Genetics of Osteoporosis and Metabolic Bone Disease, The

Great strides have been made through molecular biology in uncovering the genetic component of many illnesses that until recently were not considered genetic disorders. In The Genetics of Osteoporosis and Metabolic Bone Disease, Michael J. Econs and a distinguished team of internationally renowned experts summarize and review these advances in the understanding of osteoporosis and metabolic bone disease. Topics range from an examination of the genetic contributions to osteoporosis and the many factors that must be considered when searching for genes that predispose to osteoporosis, to recent advances in the clinical and molecular biological aspects of inherited metabolic disorders. The diseases covered are both single gene (Mendelian) traits-such as X-linked hypophosphatemic rickets-and such complex disorders as osteoporosis and Paget's disease. The book includes a discussion of current methodology for finding genes that predispose to metabolic bone diseases. Authoritative and state-of-the-art, The Genetics of Osteoporosis and Metabolic Bone Disease offers today's endocrinologists, rheumatologists, and geneticists a gold-standard compendium of current knowledge and thinking about the genetic disorders of bone and mineral metabolism, and a sound basis for the powerful new genetic therapies. Front Matter....Pages i-xi Genetic and Environmental Determinants of Variance in Bone Size, Mass, and Volumetric Density of the Proximal Femur....Pages 1-27 How to Determine If, and by How Much, Genetic Variation Influences Osteoporosis....Pages 29-44 Vitamin D Receptor Gene Polymorphisms and Bone Mineral Homeostasis....Pages 45-60 Type I Collagen Polymorphisms and Osteoporosis....Pages 61-74 Osteogenesis Imperfecta....Pages 75-93 Vitamin D-Dependent Rickets Type I and Type II....Pages 95-110 Inherited Phosphate Wasting Disorders....Pages 111-132 X-Linked Nephrolithiasis/Dent’s Disease and Mutations in the ClC-5 Chloride Channel....Pages 133-152 Genetics of Tumoral Calcinosis....Pages 153-161 Fibrous Dysplasia and the McCune-Albright Syndrome....Pages 163-177 The Molecular Basis for Parathyroid Hormone Resistance in Pseudohypoparathyroidism....Pages 179-209 Fibrodysplasia Ossificans Progressiva....Pages 211-236 Disorders Resulting from Inactivating or Activating Mutations in the Ca 2+ 0 -Sensing Receptor....Pages 237-274 Multiple Endocrine Neoplasia Type 1 (MEN1)....Pages 275-294 The Ret Signaling System and Its Role in Hereditary Medullary Thyroid Carcinoma....Pages 295-308 Genetics of Paget’s Disease of Bone....Pages 309-318 Osteopetrosis....Pages 319-333 Hypophosphatasia....Pages 335-356 Jansen and Blomstrand....Pages 357-376 Genetic Linkage Analysis in Human Disease....Pages 377-413 The Identification of Disease Genes in a Candidate Region....Pages 415-429 Finding Mutations in Disease Genes....Pages 431-446 Back Matter....Pages 447-462 The explosive growth in the field of molecular biology over the last two decades has started to make a great impact on clinical medicine. Genes have been cloned for diseases that were poorly understood only a decade ago. Additionally, investigators are increasingly aware that there are strong genetic components to complex disorders, such as osteoporosis, that are not classically thought of as genetic disorders. New insights into the pathogenesis of metabolic bone diseases have been obtained from investigations into the molecular biology of these diseases and new therapies will become available based on these new insights. In The Genefies of Osteoporosis and Metabolie Bane Disease, I have assembled an internationally renowned group of experts to write the various chapters. Each of the authors is an expert in his/her field who is currently performing research on the content of their chapter and have made important contributions to the understanding of the clinical fea­ tures and pathophysiology of metabolic bone disease and genetics. The first part of The Genefies of Osteoporosis and Metabolie Bane Disease addresses issues related to genetic contributions to the development of osteoporosis and the many factors that must be considered when searching for genesthat predispose to osteoporosis. The second sec­ tion addresses recent advances in the clinical and molecular biological aspects of inherited metabolic bone disorders. The last section reviews the latest techniques for finding genes that predispose to metabolic bone diseases. Michael J. Econs and a distinguished team of internationally renowned experts summarize and review the latest understanding of the genetics of osteoporosis and metabolic bone disease. Topics range from an examination of the genetic contributions to osteoporosis and the many factors that must be considered when searching for genes that predispose to osteoporosis, to recent advances in the clinical and molecular biological aspects of inherited metabolic disorders. The diseases covered are both single-gene (Mendelian) traits-such as X-linked hypophosphatemic rickets-and such complex disorders as osteoporosis and Paget's disease. The book includes a discussion of current methodology for finding genes that predispose to metabolic bone diseases. Authoritative and state-of-the-art, The Genetics of Osteoporosis and Metabolic Bone Disease offers today's endocrinologists, rheumatologists, and geneticists a gold-standard compendium of current knowledge and thinking about the genetic disorders of bone and mineral metabolism, and a sound basis for powerful new genetic therapies. (Publisher's Description) The genetic and environmental factors responsible for age, gender and race specific differences in bone fragility and fracture rates of the proximal femur are unknown.