UMass Chan Medical School Faculty Publications
UMMS Affiliation
Gene Therapy Center
Publication Date
2019-12-18
Document Type
Article Preprint
Disciplines
Nervous System Diseases | Neuroscience and Neurobiology
Abstract
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.
Keywords
Neuroscience, Spinal muscular atrophy, survival motor neuron (SMN) protein, harmine, SMN restoration therapies, multi-omics
Rights and Permissions
The copyright holder for this preprint (which was not peer-reviewed) is the author/funder.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
10.1101/2019.12.17.879353
Source
bioRxiv 2019.12.17.879353; doi: https://doi.org/10.1101/2019.12.17.879353. Link to preprint on bioRxiv service.
Journal/Book/Conference Title
bioRxiv
Repository Citation
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 [preprint]. UMass Chan Medical School Faculty Publications. https://doi.org/10.1101/2019.12.17.879353. Retrieved from https://escholarship.umassmed.edu/faculty_pubs/1656
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.