Nonmammalian Animal Models of Spinal Muscular Atrophy

P. O'Hern, E. L. Garcia, L. T. Hao, A. C. Hart, A. G. Matera, C. E. Beattie

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

7 Scopus citations

Abstract

Nonmammalian models of spinal muscular atrophy (SMA) have furthered our understanding of how loss of survival of motor neuron (SMN) protein leads to motor neuron defects. Well-conserved orthologs of SMN exist in Drosophila, Caenorhabditis elegans, and zebrafish. Loss of function mutations in these orthologs provide SMA models that display common neuromuscular phenotypes suggesting conserved function across species. These SMA models allow researchers to conduct large-scale screens, investigate specific cells with invariant lineages, and compare effects of orthologous protein loss across species. They have also advanced our knowledge of the cell-autonomous roles of SMN and of the impact of SMN loss on motor neuron development. Genetic and drug screens in nonmammalian models have contributed to the dissection of molecular pathways downstream of SMN providing avenues for future therapeutic approaches. This chapter describes the power of these models, their contribution to the SMA field, and their future potential for understanding SMA.

Original languageEnglish
Title of host publicationSpinal Muscular Atrophy
Subtitle of host publicationDisease Mechanisms and Therapy
Pages221-239
Number of pages19
ISBN (Electronic)9780128036860
DOIs
StatePublished - 2017

Bibliographical note

Publisher Copyright:
© 2017 Elsevier Inc. All rights reserved.

Keywords

  • Caenorhabditis elegans
  • Drosophila
  • Genetic screens
  • Modifier screens
  • Motor neurons
  • Muscle
  • Spinal muscular atrophy
  • Survival motor neuron
  • Zebrafish

ASJC Scopus subject areas

  • General Medicine
  • General Neuroscience

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