Molecular, Genetic, and Nutritional Aspects of Major and Trace Minerals

Molecular, Genetic, and Nutritional Aspects of Major and Trace Minerals Edited by James F. Collins AMSTERDAM • BOSTON • HEIDELBERG • LONDON • NEW ORK • OFORD • PARIS SAN DIEGO • SAN FRANCISCO • SINGAPORE • SDNE • TOKO Academic Press is an imprint of Elsevier Academic Press is an imprint of Elsevier 125 London Wall, London EC2Y 5AS, United Kingdom 525 B Street, Suite 1800, San Diego, CA 92101-4495, United States 50 Hampshire Street, 5th Floor, Cambridge, MA 02139, United States The Boulevard, Langford Lane, Kidlington, Oxford OX5 1GB, United Kingdom Copyright © 2017 Elsevier Inc. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. 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In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility. To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Library of Congress Cataloging-in-Publication Data A catalog record for this book is available from the Library of Congress British Library Cataloguing-in-Publication Data A catalogue record for this book is available from the British Library ISBN: 978-0-12-802168-2 For information on all Academic Press publications visit our website at <a href="/goto?url=https://www.elsevier.com/" target="_blank">https://www.elsevier.com/ </a>Publisher: Nikki Levy Acquisition Editor: Megan Ball Editorial Project Manager: Jaclyn Truesdell Production Project Manager: Lisa Jones Designer: Victoria Pearson Typeset by TNQ Books and Journals List of Contributors Abedalrazaq Alkukhun Yale University School of Ralph Marsland Duckworth Teesside University, <ul style="display: flex;"><li style="flex:1">Medicine, New Haven, CT, United States </li><li style="flex:1">Middlesbrough, United Kingdom; Newcastle University, </li></ul>Newcastle-upon-Tyne, United Kingdom Gregory Jon Anderson QIMR Berghofer Medical Research Institute, Australia Lynnette Robyn Ferguson University of Auckland, Auckland, New Zealand Tayze T. Antunes University of Ottawa, Ottawa, ON, Canada David Michael Frazer QIMR Berghofer Medical Research Institute, Australia Michael Aschner Albert Einstein College of Medicine, New York, NY, United States Toshiyuki Fukada Tokushima Bunri University, Tokushima, Japan; Showa University, Tokyo, Japan; RIKEN Center for Integrative Medical Sciences, Yokohama, Japan Terry J. Aspray Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom; Freeman Hospital, Newcastle upon Tyne, Tyne and Wear, United Kazuhisa Fukue Kyoto University, Kyoto, Japan Kingdom Priyanka V. Gangodkar GenePath Dx (Causeway Thomas Bartnikas Brown University, Providence, Rhode Healthcare Private Limited), Pune, India Island, United States Eduardo Garcia-Fuentes Institute of Biomedical Research of Malaga (IBIMA), Regional University Hospital, Malaga, Spain; CIBEROBN, Institute of Health Carlos III, Malaga, Spain Abdel A. Belaidi The University of Melbourne, Parkville, VIC, Australia Roberto Bravo-Sagua Universidad de Chile, Santiago, Chile Michael D. Garrick University at Buffalo, Buffalo, NY, United States Gregory A. Brent David Geffen School of Medicine at UCLA, Los Angeles, CA, United States John P. Geibel Yale University School of Medicine, New Haven, CT, United States George J. Brewer University of Michigan, Ann Arbor, MI, <ul style="display: flex;"><li style="flex:1">United States </li><li style="flex:1">Fayez K. Ghishan University of Arizona, Tucson, AZ, </li></ul>United States Mona S. Calvo U.S. Food and Drug Administration, Laurel, MD, United States Vadim N. Gladyshev Harvard Medical School, Boston, MA, United States Bradley Allen Carlson National Institutes of Health, Bethesda, MD, United States A. Grubman The University of Melbourne, Parkville, VIC, Australia Wen-Hsing Mississippi, MS, United States Sylvia Christakos Rutgers, The State University of Cheng Mississippi <ul style="display: flex;"><li style="flex:1">State </li><li style="flex:1">University, </li></ul>Thomas E. Gunter University of Rochester, Rochester, NY, United States New Jersey, New Jersey Medical School, Newark, NJ, Hajo Haase Berlin Institute of Technology, Berlin, United States Germany