela G. Loots and Bryan D. Hudson
9. Copy Number Variation
Hong-Wen Deng, Tie-Lin Yang, Yan Guo and Christopher J. Papasian
10. Prospects of Gene Therapy
Brendan Lee, Merry ZC Ruan and Kilian Guse
11. Pharmacogentics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook
Tuan V. Nguyen and John A. Eisman
12. Genetic Testing & Counselling
Ingrid A. Holm, Christina M. Jacobsen, Yiping Shen and Stephanie J. Brewster
13. Mouse models: Approaches to Generating in vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis
Sian E. Piret and Rajesh V. Thakker
14. Fetal Control of Calcium and Phosphate Homeostasis – Lessons from Mouse Models
Christopher S. Kovacs
15. Control of Skeletal Homeostasis during Pregnancy and Lactation – Lessons from Physiological Models
Christopher S. Kovacs

Part III: Disorders of Bone and Joint
16. Osteogenesis Imperfecta
Joan Marini and M. Helen Rajpar
17. Osteoporosis Genes Identified by Genome-wide Association Studies
Andre Uitterlinden and Fernando Rivadenerira
18. Osteoarthritis – Genetic Studies of Monogenic and Complex Forms
Ana M. Valdes
19. Paget’s Disease
Stuart H. Ralston and Omar M.E. Albagha
20. Heritable Disorders of RANKL, OPG, RANK and NF-KB Signalling
Michael Whyte
21. Skeletal Dysplasias
William G. Cole
22. Hypophosphatasia
Michael P. Whyte
23. Sclerosing Bone Disorders
Bram Perdu and Wim Van Hul
24. Fibrodysplasia (Myositis) Ossificans Progressiva
Andria L. Culbert, Salin A. Chakkalakal, Michael R. Convente, Vitali Y. Lounev, Frederick S. Kaplan and Eileen M. Shore

Part IV: Parathyroid and Related Disorders
25. Hyperparathyroidism
Andrew Arnold and Jessica Costa-Guda
26. Hypoparathyroidism
Rajesh V. Thakker
27. Gsa, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome
Lee S. Weinstein, Allen M. Spiegel and Michael Collins
28. Genetic disorders affecting PTH/PTHrP receptor function
Harald Jueppner and Caroline Silve
29. Genetically Determined Disorders of the Calcium-Sensing Receptor
Edward M. Brown and Ogo I. Egbuna
30. Multiple Endocrine Neoplasia Type 1 (MEN1)
Rajesh V. Thakker
31. Multiple Endocrine Neoplasia Type 2 (MEN2)
Bruce Robinson, Rory Clifton-Bligh and Matti Gild

Part V: Vitamin D and Renal Disorders
32. Heritable Renal Phosphate Wasting Disorders
Marc K. Drezner
33. Genetic Disorders of Vitamin D Synthesis and Action
David Feldman, Peter Malloy and Walter L. Miller
34. Renal Fanconi Syndrome, Dent's Disease and Bartter's Syndrome
Olivier Devuyst and Takashi Igarashi
35. Inherited Magnesium Disorders
Scott J. Schurman, Dhruval Patel, Anil Singh and Steven J. Scheinman
36. Genetic Hypercalciuria: A Major Risk Factor in Kidney Stones
David Bushinsky and Orson W. Moe

Subject Areas: Genetics [non-medical PSAK], Life sciences: general issues [PSA], Orthopaedics & fractures [MNS], Endocrinology [MJG], Medical genetics [MFN]