Molecular mechanisms and animal models of spinal muscular atrophy

Brittany M. Edens, Senda Ajroud-Driss, Long Ma, Yong Chao Ma*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

32 Scopus citations

Abstract

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is characterized by the degeneration of spinal motor neurons and muscle atrophy. Although the genetic cause of SMA has been mapped to the Survival Motor Neuron1 (SMN1) gene, mechanisms underlying selective motor neuron degeneration in SMA remain largely unknown. Here we review the latest developments and our current understanding of the molecular mechanisms underlying SMA pathogenesis, focusing on the animal model systems that have been developed, as well as new diagnostic and treatment strategies that have been identified using these model systems. This article is part of a special issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.

Original languageEnglish (US)
Pages (from-to)685-692
Number of pages8
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1852
Issue number4
DOIs
StatePublished - Apr 1 2015

Keywords

  • Animal disease models
  • C. elegans
  • Drosophila
  • SMA
  • SMN
  • Zebrafish

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

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