Advances in Experimental Medicine and Biology 1076 Masamitsu Yamaguchi E ditor Drosophila Models for Human Diseases Advances in Experimental Medicine and Biology Volume 1076 Editorial Board IRUN R. COHEN, The Weizmann Institute of Science, Rehovot, Israel ABEL LAJTHA, N.S. Kline Institute for Psychiatric Research, Orangeburg, NY, USA JOHN D. LAMBRIS, University of Pennsylvania, Philadelphia, PA, USA RODOLFO PAOLETTI, University of Milan, Milan, Italy NIMA REZAEI, Tehran University of Medical Sciences, Children’s Medical Center Hospital, Tehran, Iran More information about this series at http://www.springer.com/series/5584 Masamitsu Yamaguchi Editor Drosophila Models for Human Diseases Editor Masamitsu Yamaguchi Department of Applied Biology Kyoto Institute of Technology Kyoto, Japan ISSN 0065-2598 ISSN 2214-8019 (electronic) Advances in Experimental Medicine and Biology ISBN 978-981-13-0528-3 ISBN 978-981-13-0529-0 (eBook) https://doi.org/10.1007/978-981-13-0529-0 Library of Congress Control Number: 2018947577 © Springer Nature Singapore Pte Ltd. 2018 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. 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. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Printed on acid-free paper This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd. The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore Preface Fifteen years ago when I gave a talk on “Drosophila models for human dis- eases” to medical doctors, they were not particularly interested in this sub- ject. They said that even for mouse models it was hard to interpret the results, so that flies must be even more difficult. When I gave the equivalent talk to Drosophila communities at a similar time, they were also not very interested in the subject of “Drosophila models for human diseases.” They were more interested in basic biological and/or developmental processes and evolution- ary genetics. However, now the situation has dramatically changed. Facilities keeping transgenic and knockout mice are all full in many universities and institutes all over the world and medical scientists are starting to look for animal models that can substitute for, or complement, mouse models. The Drosophilists have also realized the great potential in using Drosophila mod- els for medical science. Drosophila is now attractive to scientists in various fields as a useful and highly tractable model organism for studying human diseases. Most biological pathways and physical and neurological properties are highly conserved between humans and Drosophila and nearly 75% of human disease-causing genes have a functional homologue in Drosophila. We can therefore Recycle the knowledge and data accumulated with Drosophila for studies of human diseases. The costs involved in experimenta- tion with Drosophila are relatively low (Reasonable price) compared to mouse and other rodent models. The life cycle and life-span of Drosophila are much shorter than that of the mouse so that researchers can perform experiments more Rapidly. Many genetic and experimental tools have been developed in Drosophila to examine gene function, genetic interactions, and environmental influences. Moreover, statistical analyses with large number of offspring in Drosophila can make the data obtained Reliable. The Drosophila model can thus provide a 4R platform for studies of human diseases. v vi Preface This book provides information about various Drosophila models for human diseases including Alzheimer’s disease, Parkinson’s disease, repeat expansion disease, amyotrophic lateral sclerosis, Charcot-Marie-Tooth dis- ease, muscular dystrophy, cancer, leukemia, diseases of replication/repair genes, diabetes, and so on. This knowledge is useful for scientists and gradu- ate students in the field of Applied Biology, Pharmaceutical Science, and Medicine. In the first chapter, specific and commonly used Drosophila tech- niques will be provided so that readers can easily understand the subsequent sections. In addition, for many of the following chapters, the authors provide a section dealing with protocols commonly used in their laboratories related to each subject. This is useful for beginners who want to start using Drosophila as a model for their studies on human disease. The last chapter introduces a unique approach by designers to develop a screening kit for medicine using the Drosophila model. This kind of multidisciplinary approach opens new possibilities for the studies of human diseases using Drosophila models. Finally, I would like to