Correspondence
Transgenic-Mouse Model of Amyotrophic Lateral Sclerosis
N Engl J Med 1994; 331:1721-1722December 22, 1994
- Article
To the Editor:
The article by Dr. Brown (Oct. 20 issue)1 highlights the studies that my colleagues and I have performed with a transgenic model of human motor neuron disease.2 Our experiments built on the studies of Dr. Brown and other members of a multicenter group that identified mutations of copper-zinc superoxide dismutase in some patients with a dominantly inherited form of amyotrophic lateral sclerosis.3 In mice expressing mutant forms of human copper-zinc superoxide dismutase a progressive paralytic disease develops that causes death at four to five months of age. Symptoms are accompanied by vacuolar changes, mitochondrial cytopathologic changes, alterations in the neuronal cytoskeleton, and the eventual degeneration of motor neurons, principally in the spinal cord.4
The mouse model will allow the exploration of issues related to neurodegeneration, free-radical mechanisms of damage, and the selective vulnerability of specific types of neurons to disease. More important, as Brown emphasizes in his article, the mouse model should allow the rapid evaluation of potential treatments for the disease in humans. To that end, an important goal is to make these animals available to the research community as rapidly as possible.
Two mechanisms have been established for that purpose. First, the mutant mice have been deposited with the Induced Mutant Resource of the Jackson Laboratory, which has been designated by the National Institutes of Health as a national resource for transgenic and targeted mutant mice. (Contact John Sharp, Ph.D., supervisor, Induced Mutant Resource, Jackson Laboratory, 600 Main St., Bar Harbor, ME 04609-1500.) Second, the FALS Therapeutics Working Group has been established to foster the rapid evaluation of potential treatments by academic or corporate investigators in a collaborative format with the sharing of results. (Contact Norine Stirpe, Ph.D., FALS Therapeutics Working Group, Muscular Dystrophy Association, 3300 E. Sunrise Dr., Tucson, AZ 85718.)
4 ReferencesMark E. Gurney, Ph.D.
Northwestern University Medical School, Chicago, IL 606111
Brown RH . A transgenic-mouse model of amyotrophic lateral sclerosis. N Engl J Med 1994;331:1091-1092
Full Text | Web of Science | Medline2
Gurney ME ,Pu H ,Chiu AY , et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994;264:1772-1775
CrossRef | Web of Science | Medline3
Rosen DR ,Siddique T ,Patterson D , et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62
CrossRef | Web of Science | Medline4
Dal Canto MC, Gurney ME. The development of central nervous system pathology in a murine model of human amyotrophic lateral sclerosis. Am J Pathol (in press).
- Citing Articles (46)
Citing Articles
1
Mark Lindner, Robert McArthur. 2012. Overview of Mouse Models for Psychiatric and Neurologic Disorders. , 738-751.
CrossRef2
Matthew C. Evans, Michel Modo, Kevin Talbot, Niki Sibson, Martin R. Turner. (2011) Magnetic resonance imaging of pathological processes in rodent models of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis1-14
CrossRef3
Nizar Souayah, K. M. Coakley, R. Chen, Norman Ende, Joseph J. McArdle. (2011) Defective Neuromuscular Transmission in the SOD1G93A Transgenic Mouse Improves After Administration of Human Umbilical Cord Blood Cells. Stem Cell Reviews and Reports
CrossRef4
Bianca Heurich, Nawal Bahia el Idrissi, Rossen M. Donev, Susanne Petri, Peter Claus, James Neal, B. Paul Morgan, Valeria Ramaglia. (2011) Complement upregulation and activation on motor neurons and neuromuscular junction in the SOD1 G93A mouse model of familial amyotrophic lateral sclerosis. Journal of Neuroimmunology 235:1-2, 104-109