Mariana Cifuentes Universidad de Chile, Santiago, Chile Dolph Lee Hatfield National Institutes of Health, Bethesda, MD, United States James F. Collins University of Florida, Gainesville, FL, United States Ka He Indiana University, Bloomington, IN, United States Puneet Dhawan Rutgers, The State University of New Jersey, New Jersey Medical School, Newark, NJ, United Carolina Herrera Brown University, Providence, Rhode States Island, United States xiii xiv List of Contributors <ul style="display: flex;"><li style="flex:1">Kayo Ikuta Tokushima University, Tokushima, Japan </li><li style="flex:1">Thirayost Nimmanon Cardiff University, Cardiff, United </li></ul>Kingdom; Phramongkutklao College of Medicine, Bangkok, Thailand Francisco J. Rios University of Glasgow, Glasgow, Scotland Yukina Nishito Kyoto University, Kyoto, Japan Sami Judeeba Yale University School of Medicine, New Haven, CT, United States Tanara Vieira Peres Albert Einstein College of Medicine, New York, NY, United States Lillian J. Juttukonda Vanderbilt University Medical Center, Nashville, TN, United States Anne-Laure Perraud National Jewish Health, Denver, CO, United States; University of Colorado Denver, Denver, CO, United States Taiho Kambe Kyoto University, Kyoto, Japan Ichiro Kaneko Tokushima University, Tokushima, Japan Michael Pettiglio Brown University, Providence, Rhode Yujian James Kang Sichuan University, Chengdu, Sichuan, China; University of Louisville, School of Medicine, Louisville, KY, United States Island, United States Nikhil D. Phadke GenePath Dx (Causeway Healthcare Private Limited), Pune, India Nishi Karunasinghe University of Auckland, Auckland, Ananda S. Prasad Wayne State University School of New Zealand Medicine, Detroit, MI, United States Anuradha V. Khadilkar Jehangir Medical Research Vijayababu M. Radhakrishnan University of Arizona, Institute Jehangir Hospital, Pune, India Tucson, AZ, United States Pawel R. Kiela University of Arizona, Tucson, AZ, United Marcela Reyes Universidad de Chile, Santiago, Chile States Loren Warren Runnels Rutgers-Robert Wood Johnson Katerine S. Knust Universidade Federal do Estado do Rio Medical School, Piscataway, NJ, United States de Janeiro (UNIRIO), Rio de Janeiro, Brazil Carsten Schmitz University of Colorado Denver, Denver, CO, United States; National Jewish Health, Denver, CO, United States Mitchell D. Knutson University of Florida, Gainesville, FL, United States Yuko Komiya Rutgers-Robert Wood Johnson Medical Guenter Schwarz University of Cologne, Cologne, School, Piscataway, NJ, United States Germany Daniel Laubitz University of Arizona, Tucson, AZ, United Hiroko Segawa Tokushima University, Tokushima, Japan States Yatrik Madhukar Shah University of Michigan, Ann Sergio Lavandero Universidad de Chile, Santiago, Chile; University of Texas Southwestern Medical Center, Dallas, TX, United States Arbor, MI, United States Eric P. Skaar Vanderbilt University Medical Center, Nashville, TN, United States Xin Gen Lei Cornell University, Ithaca, NY, United States Laura Soldati Università degli Studi of Milan, Milan, Angela M. Leung UCLA David Geffen School of Medicine, Los Angeles, CA, United States; VA Greater Los Angeles Healthcare System, Los Angeles, CA, United States Italy Michael Stowasser The University of Queensland, School of Medicine, Brisbane, QLD, Australia Sawako Tatsumi Tokushima University, Tokushima, Japan Anna Milanesi David Geffen School of Medicine at UCLA, Los Angeles, CA, United States Kathryn M. Taylor Cardiff University, Cardiff, United Kingdom Ken-ichi Miyamoto Tokushima University, Tokushima, Japan Ryuta Tobe National Institutes of Health, Bethesda, MD, United States Augusto C. Montezano University of Glasgow, Glasgow, Scotland Rhian M. Touyz University of Glasgow, Glasgow, Scotland Stefano Mora IRCCS San Raffaele Scientific Institute, Milan, Italy Cari Lewis Tsinovoi Indiana University, Bloomington, IN, United States Armando Salim Munoz-Abraham Yale University School of Medicine, New Haven, CT, United States Petra Akiko Tsuji Towson University, Towson, MD, United States Forrest Harold Nielsen USDA, ARS, Grand Forks Human Nutrition