Chapter

Simple Animal Models

G. de Voer, C.A. Korey, L. Myllykangas, P.E.M. Taschner and R.I. Tuxworth

in The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Second edition

Published on behalf of Oxford University Press

Published in print March 2011 | ISBN: 9780199590018
Published online November 2012 | e-ISBN: 9780191753459 | DOI: http://dx.doi.org/10.1093/med/9780199590018.003.0016

Series: Contemporary Neurology Series

Simple Animal Models

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Biomedical researchers use simple animal models to obtain information about the function of proteins and the cellular processes they are involved in. The evolutionary conservation of gene function allows the extrapolation of this knowledge to more complex higher organisms to help unravel the mechanisms of human disease. Popular simple animal models are the nematode worm Caenorhabditis elegans and the fruit fly Drosophila melanogaster, which pair a well-studied nervous system with sophisticated genetics. In most cases, the biological function of the NCL proteins and how a mutation in these proteins causes disease remain unclear. Therefore, simple animal models may help to increase our understanding of the pathways important for development of NCL if the corresponding homologous genes have been identified. Of the human NCL proteins, only homologues to PPT1, CTSD, CLN3, and MFSD8/CLN7 are found in C. elegans and D. melanogaster (Chapter 19), making them important models for understanding the underlying molecular aetiology of CLN1, CLN10, CLN3, and CLN7 diseases (Taschner et al., 1997, Phillips et al., 2006). Studies of natural or genetically modified Clcn3, Clcn6, Clcn7, Ctsf, Ctsb, Ctsl, and Ostm1 mouse mutants suggest that disruption of these genes might also result in lysosomal accumulation of ceroid or lipofuscin, and these are, therefore, candidates for so far unidentified NCL genes (see Chapter 17). Homologues of these genes can also be found in worms and flies.

Chapter.  9490 words.  Illustrated.

Subjects: Neurology

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