Genetics of Bone Biology and Skeletal Disease

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.

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.

List of contents

Part I: General Background to Bone Biology

Biology of Bone and Cartilage
Brendan Boyce, Michael Zuscik, Lianping Xing

Overview of Bone Structure and Strength
Mary L. Bouxsein

Overview of Joint and Cartilage Biology
Frank Luyten and Rik JU Lories

Integrating Endocrine and Paracrine Influences on Bone: Lessons from Parathyroid Hormone and Parathyroid Hormone-related Protein
T. John Martin and Natalie A. Sims

Energy Homeostasis and Neuronal Regulation of Bone Remodeling
Gerard Karsenty, Mathieu Ferron and Franck Oury

Neuropeptide Y and Bone Regulation
Paul A. Baldock

Part II: General Background to Genetics

Genome-wide Association Studies
Matthew Brown and Emma L. Duncan

Genomic Profiling in Bone
Gabriela G. Loots and Bryan D. Hudson

Copy Number Variation
Hong-Wen Deng, Tie-Lin Yang, Yan Guo and Christopher J. Papasian

Prospects of Gene Therapy
Brendan Lee, Merry ZC Ruan and Kilian Guse

Pharmacogentics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook
Tuan V. Nguyen and John A. Eisman

Genetic Testing & Counselling
Ingrid A. Holm, Christina M. Jacobsen, Yiping Shen and Stephanie J. Brewster

Mouse models: Approaches to Generating in vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis
Sian E. Piret and Rajesh V. Thakker

Fetal Control of Calcium and Phosphate Homeostasis - Lessons from Mouse Models
Christopher S. Kovacs

Control of Skeletal Homeostasis during Pregnancy and Lactation - Lessons from Physiological Models
Christopher S. Kovacs

Part III: Disorders of Bone and Joint

Osteogenesis Imperfecta
Joan Marini and M. Helen Rajpar

Osteoporosis Genes Identified by Genome-wide Association Studies
Andre Uitterlinden and Fernando Rivadenerira

Osteoarthritis - Genetic Studies of Monogenic and Complex Forms
Ana M. Valdes

Paget's Disease
Stuart H. Ralston and Omar M.E. Albagha

Heritable Disorders of RANKL, OPG, RANK and NF-KB Signalling
Michael Whyte

Skeletal Dysplasias
William G. Cole

Hypophosphatasia
Michael P. Whyte

Sclerosing Bone Disorders
Bram Perdu and Wim Van Hul

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

Hyperparathyroidism
Andrew Arnold and Jessica Costa-Guda

Hypoparathyroidism
Rajesh V. Thakker

G s a, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome
Lee S. Weinstein, Allen M. Spiegel and Michael Collins

Genetic disorders affecting PTH/PTHrP receptor function
Harald Jueppner and Caroline Silve

Genetically Determined Disorders of the Calcium-Sensing Receptor
Edward M. Brown and Ogo I. Egbuna

Multiple Endocrine Neoplasia Type 1 (MEN1)
Rajesh V. Thakker

Multiple Endocrine Neoplasia Type 2 (MEN2)
Bruce Robinson, Rory Clifton-Bligh and Matti Gild

Part V: Vitamin D and Renal Disorders

Heritable Renal Phosphate Wasting Disorders
Marc K. Drezner

Genetic Disorders of Vitamin D Synthesis and Action
David Feldman, Peter Malloy and Walter L. Miller

Renal Fanconi Syndrome, Dent's Disease and Bartter's Syndrome
Olivier Devuyst and Takashi Igarashi

Inherited Magnesium Disorders
Scott J. Schurman, Dhruval Patel, Anil Singh and Steven J. Scheinman

Genetic Hypercalciuria: A Major Risk Factor in Kidney Stones
David Bushinsky and Orson W. Moe

Report

"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) 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 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

Product details

• Authors: Rajesh V. (EDT)/ Whyte Thakker
• Assisted by: John Eisman (Editor), John A. Eisman (Editor), Eisman John (Editor), Takashi Igarashi (Editor), Igarashi Takashi (Editor), Michael P. Whyte (Editor), R. V. Thakker (Editor), Rajesh V. Thakker (Editor), Michael P. Whyte (Editor)
• Publisher: Academic Press London
• Languages: English
• Product format: Hardback
• Release: 17.10.2012, delayed
• EAN: 9780123878298
• ISBN: 978-0-12-387829-8
• No. of pages: 648
• Series: Academic Press
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Clinical medicine; MEDICAL / Orthopedics, MEDICAL / Genetics, Musculoskeletal medicine, Medical Genetics