Research Center, Grand Forks, ND, Jaime Uribarri The Icahn School of Medicine at Mount United States Sinai, New York, NY, United States List of Contributors xv <ul style="display: flex;"><li style="flex:1">Inés Velasco Hospital Riotinto, Huelva, Spain </li><li style="flex:1">A.R. White The University of Melbourne, Parkville, VIC, </li></ul>Australia Vaishali Veldurthy Rutgers, The State University of New Jersey, New Jersey Medical School, Newark, NJ, United Ying Xiao Sichuan University, Chengdu, Sichuan, China States Xiang Xue University of Michigan, AnnArbor, MI, United Giuseppe Vezzoli IRCCS San Raffaele Scientific Institute, States Milan, Italy Hironori Yamamoto Jin-ai University, Fukui, Japan Wen Yin Sichuan University, Chengdu, Sichuan, China John Bertram Vincent The University of Alabama, Tuscaloosa, AL, United States Wenjing Zhang Sichuan University, Chengdu, Sichuan, Tao Wang Sichuan University, Chengdu, Sichuan, China China Ran Wei Rutgers, The State University of New Jersey, FatemehVidaZohoori TeessideUniversity,Middlesbrough, New Jersey Medical School, Newark, NJ, United States United Kingdom Marianne Wessling-Resnick Harvard T.H. Chan School of Public Health, Boston, MA, United States Series Preface In this series on Molecular Nutrition, the editors of each book aim to disseminate important material pertaining to molecular nutrition in its broadest sense. The coverage ranges from molecular aspects to whole organs, and the impact of nutrition or malnutrition on individuals and whole communities. It includes concepts, policy, preclinical studies, and clinical investigations relating to molecular nutrition. The subject areas include molecular mechanisms, polymorphisms, SNPs, genomic wide analysis, genotypes, gene expression, genetic modifications, and many other aspects. Information given in the Molecular Nutrition series relates to national, international, and global issues. A major feature of the series that sets it apart from other texts is the initiative to bridge the transintellectual divide so that it is suitable for novices and experts alike. It embraces traditional and nontraditional formats of nutritional sciences in different ways. Each book in the series has both overviews and detailed and focused chapters. Molecular Nutrition is designed for nutritionists, dieticians, educationalists, health experts, epidemiologists, and healthrelated professionals such as chemists. It is also suitable for students, graduates, postgraduates, researchers, lecturers, teachers, and professors. Contributors are national or international experts, many of whom are from world-renowned institutions or universities. It is intended to be an authoritative text covering nutrition at the molecular level. Victor R. Preedy Series Editor xvii Chapter 1 Calcium-Sensing Receptor Polymorphisms and Human Disease Giuseppe Vezzoli1, Laura Soldati2, Stefano Mora1 1IRCCS San Raffaele Scientiﬁc Institute, Milan, Italy; 2Università degli Studi of Milan, Milan, Italy INTRODUCTION Circulating calcium ions can directly modulate cell activity in humans by means of a plasma membrane receptor that is sensitive to extracellular calcium, the calcium-sensing receptor (CaSR). CaSR was firstly cloned from bovine parathyroid cells in 1993 (Brown et al., 1992) and then in human parathyroid cells and renal tubular cells (Aida et al., 1995; Garrett et al., 1995). CaSR is a 1078-amino–acid protein that belongs to the third class of G-protein-coupled receptor (GPCR) family. It is expressed as a disulfide-linked homodimer in caveolin-rich areas of the plasma membrane, although it may also form heterodimers with other members of the GPCR family (Kifor et al., 1998). As an environmental sensor, CaSR elicits the paracrine or autocrine adaptive responses of human cells to changes in local or serum calcium concentrations. This adaptive response is fundamental for the physiological effect of parathyroid and kidney cells in human calcium homeostasis. The parathyroid glands and renal distal tubules are the tissues with the highest expression of CaSR, and its presence enables them to regulate calcium excretion and