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Antisense oligonucleotide therapy for spinocerebellar ataxia type 2
Open accessAbstract
There are no disease-modifying treatments for adult human neurodegenerative diseases. Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamine disease. Both models recreate the progressive adult-onset dysfunction and degeneration of a neuronal network that are seen in patients, including decreased firing frequency of cerebellar Purkinje cells and a decline in motor function. We developed a potential therapy directed at the ATXN2 gene by screening 152 antisense oligonucleotides (ASOs). The most promising oligonucleotide, ASO7, downregulated ATXN2 mRNA and protein, which resulted in delayed onset of the SCA2 phenotype. After delivery by intracerebroventricular injection to ATXN2-Q127 mice, ASO7 localized to Purkinje cells, reduced cerebellar ATXN2 expression below 75% for more than 10 weeks without microglial activation, and reduced the levels of cerebellar ATXN2. Treatment of symptomatic mice with ASO7 improved motor function compared to saline-treated mice. ASO7 had a similar effect in the BAC-Q72 SCA2 mouse model, and in both mouse models it normalized protein levels of several SCA2-related proteins expressed in Purkinje cells, including Rgs8, Pcp2, Pcp4, Homer3, Cep76 and Fam107b. Notably, the firing frequency of Purkinje cells returned to normal even when treatment was initiated more than 12 weeks after the onset of the motor phenotype in BAC-Q72 mice. These findings support ASOs as a promising approach for treating some human neurodegenerative diseases.
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“Due to the precision afforded by complementary binding of an ASO to its target transcript of interest, ASOs have emerged as an invaluable tool in specifically altering levels and/or processing of a variety of proteins involved in neurodegenerative diseases, most of which have been the disease-causing protein itself (38, 51–54).”
From Reduction of nemo-like kinase increases lysosome biogenesis and ameliorates TDP-43–related neurodegeneration (2023) · cites this paper as [54]
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Metadata
- Authors
- Scoles, D. R., Meera, P., Schneider, M. D., Paul, S., Dansithong, W., Figueroa, K. P., Hung, G., Rigo, F., Bennett, C. F., Otis, T. S., & Pulst, S. M.
- Affiliations
- University of Utah (US)
- University of California, Los Angeles (US)
- Ionis Pharmaceuticals (United States) (US)
- Corresponding author
- Scoles, Daniel R.
- Pulst, Stefan M.
- ORCID
- Venue
- Nature
- Published
- 2017-04-12
- Volume
- 544
- Issue
- 7650
- Pages
- 362-366
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC6625650
- OpenAlex
- W2606911774
- Cited by
- 319
- References
- 31
- Citations by year
- 2026: 17 · 2025: 24 · 2024: 26 · 2023: 28 · 2022: 39 · 2021: 37 · 2020: 37 · 2019: 43 · 2018: 45 · 2017: 21
- FWCI
- 19.55
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Target ALS
- National Institute of Neurological Disorders and Stroke (U01NS103883, R01NS033123, R01NS090930, R21NS081182, RC4NS073009, R56NS033123, R01NS097903, R37NS033123, R21NS103009)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- spinocerebellar ataxia type 2, antisense oligonucleotides, ATXN2, polyglutamine expansion, Purkinje cells, TDP-43 aggregation, amyotrophic lateral sclerosis, RNA-targeted therapeutics, neurodegeneration, mouse model, motor function, lifespan
- MeSH terms
- Ataxin-2, Action Potentials, Animals, Disease Models, Animal, Female, Gene Expression Regulation, Humans, Male, Mice, Transgenic, Movement, Phenotype, Purkinje Cells, RNA, Messenger, Oligonucleotides, Antisense, Spinocerebellar Ataxias, Rotarod Performance Test, Mice
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