Skip to content

Modifying genes in phenotypically discordant siblings with RDEB: role of signalling pathways regulating wound healing and inflammation (Zambruno 1)

Project lead Prof Giovanna Zambruno
Organisation IDI - Insstituto Dermopatico dell'Immacolata, Rome, ITALY
Project budget EUR 102,690.00
Start date / Duration 01. Jan 2011 / 24 months
Funder(s) / Co-Funder(s) DEBRA UK, MSAP/EBEP Recommended
Research area Symptom prevention & relief

Project details

Short lay summary

The observation that siblings with recessive dystrophic epidermolysis bullosa (RDEB) can manifest different degrees of disease severity indicates that, besides mutations in the gene coding for collagen VII (COL7A1), additional genes (modifier genes) make a substantial contribution to RDEB course. Controlling the activity of these genes could represent a way to improve RDEB manifestations and course.


What did this project achieve?

Aim of this study was to identify putative modifier genes by comparing the gene activity present in the skin and skin cells of two RDEB identical twins presenting similar collagen VII expression levels but marked differences in clinical manifestations. Preliminary results identified a group of genes that are more active in the less affected twin. These genes work together in controlling wound healing, inflammation and scarring, all phenomena that are altered in RDEB patients. Notably, the differences in expression in the twins are consistent with those in clinical manifestations. Our research activity was primarily aimed at confirming the differences found in gene expression between the two twins, in relating them to different cell behaviour and in testing the potential role of a candidate modifier gene, the protein decorin, in correcting the behaviour of the cells from the more affected twin.


Back to main navigation