Mitochondrial Disorders Biochemical and Molecular Analysis
Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate
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IN
MOLECULAR BIOLOGY™
Series Editor John M. Walker School of Life Sciences University of Hertfordshire Hatfield, Hertfordshire, AL10 9AB, UK
For further volumes: http://www.springer.com/series/7651
Mitochondrial Disorders Biochemical and Molecular Analysis
Edited by
Lee-Jun C. Wong Mitochondrial Diagnostic Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Editor Lee-Jun C. Wong, Ph.D. FACMG Clinical Molecular Genetics and Clinical Biochemical Genetics Professor, Department of Molecular and Human Genetics Director, Mitochondrial Diagnostic Laboratory Baylor College of Medicine One Baylor Plaza, NAB 2015 Houston, Texas 77030, USA [email protected]
ISSN 1064-3745 e-ISSN 1940-6029 ISBN 978-1-61779-503-9 e-ISBN 978-1-61779-504-6 DOI 10.1007/978-1-61779-504-6 Springer New York Dordrecht Heidelberg London Library of Congress Control Number: 2011943084 © Springer Science+Business Media, LLC 2012 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Humana Press, c/o Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. Printed on acid-free paper Humana Press is part of Springer Science+Business Media (www.springer.com)
Preface A major function of mitochondria is the production of energy molecule ATP, by the way of electron transport chain and respiration, in a process called oxidative phosphorylation (OXPHOS). In order to carry out OXPHOS, the assembly of fully functional mitochondria requires the participation of approximately 1,500 genes encoded by both the mitochondrial and nuclear genomes. Thus, molecular defects in either of the two genomes may cause mitochondrial dysfunction, giving rise to either Mendelian or Matrilineal disorders. Each cell may contain hundreds to thousands of copies of the mitochondrial genome. Depending on the specific genetic defect, the distribution of the affected tissues, and the proportion of mutant to wild-type mitochondrial DNA (mtDNA) (termed heteroplasmy), the clinical manifestations of the disease are remarkably variable and heterogeneous. Therefore, for any given patient, establishing a diagnosis of a mitochondrial disorder can be very difficult. It requires an evaluation of the family pedigree, in conjunction with a thorough assessment of the clinical, histopathological, imaging, biochemical, and molecular features of the case. Given the breadth and complexity of the problem, these studies are usually provided by sev
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