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Exon skipping combats Batten disease

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The lysosomal storage disease CNL3 Batten disease is caused by mutations in CLN3, often resulting in deletion of exons 7 and 8, leading to a premature termination codon in exon 9. Here, Centa et al. develop antisense oligonucleotides (ASOs) that induce exon skipping of exon 5 and restore the open reading frame. Exon 5-targeted ASOs exerted robust exon skipping in cell lines derived from patients with CLN3 Batten disease. ICV injection of an exon 5-targeted ASO induced stable exon skipping for up to 14 months, lowered brain accumulation of subunit c of mitochondrial ATP synthase, rescued motor deficits and increased survival in mouse disease models.

Nature Reviews Drug Discovery 19, 588 (2020)

References

  1. 1.

    Centa, J. et al. Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease. Nat Med. https://doi.org/10.1038/s41591-020-0986-1 (2020)

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