Cited by 688Neurogenetic and Muscular Disorders ResearchVirus-based gene therapy researchRNA Interference and Gene Delivery

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RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

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Foust, Kevin D, Wang, Xueyong, McGovern, Vicki L, Braun, Lyndsey, Bevan, Adam K, Haidet, Amanda M, Le, Thanh T, Morales, Pablo R, Rich, Mark M, Burghes, Arthur H M, Kaspar, Brian K·2010·Nature Biotechnology

DOI 10.1038/nbt.1610PMC PMC2889698

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Abstract

Spinal muscular atrophy (SMA), the most common autosomal recessive neurodegenerative disease affecting children, results in impaired motor neuron function. Despite knowledge of the pathogenic role of decreased survival motor neuron (SMN) protein levels, efforts to increase SMN have not resulted in a treatment for patients. We recently demonstrated that self-complementary adeno-associated virus 9 (scAAV9) can infect approximately 60% of motor neurons when injected intravenously into neonatal mice. Here we use scAAV9-mediated postnatal day 1 vascular gene delivery to replace SMN in SMA pups and rescue motor function, neuromuscular physiology and life span. Treatment on postnatal day 5 results in partial correction, whereas postnatal day 10 treatment has little effect, suggesting a developmental period in which scAAV9 therapy has maximal benefit. Notably, we also show extensive scAAV9-mediated motor neuron transduction after injection into a newborn cynomolgus macaque. This demonstration that scAAV9 traverses the blood-brain barrier in a nonhuman primate emphasizes the clinical potential of scAAV9 gene therapy for SMA.

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Authors: Foust, K. D., Wang, X., McGovern, V. L., Braun, L., Bevan, A. K., Haidet, A. M., Le, T. T., Morales, P. R., Rich, M. M., Burghes, A. H. M., & Kaspar, B. K.
Affiliations: Nationwide Children's Hospital (US)
Wright State University (US)
The Ohio State University (US)
Corresponding author: Kaspar, Brian K
ORCID: Foust, Kevin D
Wang, Xueyong
McGovern, Vicki L
Le, Thanh T
Morales, Pablo R
Rich, Mark M
Burghes, Arthur H M
Kaspar, Brian K
Venue: Nature Biotechnology
Publisher: Springer Science and Business Media LLC
Published: 2010-02-28
Volume: 28
Issue: 3
Pages: 271-274
ISSN: 0733-222X (ISSN-L)
1087-0156
1546-1696
DOI: 10.1038/nbt.1610
PMC: PMC2889698
OpenAlex: W2045117117
Cited by: 688
References: 30
Citations by year: 2026: 5 · 2025: 10 · 2024: 17 · 2023: 19 · 2022: 42 · 2021: 49 · 2020: 61 · 2019: 51 · 2018: 32 · 2017: 56 · 2016: 48 · 2015: 51 · 2014: 57 · 2013: 54 · 2012: 48
FWCI: 27.28
Type: journal article
Language: en
Status: Retracted
Update notices: retraction (2022-10-06)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Biotechnology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
CORE Scholar (Wright State University) (submittedVersion)
Journal of Bioresource Management (submittedVersion)
Funders: National Institute of Neurological Disorders and Stroke (R21NS064328, RC2NS069476, P30NS045758, P01NS057228, R01NS038650, F31NS058224)
Topics: Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
Keywords: spinal muscular atrophy, gene therapy, motor neurons, blood-brain barrier, cynomolgus macaques, mouse model, retraction
MeSH terms: Dependovirus, Animals, Animals, Newborn, Disease Models, Animal, Macaca fascicularis, Male, Mice, Transgenic, Microscopy, Fluorescence, Motor Neurons, Muscular Atrophy, Spinal, Phenotype, Gene Transfer Techniques, Green Fluorescent Proteins, Mice, Kaplan-Meier Estimate, Survival of Motor Neuron 1 Protein

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RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

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