CrossRef5
Raquel Manzano, Janne M. Toivonen, Ana Cristina Calvo, Sara Oliván, Pilar Zaragoza, Maria Jesús Muñoz, Didier Montarras, Rosario Osta. (2011) Quantity and Activation of Myofiber-Associated Satellite Cells in a Mouse Model of Amyotrophic Lateral Sclerosis. Stem Cell Reviews and Reports
CrossRef6
Raquel Manzano, Janne M. Toivonen, Sara Oliván, Ana C. Calvo, Maria Moreno-Igoa, Maria J. Muñoz, Pilar Zaragoza, Alberto García-Redondo, Rosario Osta. (2011) Altered Expression of Myogenic Regulatory Factors in the Mouse Model of Amyotrophic Lateral Sclerosis. Neurodegenerative Diseases 8:5, 386-396
CrossRef7
Iga Wegorzewska, Robert H. Baloh. (2011) TDP-43-Based Animal Models of Neurodegeneration: New Insights into ALS Pathology and Pathophysiology. Neurodegenerative Diseases 8:4, 262-274
CrossRef8
Marina Bentivoglio, Raffaella Mariotti, Giuseppe Bertini. (2011) Neuroinflammation and brain infections: Historical context and current perspectives. Brain Research Reviews 66:1-2, 152-173
CrossRef9
Samer Abou Ezzi, Roxanne Larivière, Makoto Urushitani, Jean-Pierre Julien. (2010) Neuronal over-expression of chromogranin A accelerates disease onset in a mouse model of ALS. Journal of Neurochemistry 115:5, 1102-1111
CrossRef10
Antonello D’Arrigo, Davide Colavito, Emiliano Peña-Altamira, Michele Fabris, Mauro Dam, Antonio Contestabile, Alberta Leon. (2010) Transcriptional Profiling in the Lumbar Spinal Cord of a Mouse Model of Amyotrophic Lateral Sclerosis: A Role for Wild-Type Superoxide Dismutase 1 in Sporadic Disease?. Journal of Molecular Neuroscience 41:3, 404-415
CrossRef11
Duane D. Winkler, Mercedes Prudencio, Celeste Karch, David R. Borchelt, John Hart. 2010. Copper-Zinc Superoxide Dismutase, Its Copper Chaperone, and Familial Amyotrophic Lateral Sclerosis. , 381-401.
CrossRef12
Masatoshi Suzuki, Sandra Klein, Elizabeth A. Wetzel, Michael Meyer, Jacalyn McHugh, Craig Tork, Antonio Hayes, Clive N. Svendsen. (2010) Acute glial activation by stab injuries does not lead to overt damage or motor neuron degeneration in the G93A mutant SOD1 rat model of amyotrophic lateral sclerosis. Experimental Neurology 221:2, 346-352
CrossRef13
Phillip Nagley, Gavin C. Higgins, Julie D. Atkin, Philip M. Beart. (2010) Multifaceted deaths orchestrated by mitochondria in neurones. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1802:1, 167-185
CrossRef14
M. Prudencio, P. J. Hart, D. R. Borchelt, P. M. Andersen. (2009) Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease. Human Molecular Genetics 18:17, 3217-3226
CrossRef15
Jianjun Zhai, Xiaoyan Liu, Zhenyu Huang, Haining Zhu. (2009) RABA (Reductive Alkylation By Acetone): A novel stable isotope labeling approach for quantitative proteomics. Journal of the American Society for Mass Spectrometry 20:7, 1366-1377
CrossRef16
Maryse Letiembre, Yang Liu, Silke Walter, Wenlin Hao, Tatjana Pfander, Arne Wrede, Walter Schulz-Schaeffer, Klaus Fassbender. (2009) Screening of innate immune receptors in neurodegenerative diseases: A similar pattern. Neurobiology of Aging 30:5, 759-768
CrossRef17
Christine M. Wooley, Shuqin Xing, Robert W. Burgess, Gregory A. Cox, Kevin L. Seburn. (2009) Age, experience and genetic background influence treadmill walking in mice. Physiology & Behavior 96:2, 350-361
CrossRef18
Sungju Park, Hyoung-Tae Kim, Seokhwan Yun, Il-Sun Kim, Jiyoon Lee, Il-Shin Lee, Kook In Park. (2009) Growth factor-expressing human neural progenitor cell grafts protect motor neurons but do not ameliorate motor performance and survival in ALS mice. Experimental and Molecular Medicine 41:7, 487
CrossRef19
