Mitochondrial DNA, Mitochondria, Disease and Stem Cells
This volume investigates how the mitochondrial genome is transmitted, segregated, and inherited. It starts by describing mtDNA mutations and deletions and how these impact on the offspring’s well-being. It progresses to discuss how mutations to the mtDNA-
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Series Editor Kursad Turksen
For further volumes: http://www.springer.com/series/7896
Justin C. St. John Editor
Mitochondrial DNA, Mitochondria, Disease and Stem Cells
Editor Justin C. St. John Center for Reproduction and Development Monash Institute of Medical Research Clayton VIC Australia
ISBN 978-1-62703-100-4 DOI 10.1007/978-1-62703-101-1
ISBN 978-1-62703-101-1
(eBook)
Springer New York Heidelberg Dordrecht London Library of Congress Control Number: 2012944380 Ó Springer Science+Business Media New York 2013 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Humana Press is a brand of Springer Springer is part of Springer Science+Business Media (www.springer.com)
Preface
The transmission of mutated and deleted mitochondrial DNA (mtDNA) from one generation to another through the maternal lineage can result in a series of diseases that, if not severely debilitating, are lethal. These diseases primarily arise through the inability of the affected cells to generate sufficient cellular energy, ATP. The number of diseases described has been increasing steadily over the last 20 years. The first chapter in this book describes the various mitochondrial diseases, their aetiologies and prevalences and provides a clinical approach to their diagnosis. We then concentrate on Complex I of the electron transfer chain and how deficiencies
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