G Proteins, Receptors, and Disease

ISBN-13: 9781461272908 / Angielski / Miękka / 2012 / 324 str.

Allen M. Spiegel

Opis

"Theoretically, one should obtain essentially the same clinical picture from failure of an end-organ to respond to a hormone as from a decreased production or absence of said hormone. " With these words, Fuller Albright began his now classic paper describing a novel disease, pseudo hypoparathyroidism (PHP), and a novel concept, hormone resis tance as a cause of disease. Soon, other hormone resistance disorders such as nephrogenic diabetes insipidus (NDI) were recognized, and the concept was extended to resistance to other substances such as calcium ions in familial hypocalciuric hypercalcemia (FHH). Later, diseases characterized by excess rather than deficient hormone action such as McCune-Albright syndrome (MAS) and familial male precocious puberty (FMPP) were recognized to be caused by autonomous endocrine hyperfunction. Although many i vestigators provided careful and detailed descriptions of the clinical features of these and other related endocrine disorders, an understanding of pathogenesis proved elusive for many years. In just the past few years, we have gone from clinical description to a molecular understanding of these interesting disorders. This remarkable progress reflects a synthe sis of three distinct, but now overlapping, areas of biomedical research: the aforemen tioned recognition and careful clinical description of specific diseases, the elucidation of the basic mechanisms of signal transduction, and the application of the powerful tools of molecular biology and genetics. Fundamental studies on the mechanisms of hormone action by Rodbell and colleagues at NIH culminated in the discovery of a major signal transduction pathway involving heterotrimeric G proteins.

Recenzje

Winner of one of the Best 1998 Health Sciences Books Awards!
"The book meets the stated objective. . .[of] providing the reader with a complete review of the known molecular and genetic details of the G protein signal cascade and related diseases. . .Each chapter is truly a state-of-the-art description."4 Stars!-Doody's Health Sciences Book Review Journal

"...attractive in its presentation and well illustrated with good quality photographs. . .bibliographies are current and extensive. . .a pleasure to read. . .would complement every medical library and should be highly recommended to clinical and basic scientists."-European Journal of Endocrinology

"G Proteins, Receptors, and Disease is a volume worthy of a place on the bookshelf of anyone with a current interest in endocrine disease and GPCR-targeted approaches to therapeutics....it is refreshing to find a book that communicates just how much genomics-based research can accelerate understanding, not just of a discrete area of science, but of human disease."- Nature Medicine

Spis treści

Introduction to G-Protein-Coupled Signal Transduction and Human Disease,Allen M. Spiegel. Albright Hereditary Osteodystrophy, Pseudohypopara-thyroidism, and Gs Deficiency,Lee S. Weinstein. Gas-Activating Mutations: A Cause of Acromegaly, Thyroid Adenomas, Fibrous Dysplasia, and the McCune-Albright Syndrome,Allen M. Spiegel Ulcerative Colitis in Mice Lacking Gai2,Uwe Rudolph and Lutz Birnbaumer. G Proteins Regulating Insulin Action and Obesity: Analysis by Conditional, Targeted Expression of Antisense RNA in vivo, Craig C. Malbon, Patricia Galvin-Parton, Hsien-yu Wang, Jun Hua Guo, and Christopher M. Moxham. Ga12- and Ga13-Subunits of Heterotrimeric G Proteins: A Novel Family of Oncogenes, J. Silvio Gutkind, Omar A. Coso, and Ningzhi Xu Hypo- and Hyperthyroidism Caused by Mutations of the TSH Receptor, Gilbert Vassart. Disorders Caused by Mutations of the tropin/Choriogonadotropin Receptor Gene,Andrew Shenker. Inactivating and Activating Mutations of the FSH Receptor Gene, Ilpo T. Huhtaniemi. Nephrogenic Diabetes Insipidus and Vasopressin Receptor Mutations,Daniel G. Bichet. Disorders with Increased or Decreased Responsiveness to Extracellular Ca2+ Owing to Mutations in the Ca2+0-Sensing Receptor, Edward M. Brown, Martin Pollak, Mei Bai, and Steven C. Hebert. Constitutively Active PTH/PTHrP Receptors Cause Jansen's Metaphyseal Chondrodysplasia 205,Harald Jüppner. Mutation of the Growth Hormone-Releasing Hormone Receptor in the little Mouse, Kelly E. Mayo, Venita I. DeAlmeida, Kenneth C. Wu,and Paul A. Godfrey. Functional Variants of the MSH Receptor (MC1-R), Agouti, and Their Effects on Mammalian Pigmentation, Dongsi Lu, Carrie Haskell-Luevano, Dag Inge Vage, and Roger D. Cone. ACTH Resistance Syndromes, Constantine Tsigos and George P. Chrousos. Altering Adrenergic Signaling and Cardiac Function in Transgenic Mice, Walter J. Koch and Robert J. Lefkowitz. Dopamine Receptors in Human Disease: Lessons from Targeted Mouse Mutants, Domenico Accili, John Drago, andSara Fuchs. The b3-Adrenergic Receptor and Susceptibility to Obesity the Insulin Resistance Syndrome, and Noninsulin-Dependent Diabetes Mellitus, Jeremy Walston, Kristi Silver, and Alan R. Shuldiner.Index.

Blurb

More than a collection of review articles, G Proteins, Receptors, and Disease summarizes in depth the state of our knowledge today concerning not only how cells communicate via G-protein-coupled signal transduction processes, but also how defects in these proteins and their receptors can cause serious human disease involving many different organ systems. Written by leading investigators, each chapter describes in detail the structure and function of a particular G protein or receptor, outlines possible mutations, and discusses fully the molecular pathogenesis of associated diseases. Diagnostic and therapeutic implications are also discussed when relevant.

In its unique blend of cutting-edge basic science and clinical medicine, G Proteins, Receptors, and Disease offers deep insights into the physiological significance of this key signal transduction pathway, as well as into the molecular basis of diseases ranging from obesity to malignancy. The basic understanding of the complex signal transduction process achieved here provides a firm foundation for future efforts to prevent and cure these diseases.