TITLE

Of SMN in mice and men: a therapeutic opportunity

AUTHOR(S)
Swoboda, Kathryn J.
PUB. DATE
August 2011
SOURCE
Journal of Clinical Investigation;Aug2011, Vol. 121 Issue 8, p2978
SOURCE TYPE
Academic Journal
DOC. TYPE
commentary
ABSTRACT
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that predominantly affects motor neurons, resulting in progressive muscular atrophy and weakness. SMA arises due to insufficient survival motor neuron (SMN) protein levels as a result of homozygous disruption of the SMN1 gene. SMN upregulation is a promising and potent treatment strategy for this currently incurable condition. In this issue of the JCI, two independent research groups report novel observations in mouse models of severe SMA that provide hope that this approach will afford meaningful benefit to individuals with SMA.
ACCESSION #
63801892

 

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