Patient's dermal fibroblasts as disease markers for visceral myopathy
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Date
2023-05
Publication Type
Journal Article
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yes
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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.
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published
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Book title
Journal / series
Volume
148
Pages / Article No.
213355
Publisher
Elsevier
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Edition / version
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Date collected
Date created
Subject
Mechanobiology; Visceral myopathy; Cell morpho-mechanical phenotype
Organisational unit
03605 - Mazza, Edoardo / Mazza, Edoardo