University of Massachusetts 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The copyright holder for this preprint (which was not peer-reviewed) is the author/funder.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

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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