Current Neurology and Neuroscience Reports

, Volume 10, Issue 2, pp 108–117

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

Article

DOI: 10.1007/s11910-010-0095-5

Cite this article as:
Park, GH., Kariya, S. & Monani, U.R. Curr Neurol Neurosci Rep (2010) 10: 108. doi:10.1007/s11910-010-0095-5

Abstract

Spinal muscular atrophy (SMA) is a common and often fatal neurodegenerative disease that primarily afflicts infants and young children. SMA is caused by abnormally low levels of the survival motor neuron (SMN) protein resulting from a combination of recessively inherited mutations in the SMN1 gene and the presence of an almost identical but partially functional copy gene, SMN2. Absence of the uniquely human SMN2 gene in SMA patients has never been reported because the SMN protein is indispensable for cell survival. Modeling SMA in animals therefore poses a challenge. This review describes the different strategies used to overcome this hurdle and model SMA in mice. We highlight new and emerging insights regarding SMA gained by studying the mice and illustrate how the animals serve as important tools to understand and eventually treat the human disease.

Keywords

Survival motor neuron Spinal muscular atrophy Mouse models Neurodegeneration 

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Gyu-Hwan Park
    • 1
    • 3
  • Shingo Kariya
    • 1
    • 3
  • Umrao R. Monani
    • 1
    • 2
    • 3
  1. 1.Department of NeurologyColumbia University Medical CenterNew YorkUSA
  2. 2.Department of Pathology & Cell BiologyColumbia University Medical CenterNew YorkUSA
  3. 3.Center for Motor Neuron Biology and DiseaseColumbia University Medical CenterNew YorkUSA

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