Gene Therapy Center; Department of Neurology
Bioinformatics | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Musculoskeletal Diseases | 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 potentially novel treatments to alleviate muscle pathology combining transcriptomics, proteomics, and perturbational data sets. This revealed potential drug candidates for repurposing in SMA. One of the candidates, harmine, was further investigated in cell and animal models, improving multiple disease phenotypes, including lifespan, weight, and key molecular networks in skeletal muscle. Our work highlights the potential of multiple and parallel data-driven approaches for the development of potentially novel treatments for use in combination with SMN restoration therapies.
Bioinformatics, Drug therapy, Genetic diseases, Muscle Biology, Neuroscience
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Copyright © 2021 Meijboom et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
DOI of Published Version
Meijboom KE, Volpato V, Monzón-Sandoval J, Hoolachan JM, Hammond SM, Abendroth F, de Jong OG, Hazell G, Ahlskog N, Wood MJ, Webber C, Bowerman M. Combining multiomics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy. JCI Insight. 2021 Jul 8;6(13):e149446. doi: 10.1172/jci.insight.149446. PMID: 34236053; PMCID: PMC8410072. Link to article on publisher's site
Meijboom K, Volpato V, Monzon-Sandoval J, Hoolachan JM, Hammond SM, Abendroth F, de Jong OG, Hazell G, Ahlskog N, Wood MJ, Webber C, Bowerman M. (2021). Combining multiomics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy. Open Access Publications by UMass Chan Authors. https://doi.org/10.1172/jci.insight.149446. Retrieved from https://escholarship.umassmed.edu/oapubs/4847
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
Bioinformatics Commons, Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Musculoskeletal Diseases Commons, Nervous System Diseases Commons, Neuroscience and Neurobiology Commons