Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

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Science Translational Medicine  31 Oct 2018:
Vol. 10, Issue 465, eaap8677
DOI: 10.1126/scitranslmed.aap8677

Improving vision in spinocerebellar ataxia

Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder caused by mutations in the ATAXIN-7 gene. SCA7 is characterized by impairments in coordination, balance, and speech and by retinal degeneration that results in complete blindness. Here, Niu et al. developed a strategy for treating visual impairments in SCA7 by inhibiting the mutated Ataxin-7 in the retina using antisense oligonucleotides (ASOs). Intravitreal injection of ASOs specifically targeting the mutated Ataxin-7 reduced protein expression in the retina and ameliorated pathology and vision loss in a SCA7 mouse model. The results suggest that ASOs targeting ATAXIN-7 might be effective in treating retinal degeneration in patients with SCA7.

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