Abstract |
Patients with spinal muscular atrophy (SMA) are susceptible to the respiratory infections and might be at a heightened risk of poor clinical outcomes upon contracting coronavirus disease 2019 (COVID-19). In the face of the COVID-19 pandemic, the potential associations of SMA with the susceptibility to and prognostication of COVID-19 need to be clarified. We documented an SMA case who contracted COVID-19 but only developed mild-to-moderate clinical and radiological manifestations of pneumonia, which were relieved by a combined antiviral and supportive treatment. We then reviewed a cohort of patients with SMA who had been living in the Hubei province since November 2019, among which the only 1 out of 56 was diagnosed with COVID-19 (1.79%, 1/56). Bioinformatic analysis was carried out to delineate the potential genetic crosstalk between SMN1 (mutation of which leads to SMA) and COVID-19/ lung injury-associated pathways. Protein- protein interaction analysis by STRING suggested that loss-of-function of SMN1 might modulate COVID-19 pathogenesis through CFTR, CXCL8, TNF and ACE. Expression quantitative trait loci analysis also revealed a link between SMN1 and ACE2, despite low-confidence protein- protein interactions as suggested by STRING. This bioinformatic analysis could give hint on why SMA might not necessarily lead to poor outcomes in patients with COVID-19.
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Authors | Zheng Li, Xingye Li, Jianxiong Shen, Haining Tan, Tianhua Rong, Youxi Lin, Erwei Feng, Zhengguang Chen, Yang Jiao, Gang Liu, Lin Zhang, Matthew Tak Vai Chan, William Ka Kei Wu |
Journal | Briefings in bioinformatics
(Brief Bioinform)
Vol. 22
Issue 2
Pg. 1291-1296
(03 22 2021)
ISSN: 1477-4054 [Electronic] England |
PMID | 33190150
(Publication Type: Journal Article)
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Copyright | © The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected]. |
Chemical References |
- SMN1 protein, human
- Survival of Motor Neuron 1 Protein
- ACE2 protein, human
- Angiotensin-Converting Enzyme 2
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Topics |
- Angiotensin-Converting Enzyme 2
(metabolism)
- COVID-19
(metabolism, virology)
- Disease Susceptibility
- Humans
- Muscular Atrophy, Spinal
(complications, metabolism, prevention & control)
- Protein Binding
- Protein Interaction Maps
- Renin-Angiotensin System
- SARS-CoV-2
(isolation & purification)
- Signal Transduction
- Survival of Motor Neuron 1 Protein
(genetics, metabolism)
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