Patient's dermal fibrolasts as disease markers for visceral myopathy

Viti, F. et al. (2023) Patient's dermal fibrolasts as disease markers for visceral myopathy. Biomaterials Advances, 148, 213355. (doi: 10.1016/j.bioadv.2023.213355)

Abstract

Visceral myopathy (VSCM) is a rare genetic disease, orphan of pharmacological therapy. VSCM diagnosis is not always straightforward due to symptomatology similarities with mitochondrial or neuronal forms of intestinal pseudo-obstruction. The most prevalent form of VSCM is associates with variants in the gene ACTG2, encoding the protein gamma-2 actin. Overall, VSCM is a mechano-biological disorder, in which different genetic variants lead to similar alterations to the contractile phenotype of enteric smooth muscles, resulting in the emergence of life-threatening symptoms. In this work we analyzed the morpho-mechanical phenotype of human dermal fibroblasts from patients affected with VSCM, demonstrating that they retain a clear signature of the disease when compared with different controls. We evaluated several biophysical traits of fibroblasts, and we show that a measure of cellular traction forces can be used as a non-specific biomarker of the disease. We propose that a simple assay based on traction forces could be designed to provide a valuable support for clinical decision or pre-clinical research.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Vassalli, Professor Massimo
• Authors: Viti, F., Pramotton, F. M., Martufi, M., Magrassi, R., Pedemonte, N., Nizzari, M., Zanacchi, F. C., De Michele, B., Alampi, M., Zambito, M., Santamaria, G., Bajetto, A., Sardar, S., Tomati, V., Gandullia, P., Giampietro, C., Florio, T., Beltrame, F., Vassalli, M., and Ceccherini, I.
• College/School: College of Science and Engineering > School of Engineering > Biomedical Engineering
• Journal Name: Biomaterials Advances
• Publisher: Elsevier
• ISSN: 2772-9516
• ISSN (Online): 2772-9508
• Published Online: 23 February 2023
• Copyright Holders: Copyright © 2023 The Authors
• First Published: First published in Biomaterials Advances 2023
• Publisher Policy: Reproduced under a Creative Commons License