Rossi, R;
Falzarano, MS;
Osman, H;
Armaroli, A;
Scotton, C;
Mantuano, P;
Boccanegra, B;
... Ferlini, A; + view all
(2021)
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.
Frontiers in Physiology
, 12
, Article 678974. 10.3389/fphys.2021.678974.
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Abstract
Duchenne muscular dystrophy (DMD) is a rare genetic disease due to dystrophin gene mutations which cause progressive weakness and muscle wasting. Circadian rhythm coordinates biological processes with the 24-h cycle and it plays a key role in maintaining muscle functions, both in animal models and in humans. We explored expression profiles of circadian circuit master genes both in Duchenne muscular dystrophy skeletal muscle and in its animal model, the mdx mouse. We designed a customized, mouse-specific Fluidic-Card-TaqMan-based assay (Fluid-CIRC) containing thirty-two genes related to circadian rhythm and muscle regeneration and analyzed gastrocnemius and tibialis anterior muscles from both unexercised and exercised mdx mice. Based on this first analysis, we prioritized the 7 most deregulated genes in mdx mice and tested their expression in skeletal muscle biopsies from 10 Duchenne patients. We found that CSNK1E, SIRT1, and MYOG are upregulated in DMD patient biopsies, consistent with the mdx data. We also demonstrated that their proteins are detectable and measurable in the DMD patients’ plasma. We suggest that CSNK1E, SIRT1, and MYOG might represent exploratory circadian biomarkers in DMD.
| Type: | Article |
|---|---|
| Title: | Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fphys.2021.678974 |
| Publisher version: | https://doi.org/10.3389/fphys.2021.678974 |
| Language: | English |
| Additional information: | © 2021 Rossi, Falzarano, Osman, Armaroli, Scotton, Mantuano, Boccanegra, Cappellari, Schwartz, Yuryev, Mercuri, Bertini, D’Amico, Mora, Johansson, Al-Khalili Szigyarto, De Luca and Ferlini. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10132752 |
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