Gene Therapy Center
Nervous System Diseases | Neuroscience and Neurobiology
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss of survival motor neuron (SMN) protein. While SMN restoration therapies are beneficial, they are not a cure. We aimed to identify novel treatments to alleviate muscle pathology combining transcriptomics, proteomics and perturbational datasets. This revealed potential drug candidates for repurposing in SMA. One of the lead candidates, harmine, was further investigated in cell and animal models, improving multiple disease phenotypes, including SMN expression and lifespan. Our work highlights the potential of multiple, parallel data driven approaches for development of novel treatments for use in combination with SMN restoration therapies.
Neuroscience, Spinal muscular atrophy, survival motor neuron (SMN) protein, harmine, SMN restoration therapies, multi-omics
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The copyright holder for this preprint (which was not peer-reviewed) is the author/funder. It is made available under a CC-BY 4.0 International license.
DOI of Published Version
bioRxiv 2019.12.17.879353; doi: https://doi.org/10.1101/2019.12.17.879353. Link to preprint on bioRxiv service.
Meijboom K, Volpato V, Monzón-Sandoval J, Hoolachan JM, Hammond SM, Abendroth F, de Jong OG, Hazell G, Ahlskog N, Wood MJ, Webber C, Bowerman M. (2019). Combining multi-omics and drug perturbation profiles to identify novel treatments that improve disease phenotypes in spinal muscular atrophy. University of Massachusetts Medical School Faculty Publications. https://doi.org/10.1101/2019.12.17.879353. Retrieved from https://escholarship.umassmed.edu/faculty_pubs/1656
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This work is licensed under a Creative Commons Attribution 4.0 License.