{Reference Type}: Journal Article
{Title}: Patient's dermal fibroblasts as disease markers for visceral myopathy.
{Author}: Viti F;Pramotton FM;Martufi M;Magrassi R;Pedemonte N;Nizzari M;Zanacchi FC;De Michele B;Alampi M;Zambito M;Santamaria G;Bajetto A;Sardar S;Tomati V;Gandullia P;Giampietro C;Florio T;Beltrame F;Vassalli M;Ceccherini I;
{Journal}: Biomater Adv
{Volume}: 148
{Issue}: 0
{Year}: May 2023
暂无{DOI}: 10.1016/j.bioadv.2023.213355
{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.