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Current Neurology and Neuroscience Reports
Erschienen in: Current Neurology and Neuroscience Reports 2/2010

01.03.2010

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

verfasst von: Gyu-Hwan Park, Shingo Kariya, Umrao R. Monani

Erschienen in: Current Neurology and Neuroscience Reports | Ausgabe 2/2010

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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.
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Metadaten
Titel
Spinal Muscular Atrophy: New and Emerging Insights from Model Mice
verfasst von
Gyu-Hwan Park
Shingo Kariya
Umrao R. Monani
Publikationsdatum
01.03.2010
Verlag
Current Science Inc.
Erschienen in
Current Neurology and Neuroscience Reports / Ausgabe 2/2010
Print ISSN: 1528-4042
Elektronische ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-010-0095-5

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