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Combining multi-omics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy

Meijboom, Katharina, Volpato, Viola, Monzón-Sandoval, Jimena, Hoolachan, Joseph, Hammond, Suzan, Abendroth, Frank, deJong, Olivier, Hazell, Gareth, Ahlskog, Nina, Wood, Matthew, Webber, Caleb and Bowerman, Melissa 2021. Combining multi-omics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy. JCI Insight 6 (13) , e149446. 10.1172/jci.insight.149446

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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 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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Additional Information: 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/.
Publisher: American Society for Clinical Investigation
ISSN: 2379-3708
Date of First Compliant Deposit: 26 May 2021
Date of Acceptance: 17 May 2021
Last Modified: 30 Jan 2022 12:04
URI: https://orca.cardiff.ac.uk/id/eprint/141578

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