acknowledge the international grants that were helpful to establish international networks to produce this book. The JSPS Core-to-Core Program, Asia-Africa Science Platforms, the JSPS Program for Advancing Strategic International Networks to Accelerate the Circulation of Talented Researchers (Grant No. S2802), the JSPS Japan-UK collaborative research, the JSPS Japan-Vietnam collaborative research, and the JSPS Japan-Korea collaborative research. I would also like to acknowledge invalu- able help from Project Co-ordinator, Kripa Guruprasad and Project Manager, Kandrakota Maadhuri Kyoto Institute of Technology Masamitsu Yamaguchi Kyoto, Japan Contents 1 Drosophila as a Model Organism . . . . . . . . . . . . . . . . . . . . . . . . . 1 Masamitsu Yamaguchi and Hideki Yoshida 2 Adult Intestine Aging Model . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 Koji Takeda, Takashi Okumura, Kiichiro Taniguchi, and Takashi Adachi-Yamada 3 Alzheimer’s Disease Model System Using Drosophila . . . . . . . . 25 Leo Tsuda and Young-Mi Lim 4 Parkinson’s Disease Model . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 Vuu My Dung and Dang Thi Phuong Thao 5 Repeat Expansion Disease Models . . . . . . . . . . . . . . . . . . . . . . . 63 Morio Ueyama and Yoshitaka Nagai 6 Amyotrophic Lateral Sclerosis Model . . . . . . . . . . . . . . . . . . . . . 79 Yumiko Azuma, Ikuko Mizuta, Takahiko Tokuda, and Toshiki Mizuno 7 Drosophila Charcot-Marie-Tooth Disease Models . . . . . . . . . . . 97 Masamitsu Yamaguchi and Hiroshi Takashima 8 Drosophila as a Model to Gain Insight into the Role of lncRNAs in Neurological Disorders . . . . . . . . . . . . . . . . . . . . 119 Luca Lo Piccolo 9 Muscular Dystrophy Model . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 147 Saranyapin Potikanond, Wutigri Nimlamool, Jasprien Noordermeer, and Lee G. Fradkin 10 Drosophila As a Cancer Model . . . . . . . . . . . . . . . . . . . . . . . . . . . 173 Masato Enomoto, Carmen Siow, and Tatsushi Igaki 11 From Drosophila Blood Cells to Human Leukemia . . . . . . . . . . 195 Manon Boulet, Marion Miller, Laurence Vandel, and Lucas Waltzer vii viii Contents 12 Diseases Associated with Mutation of Replication and Repair Proteins . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 215 Sue Cotterill 13 Drosophila Models to Investigate Insulin Action and Mechanisms Underlying Human Diabetes Mellitus . . . . . . 235 Yoshihiro H. Inoue, Hiroka Katsube, and Yukiko Hinami 14 Metabolomics: State-of-the-Art Technologies and Applications on Drosophila melanogaster . . . . . . . . . . . . . . 257 Phan Nguyen Thuy An and Eiichiro Fukusaki 15 Humanized Flies and Resources for Cross-Species Study . . . . . 277 Toshiyuki Takano-Shimizu-Kouno and Takashi Ohsako 16 Designs for Flies + of Mice and Men: Design Approaches to Drosophila melanogaster. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 289 Julia Cassim, Frank Kolkman, and Marcel Helmer Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 307 About the Authors Takashi Adachi-Yamada received his PhD from Nagoya University and is a Professor in the Department of Life Science, Gakushuin University. Yumiko Azuma received her MD, PhD from Kyoto Prefectural University of Medicine and is an Assistant Professor at Kyoto Prefectural University of Medicine. Julia Cassim received her MPhil from the International Centre for Cultural and Heritage Studies, Newcastle University, and is a Professor at KYOTO Design Lab, Kyoto Institute of Technology. Sue Cotterill received her PhD from Imperial College, London, and is a Reader in Molecular Biology at St Georges University of London. Eiichiro Fukusaki received his PhD from Osaka University and is a Professor at Graduate School of Engineering, Osaka University. Tatsushi Igaki received his PhD from Osaka University and is a Professor at Graduate School of Biostudies, Kyoto University. Yoshihiro H. Inoue received his PhD from Waseda University and is an Associate Professor and Head of the Department of Insect Biomedical Research, Kyoto Institute of Technology. Yoshitaka Nagai received his MD, PhD from Osaka University and is a Professor at Graduate School of Medicine, Osaka University. Luca Lo Piccolo received his PhD from University of Palermo and is an Assistant Professor at Graduate School of Medicine, Osaka University. Saranyapin Potikanond received her MD from Chiang Mai University, MS from Free University of Brussels, and PhD from Leiden University Medical Center and is an Assistant Professor in the Department of Pharmacology, Chiang Mai University. ix