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

Author

Listed:
  • 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)

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.

Suggested Citation

  • Yimin Hua & Kentaro Sahashi & Frank Rigo & Gene Hung & Guy Horev & C. Frank Bennett & Adrian R. Krainer, 2011. "Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model," Nature, Nature, vol. 478(7367), pages 123-126, October.
    • Handle: RePEc:nat:nature:v:478:y:2011:i:7367:d:10.1038_nature10485
    DOI: 10.1038/nature10485
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    Cited by:

    1. Sébastien Campagne & Daniel Jutzi & Florian Malard & Maja Matoga & Ksenija Romane & Miki Feldmuller & Martino Colombo & Marc-David Ruepp & Frédéric H-T. Allain, 2023. "Molecular basis of RNA-binding and autoregulation by the cancer-associated splicing factor RBM39," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    2. Yocelyn Recinos & Dmytro Ustianenko & Yow-Tyng Yeh & Xiaojian Wang & Martin Jacko & Lekha V. Yesantharao & Qiyang Wu & Chaolin Zhang, 2024. "CRISPR-dCas13d-based deep screening of proximal and distal splicing-regulatory elements," Nature Communications, Nature, vol. 15(1), pages 1-15, December.

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