Model Systems for Spinocerebellar Ataxias: Lessons Learned About the Pathogenesis

Animal Models: An Overview

“…Although it contains only 302 neurons and does not have glial cells, basic cellular signaling mechanisms are conserved. Furthermore, the C. elegans genome contains orthologs of approximately 65% of the known human disease genes, including those for SCA, which are induced by polyQ expansion (Schmidt et al 2015). For example, the function of the human ataxin 2 orholog has been studied in C. elegans (Kiehl et al 2000).…”

“…Genetically, many genes essential for development are conserved between drosophila and humans. Homologs of more than 75% of human disease-associated genes have been identified in the Drosophila genome (Reiter et al 2001), although not all SCA-causing genes are conserved (Schmidt et al 2015). Genetic manipulation is simple and fast, and the targeted overexpression or knockdown of a particular gene is easy using the UAS/GAL4 expression system (Bellen et al 2010).…”