Animal models of spinal muscular atrophy

Aloicia Schmid, Christine J. DiDonato*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

46 Scopus citations

Abstract

Spinal muscular atrophy, a common autosomal recessive motor neuron disorder, is caused by the loss of the survival motor neuron gene (SMN1). SMN2, a nearly identical copy gene, is present in all spinal muscular atrophy patients but differs by a critical nucleotide that alters exon 7 splicing efficiency. This results in low survival motor neuron protein levels, which are not enough to sustain motor neurons. SMN disruption has been undertaken in different organisms (yeast, nematode, fly, zebrafish, and mouse) in an attempt to model this disease and gain fundamental knowledge about the survival motor neuron protein. This review compares the various animal models generated to date and summarizes a research picture that reveals a pleiotropic role for survival motor neuron protein; this summary also points to unique requirements for survival motor neuron protein in motor neurons. It is hoped that these observations will aid in pointing towards complementary paths for therapeutic discovery research.

Original languageEnglish (US)
Pages (from-to)1004-1012
Number of pages9
JournalJournal of child neurology
Volume22
Issue number8
DOIs
StatePublished - Aug 2007

Keywords

  • Animal models
  • Spinal muscular atrophy
  • Survival motor neuron

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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