Published 2023
| Version v1
Publication
Patient's dermal fibroblasts as disease markers for visceral myopathy
Creators
- Viti, Federica
- Pramotton, Francesca Micaela
- Martufi, Michela
- Magrassi, Raffaella
- Pedemonte, Nicoletta
- Nizzari, Mario
- Zanacchi, Francesca Cella
- De Michele, Benedetta
- Alampi, Manuela
- Zambito, Martina
- Santamaria, Giuseppe
- Bajetto, Adriana
- Sardar, Sabah
- Tomati, Valeria
- Gandullia, Paolo
- Giampietro, Costanza
- Florio, Tullio
- Beltrame, Francesco
- Vassalli, Massimo
- Ceccherini, Isabella
Contributors
Others:
- Viti, Federica
- Pramotton, Francesca Micaela
- Martufi, Michela
- Magrassi, Raffaella
- Pedemonte, Nicoletta
- Nizzari, Mario
- Zanacchi, Francesca Cella
- De Michele, Benedetta
- Alampi, Manuela
- Zambito, Martina
- Santamaria, Giuseppe
- Bajetto, Adriana
- Sardar, Sabah
- Tomati, Valeria
- Gandullia, Paolo
- Giampietro, Costanza
- Florio, Tullio
- Beltrame, Francesco
- Vassalli, Massimo
- Ceccherini, Isabella
Description
: 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.
Additional details
Identifiers
- URL
- https://hdl.handle.net/11567/1109741
- URN
- urn:oai:iris.unige.it:11567/1109741
Origin repository
- Origin repository
- UNIGE