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Updated: Aug 7, 2025
Murine Dermal Fibroblast Isolation by FACS
Published on: January 7, 2016
Patient's dermal fibroblasts as disease markers for visceral myopathy
Federica Viti1, Francesca Micaela Pramotton2, Michela Martufi3
1Istituto di Biofisica - Consiglio Nazionale delle Ricerche, Via De Marini 16, 16149 Genova, Italy.
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.
Insights
Visceral myopathy (VSCM), a rare genetic disorder, presents diagnostic challenges. This study reveals cellular traction forces in fibroblasts as a potential non-specific biomarker for VSCM, aiding diagnosis and research.
Area of Science:
- Genetics
- Cell Biology
- Biophysics
Background:
- Visceral myopathy (VSCM) is a rare genetic disorder lacking specific pharmacological treatments.
- Diagnosis can be challenging due to overlapping symptoms with other gastrointestinal motility disorders.
- The most common VSCM form involves variants in the ACTG2 gene, affecting gamma-2 actin.
Purpose of the Study:
- To investigate the morpho-mechanical phenotype of human dermal fibroblasts in VSCM patients.
- To identify potential non-specific biomarkers for VSCM diagnosis.
- To explore the utility of cellular biophysical traits in understanding VSCM.
Main Methods:
- Analysis of morpho-mechanical properties of human dermal fibroblasts from VSCM patients and controls.
- Evaluation of various biophysical traits, including cellular traction forces.
- Comparison of disease signatures between patient and control fibroblast populations.
Main Results:
- VSCM patient fibroblasts exhibit a distinct morpho-mechanical phenotype compared to controls.
- Cellular traction force measurements serve as a non-specific indicator of VSCM.
- The findings highlight VSCM as a mechano-biological disorder affecting enteric smooth muscle contractility.
Conclusions:
- Cellular traction force assays represent a promising, simple method for VSCM detection.
- This approach could support clinical decision-making and advance pre-clinical research for VSCM.
- Understanding the biophysical alterations in fibroblasts offers new insights into VSCM pathogenesis.
