Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

Yimin Hua, Kentaro Sahashi, Frank Rigo, Gene Hung, Guy Horev, C. Frank Bennett and Adrian R. Krainer ()
Additional contact information
Yimin Hua: Cold Spring Harbor Laboratory, PO Box 100
Kentaro Sahashi: Cold Spring Harbor Laboratory, PO Box 100
Frank Rigo: Isis Pharmaceuticals, 2855 Gazelle Court
Gene Hung: Isis Pharmaceuticals, 2855 Gazelle Court
Guy Horev: Cold Spring Harbor Laboratory, PO Box 100
C. Frank Bennett: Isis Pharmaceuticals, 2855 Gazelle Court
Adrian R. Krainer: Cold Spring Harbor Laboratory, PO Box 100

Nature, 2011, vol. 478, issue 7367, 123-126

Abstract: Talking antisense: rescue of SMN2 in motor neurone disease Spinal muscular atrophy (SMA) is a motor neurone disease caused by a mutation in a gene called SMN1 that is necessary for the survival of motor neurons. Humans have a duplicate gene, SMN2, but that is barely expressed. One promising form of therapy involves increasing SMN2 expression. It has been assumed that it would be necessary to increase the expression of SMN2 in spinal cord motor neurons to achieve a therapeutic effect. Not so. In a mouse model of SMA, subcutaneous, peripheral administration of an antisense oligonucleotide that corrects a splicing defect in SMN2 is shown to provide a much more powerful therapy than direct delivery to the brain. Surprisingly, peripheral rescue is found to be essential for long-term rescue of SMA, and biomarkers suggest that the liver has an important role of the liver in SMA pathogenesis.

Date: 2011
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DOI: 10.1038/nature10485

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