Jae Keun Lee, Jin Hee Shin, JaeHong Suh, In Sun Choi, Keun Sil Ryu, Byoung Joo Gwag. (2008) Tissue inhibitor of metalloproteinases-3 (TIMP-3) expression is increased during serum deprivation-induced neuronal apoptosis in vitro and in the G93A mouse model of amyotrophic lateral sclerosis: A potential modulator of Fas-mediated apoptosis. Neurobiology of Disease 30:2, 174-185
CrossRef20
Masatoshi Suzuki, Clive N. Svendsen. (2008) Combining growth factor and stem cell therapy for amyotrophic lateral sclerosis. Trends in Neurosciences 31:4, 192-198
CrossRef21
H.-J. Habisch, M. Janowski, D. Binder, M. Kuzma-Kozakiewicz, A. Widmann, A. Habich, B. Schwalenstöcker, A. Hermann, R. Brenner, B. Lukomska, K. Domanska-Janik, A. C. Ludolph, A. Storch. (2007) Intrathecal application of neuroectodermally converted stem cells into a mouse model of ALS: limited intraparenchymal migration and survival narrows therapeutic effects. Journal of Neural Transmission 114:11, 1395-1406
CrossRef22
Susanne Petri, Noel Y. Calingasan, Osama A. Alsaied, Elizabeth Wille, Mahmoud Kiaei, Jonathan E. Friedman, Oxana Baranova, Juan C. Chavez, M. Flint Beal. (2007) The lipophilic metal chelators DP-109 and DP-460 are neuroprotective in a transgenic mouse model of amyotrophic lateral sclerosis. Journal of Neurochemistry 102:3, 991-1000
CrossRef23
Hongyan Wang, Yingjun Guan, Xin Wang, Karen Smith, Kerry Cormier, Shan Zhu, Irina G. Stavrovskaya, Chunfeng Huo, Robert J. Ferrante, Bruce S. Kristal, Robert M. Friedlander. (2007) Nortriptyline delays disease onset in models of chronic neurodegeneration. European Journal of Neuroscience 26:3, 633-641
CrossRef24
V. Tucci, F. Achilli, G. Blanco, H.V. Lad, S. Wells, S. Godinho, P.M. Nolan. (2007) Reaching and grasping phenotypes in the mouse (Mus musculus): A characterization of inbred strains and mutant lines. Neuroscience 147:3, 573-582
CrossRef25
Shoichi Sasaki, Makiko Nagai, Masashi Aoki, Takashi Komori, Yasuto Itoyama, Makoto Iwata. (2007) Motor Neuron Disease in Transgenic Mice With an H46R Mutant SOD1 Gene. Journal of Neuropathology and Experimental Neurology 66:6, 517-524
CrossRef26
Suzanne Nguyen, Konstantinos Meletis, Dongdong Fu, Sonal Jhaveri, Rudolf Jaenisch. (2007) Ablation of de novo DNA methyltransferase Dnmt3a in the nervous system leads to neuromuscular defects and shortened lifespan. Developmental Dynamics 236:6, 1663-1676
CrossRef27
Liu Juan, Zang Dawei, Atkin D. Julie. (2007) Increased number and differentiation of neural precursor cells in the brainstem of superoxide dismutase 1<SUP>G93A</SUP> <SUP>G1H</SUP> transgenic mouse model of amyotrophic lateral sclerosis. Neurological Research 29:2, 204-209
CrossRef28
Heiko G. Niessen, Grazyna Debska-Vielhaber, Kerstin Sander, Frank Angenstein, Albert C. Ludolph, Liane Hilfert, Wieland Willker, Dieter Leibfritz, Hans-Jochen Heinze, Wolfram S. Kunz, Stefan Vielhaber. (2007) Metabolic progression markers of neurodegeneration in the transgenic G93A-SOD1 mouse model of amyotrophic lateral sclerosis. European Journal of Neuroscience 25:6, 1669-1677
CrossRef29
Daniele Lo Coco, Pietro Veglianese, Elisa Allievi, Caterina Bendotti. (2007) Distribution and cellular localization of high mobility group box protein 1 (HMGB1) in the spinal cord of a transgenic mouse model of ALS. Neuroscience Letters 412:1, 73-77
CrossRef30
Mazen J. Hamadeh, Mark A. Tarnopolsky. (2006) Transient caloric restriction in early adulthood hastens disease endpoint in male, but not female, Cu/Zn-SOD mutant G93A mice. Muscle & Nerve 34:6, 709-719
CrossRef31
Hanna Wootz, Inga Hansson, Laura Korhonen, Dan Lindholm. (2006) XIAP decreases caspase-12 cleavage and calpain activity in spinal cord of ALS transgenic mice. Experimental Cell Research 312:10, 1890-1898
CrossRef32