parathyroid hormone (PTH) secretion in response to serum calcium changes (Fig. 1.1). CaSR stimulation by the increase of serum calcium is followed by the inhibition of calcium reabsorption in the renal tubules and PTH secretion to restore normal serum calcium levels (Riccardi and Brown, 2010; Riccardi and Kemp, 2012). CaSR was also shown to be essential for osteoblast-mediated bone remodeling (Dvorak et al., 2004). Therefore CaSR is a key factor in calcium homeostasis (Riccardi and Kemp, 2012). The CaSR molecule includes a large bilobed Venus-flytrap–like extracellular domain of 612 amino acids, a sevenmembrane–spanning domain of 250 amino acids, and a C-terminal intracellular domain of 216 amino acids (Riccardi and Kemp, 2012). Calcium binding to the negatively charged residues in the pocket of the CaSR extracellular domain induces a conformational change of the CaSR molecule that causes the transmembrane and intracellular domains to activate intracellular signaling. Calcium ions are the main CaSR agonists, but CaSR also responds to other divalent (Ba, Cd, Co, Mg) and trivalent (Gd, La) cations and to polycationic compounds such as polyamines, aminoglycosides (neomycin, gentamycin), and polypeptides (poly-l-arginine, β-amyloid) (Riccardi and Kemp, 2012). The signaling cascade induced by CaSR activation is tissue specific and mediated by G-proteins (Fig. 1.2) (Magno et al., 2011). However, CaSR has also been identified in many organs not directly involved in calcium homeostasis and is now considered as ubiquitously expressed in mammalian cells. It has been implicated in insulin secretion, adipocyte metabolism, smooth muscle cell activity, and gastric function (Table 1.1), although its effects in these tissues is not as crucial as that in calcium-regulating organs (Riccardi and Kemp, 2012). The human CaSR gene (3q13.3–21) spans 103kb and comprises eight exons with two promoters, P1 and P2, having unknown functional differences (Fig. 1.3) (Canaff and Hendy, 2002). Loss-of-function mutations cause familial hypocalciuric hypercalcemia (FHH; OMIM #145980) in heterozygous patients and severe neonatal hyperparathyroidism (SNH; OMIM #239200) in homozygous patients (Hofer and Brown, 2003; Pearce et al., 1995). In these patients, CaSR cannot inhibit PTH production and renal tubular calcium reabsorption appropriately and patient phenotype is characterized by hypercalcemia and low calcium excretion. Serum PTH and calcium are slightly or moderately high in FHH, but severely high in SNH. SNH patients also develop bone demineralization and failure to thrive in the first 6months of life. Mutations of two other genes, GNA11 (19p13) and AP2S1 (19q13), may also cause FHH. Gain-of-function mutations of CaSR cause autosomal dominant hypercalcemia (ADH; OMIM #601198), a disorder characterized by high urinary calcium excretion and inappropriately low serum PTH and hypocalcemia. ADH in patients with highly activating mutations is associated with Bartter syndrome type 5 because of a urinary sodium and potassium leak resulting in renal hypokalemia (Vezzoli et al., 2006). Molecular, Genetic, and Nutritional Aspects of Major and Trace Minerals. <a href="/goto?url=http://dx.doi.org/10.1016/B978-0-12-802168-2.00001-4" target="_blank">http://dx.doi.org/10.1016/B978-0-12-802168-2.00001-4 </a>Copyright © 2017 Elsevier Inc. All rights reserved. 3|4PART I Calcium ,QFUHDVHꢀLQ VHUXPꢀFDOFLXP ,QFUHDVHꢀLQ ILOWHUHGꢀFDOFLXP &D65ꢀDFWLYDWLRQꢀLQ SUR[LPDOꢀWXEXOHV &D65ꢀDFWLYDWLRQꢀLQ GLVWDOꢀWXEXOHV &D65ꢀDFWLYDWLRQꢀLQ SDUDWK\URLGꢀJODQGV &D <ul style="display: flex;"><li style="flex:1">&D </li><li style="flex:1">&D </li><li style="flex:1">&D </li></ul>&D &D &D &D &D 3KRVSKDWH UHDEVRUSWLRQ ,QKLELWLRQꢀRIꢀFDOFLXP ULQHꢀDFLGLILFDWLRQ ,QKLELWLRQꢀRIꢀFDOFLXP 'HFUHDVHGꢀ37+ <ul style="display: flex;"><li style="flex:1">UHDEVRUSWLRQ </li><li style="flex:1">'LXUHWLFꢀ HIIHFW </li></ul><ul style="display: flex;"><li style="flex:1">UHDEVRUSWLRQ </li><li style="flex:1">VHFUHWLRQ </li></ul>'HFUHDVHꢀLQ VHUXPꢀFDOFLXP

Molecular, Genetic, and Nutritional Aspects of Major and Trace Minerals

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