A gene expression and a histostructural analysis of the palmar fascia of patients affected by Dupuytren's disease

Abstract

Purpose: Dupuytren's disease (DD) is a condition affecting the palmar fascia that may reduce the mobility of several fingers. Despite its clinical relevance, the genetic and structural mechanisms associated with this disease are still not well understood. In this work, we have carried out a genome-wide gene expression analysis to identify relevant genes associated with DD.

Methods: A genome-wide gene expression analysis was carried out using next generation sequencing (NGS) followed by a histological, histochemical and immunohistochemical analysis of some major components of the palmar fascia in 26 DD patients and 17 control subjects without the disease (CTR).

Results: We found 237 genes or sequences differentially expressed between DD and CTR, with those genes corresponding to several gene pathways and functions related to contractility, development and morphogenesis, differentiation, extracellular matrix (ECM), migration and ossification. In turn, the histological analysis confirmed that DD tissues showed a disorganized ECM, with nonaligned fibers, and abundant cells were found scattered along the whole tissue. CTR showed significantly higher amounts of proteoglycans revealed by alcian blue, along with versican, keratan-sulfate, myoglobin, tropomyosin 3, filamin C and titin, whereas DD showed significantly enriched in collagen fibers, especially collagens type-I and V, MMP-14, S-100, tubulin-beta, SMA and tenascin C, with disorganization of the elastic fibers.

Conclusions: In general, these results confirm that a significant alteration of the tissue organization, extracellular matrix and structure is related to DD. These results could contribute to the future development of diagnostic and treatment strategies for this disease.