Patient's dermal fibroblasts as disease markers for visceral myopathy.

Autor: Viti F; Istituto di Biofisica - Consiglio Nazionale delle Ricerche, Via De Marini 16, 16149 Genova, Italy. Electronic address: federica.viti@ibf.cnr.it., Pramotton FM; EMPA, Swiss Federal Laboratories for Materials Science and Technology, Ueberlandstrasse 129, 8600 Dübendorf, Switzerland; ETH Zurich, The Institute for Mechanical Systems, Leonhardstrasse 21, 8092 Zürich, Switzerland., Martufi M; Istituto di Biofisica - Consiglio Nazionale delle Ricerche, Via De Marini 16, 16149 Genova, Italy; Dipartimento Medicina Interna, Sezione di Farmacologia, Università di Genova, viale Benedetto XV, 2, 16132 Genova, Italy., Magrassi R; Istituto di Biofisica - Consiglio Nazionale delle Ricerche, Via De Marini 16, 16149 Genova, Italy., Pedemonte N; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gaslini 5, 16147 Genova, Italy., Nizzari M; Istituto di Biofisica - Consiglio Nazionale delle Ricerche, Via De Marini 16, 16149 Genova, Italy., Zanacchi FC; Department of Physics, University of Pisa, Largo Bruno Pontecorvo 3, 56127 Pisa, Italy., De Michele B; Istituto di Biofisica - Consiglio Nazionale delle Ricerche, Via De Marini 16, 16149 Genova, Italy., Alampi M; Department of Informatics, Bioengineering, Robotics and Systems Engineering, University of Genoa, Viale Causa, 13, 16145 Genova, Italy., Zambito M; Dipartimento Medicina Interna, Sezione di Farmacologia, Università di Genova, viale Benedetto XV, 2, 16132 Genova, Italy., Santamaria G; UOSD Laboratorio di Genetica e Genomica delle Malattie Rare, IRCCS Istituto Giannina Gaslini, Via Gaslini 5, 16147 Genova, Italy., Bajetto A; Dipartimento Medicina Interna, Sezione di Farmacologia, Università di Genova, viale Benedetto XV, 2, 16132 Genova, Italy., Sardar S; Centre for the Cellular Microenvironment, James Watt School of Engineering, University of Glasgow, Oakfield avenue, G128LT Glasgow, UK., Tomati V; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gaslini 5, 16147 Genova, Italy., Gandullia P; UOC Pediatric Gastroenterology and Digestive Endoscopy, IRCCS Istituto Giannina Gaslini, Via Gaslini 5, 16147 Genova, Italy., Giampietro C; EMPA, Swiss Federal Laboratories for Materials Science and Technology, Ueberlandstrasse 129, 8600 Dübendorf, Switzerland; ETH Zurich, The Institute for Mechanical Systems, Leonhardstrasse 21, 8092 Zürich, Switzerland., Florio T; Dipartimento Medicina Interna, Sezione di Farmacologia, Università di Genova, viale Benedetto XV, 2, 16132 Genova, Italy; IRCCS Ospedale Policlinico San Martino, Largo rosanna benzi 10, 16132 Genova, Italy., Beltrame F; Department of Informatics, Bioengineering, Robotics and Systems Engineering, University of Genoa, Viale Causa, 13, 16145 Genova, Italy., Vassalli M; Centre for the Cellular Microenvironment, James Watt School of Engineering, University of Glasgow, Oakfield avenue, G128LT Glasgow, UK., Ceccherini I; UOSD Laboratorio di Genetica e Genomica delle Malattie Rare, IRCCS Istituto Giannina Gaslini, Via Gaslini 5, 16147 Genova, Italy.
Jazyk: angličtina
Zdroj: Biomaterials advances [Biomater Adv] 2023 May; Vol. 148, pp. 213355. Date of Electronic Publication: 2023 Feb 23.
DOI: 10.1016/j.bioadv.2023.213355
Abstrakt: 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.
Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Federica Viti reports financial support was provided by Fondazione Alessandra Bono. Isabella Ceccherini reports financial support was provided by Fondazione Alessandra Bono. Costanza Giampietro reports financial support was provided by Swiss National Science Foundation.
(Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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