Jennifer R. Levy, Erika L.F. Holzbaur. (2006) Cytoplasmic dynein/dynactin function and dysfunction in motor neurons. International Journal of Developmental Neuroscience 24:2-3, 103-111
CrossRef33
Fujian Zhang, Haining Zhu. (2006) Intracellular conformational alterations of mutant SOD1 and the implications for fALS-associated SOD1 mutant induced motor neuron cell death. Biochimica et Biophysica Acta (BBA) - General Subjects 1760:3, 404-414
CrossRef34
Lucie I Bruijn, Merit Cudkowicz. (2006) Therapeutic targets for amyotrophic lateral sclerosis: current treatments and prospects for more effective therapies. Expert Review of Neurotherapeutics 6:3, 417-428
CrossRef35
P. Veglianese, D. Lo Coco, M. Bao Cutrona, R. Magnoni, D. Pennacchini, B. Pozzi, G. Gowing, J.P. Julien, M. Tortarolo, C. Bendotti. (2006) Activation of the p38MAPK cascade is associated with upregulation of TNF alpha receptors in the spinal motor neurons of mouse models of familial ALS. Molecular and Cellular Neuroscience 31:2, 218-231
CrossRef36
S. Petri, S. Schmalbach, J. Grosskreutz, K. Krampfl, C. Grothe, R. Dengler, L. Van Den Bosch, W. Robberecht, J. Bufler. (2005) The cellular mRNA expression of GABA and glutamate receptors in spinal motor neurons of SOD1 mice. Journal of the Neurological Sciences 238:1-2, 25-30
CrossRef37
Mazen J. Hamadeh, M. Christine Rodriguez, Jan J. Kaczor, Mark A. Tarnopolsky. (2005) Caloric restriction transiently improves motor performance but hastens clinical onset of disease in the Cu/Zn-superoxide dismutase mutant G93A mouse. Muscle & Nerve 31:2, 214-220
CrossRef38
Hanna Wootz, Inga Hansson, Laura Korhonen, Ulla Näpänkangas, Dan Lindholm. (2004) Caspase-12 cleavage and increased oxidative stress during motoneuron degeneration in transgenic mouse model of ALS. Biochemical and Biophysical Research Communications 322:1, 281-286
CrossRef39
Lucie I. Bruijn, Timothy M. Miller, Don W. Cleveland. (2004) UNRAVELING THE MECHANISMS INVOLVED IN MOTOR NEURON DEGENERATION IN ALS. Annual Review of Neuroscience 27:1, 723-749
CrossRef40
H. Volkel, M. Selzle, T. Walk, G. Jung, J. Link, A. C. Ludolph, A. Reuter. (2004) Reduced reactivation rate in mutant CuZnSOD and progression rate of amyotrophic lateral sclerosis. European Journal of Neurology 11:6, 397-404
CrossRef41
Peter Klivenyi, Mahmoud Kiaei, Gabrielle Gardian, Noel Y. Calingasan, M. Flint Beal. (2004) Additive neuroprotective effects of creatine and cyclooxygenase 2 inhibitors in a transgenic mouse model of amyotrophic lateral sclerosis. Journal of Neurochemistry 88:3, 576-582
CrossRef42
Carolina Muscoli, Salvatore Cuzzocrea, Dennis P Riley, Jay L Zweier, Christoph Thiemermann, Zhi-Qiang Wang, Daniela Salvemini. (2003) On the selectivity of superoxide dismutase mimetics and its importance in pharmacological studies. British Journal of Pharmacology 140:3, 445-460
CrossRef43
D Zang. (2002) Degeneration of corticospinal and bulbospinal systems in the superoxide dismutase 1G93A G1H transgenic mouse model of familial amyotrophic lateral sclerosis. Neuroscience Letters 332:2, 99-102
CrossRef44
Rebecca E. Williams, Mark R. Cookson, Anne E. Fray, Phillip M. Manning, Fiona M. Menzies, Denise A. Figlewicz, Pamela J. Shaw. (2001) Cultured glial cells are resistant to the effects of motor neurone disease-associated SOD1 mutations. Neuroscience Letters 302:2-3, 146-150
CrossRef45
Marcus Keep, Eskil Elmér, Keith S.K. Fong, Katalin Csiszar. (2001) Intrathecal cyclosporin prolongs survival of late-stage ALS mice. Brain Research 894:2, 327-331
CrossRef46
Mark E. Gurney, Frank B. Cutting, Ping Zhai, Adam Doble, Charles P. Taylor, Paula K. Andrus, Edward D. Hall. (1996) Benefit of vitamin E, riluzole, and gababapentin in a transgenic model of familial amyotrophic lateral sclerosis. Annals of Neurology 39:2, 147-157
CrossRef
