%0 Journal Article
%T Patient's dermal fibroblasts as disease markers for visceral myopathy.
%A Viti F
%A Pramotton FM
%A Martufi M
%A Magrassi R
%A Pedemonte N
%A Nizzari M
%A Zanacchi FC
%A De Michele B
%A Alampi M
%A Zambito M
%A Santamaria G
%A Bajetto A
%A Sardar S
%A Tomati V
%A Gandullia P
%A Giampietro C
%A Florio T
%A Beltrame F
%A Vassalli M
%A Ceccherini I
%J Biomater Adv
%V 148
%N 0
%D May 2023
%M 36893487
暂无%R 10.1016/j.bioadv.2023.213355
%X 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.