Research press release


Nature Biotechnology

Hope for spinal muscular atrophy



Brian Kasparたちはこれまでに、ある遺伝子をもつ特殊な遺伝子操作ウイルスを血液中に注射するだけで、マウス新生仔の脊髄運動神経細胞にその遺伝子を導入できることを明らかにしている。今回Kasparたちは、脊髄性筋萎縮症の研究者であるArthurBurghesと協同して、脊髄性筋萎縮症のモデルとして使われる系統のマウスに、この遺伝子操作ウイルスを使って運動ニューロン生存遺伝子を導入した。治療をしないと、この系統のマウスは約15日以内に死ぬ。これまでの実験的な治療法でも、生存期間は約45日に延びるだけだった。これに対して、今回報告された新しい遺伝子治療では、マウスは250日以上生存し、筋肉の機能も大幅に改善した。


A new therapeutic approach for spinal muscular atrophy is demonstrated in a mouse model in this week's Nature Biotechnology. Although further research is needed to determine whether the approach will be viable in human infants, the results are considered promising by spinal muscular atrophy experts.

Spinal muscular atrophy, a genetic disorder of infants, is caused by reduced function of the 'survival motor neuron' protein in nerve cells and leads to progressive muscle weakness and early death. Brian Kaspar and colleagues previously showed that a gene can be delivered to spinal motor nerve cells in newborn mice simply by injecting a specific engineered virus carrying the gene into the blood. Now, working with spinal muscular atrophy researcher Arthur Burghes, the Kaspar team has used the engineered virus to deliver the survival motor neuron gene to a strain of mouse that is used as a model of spinal muscular atrophy. Without treatment, these mice die within about 15 days, and previous experimental therapies had increased their survival to only about 45 days. In contrast, the new gene therapy outlined in this paper kept the mice alive for more than 250 days and substantially improved their muscle function.

As a first step in evaluating whether this approach could be translated to human infants, the authors injected the engineered virus carrying a fluorescent 'reporter' gene ― which is easy to track ― into a newborn cynomolgus monkey. They found that the fluorescent gene was successfully delivered to spinal motor nerve cells, suggesting that the therapy could work in non-human primates and, possibly, in humans.

doi: 10.1038/nbt.1610


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