UK scientists have discovered the link between people with the skin blistering disease Epidermolysis Bullosa Simplex-Dowling-Meara, (EBS -DM) - and tumour growth, according to research published in Journal of Investigative Dermatology today (Monday).
Recent research has shown that people with severe EBS have an increased risk of the skin cancer basal cell carcinoma compared with the general population, but scientists did not known why. EBS is caused by mutations in the skin structural protein keratin.
The researchers based at Cancer Research UK's Cell Structure Research Group at The University of Dundee compared tissue cultures of cells carrying severe keratin mutations with normal cells.
The scientists investigated the molecular events which take place after both sets of cells were damaged mechanically in the lab - to mimic the action of rubbing a person's skin, which is enough to cause blistering in people with EBS.
Damage to EBS-DM cells causes dramatic changes to cells' internal scaffolding made of keratin and called the intermediate filaments (IFs). For a long time scientists thought that IFs may play a role in tumour development since alterations in the cells' structural proteins have already been observed in tumours.
The investigations revealed for the first time that changes in IF structure activate an established cell signalling pathway responsible for cell growth and proliferation, called ERK.
Activated ERK switches on powerful survival signals to stop damaged cells entering programmed cell death - called apoptosis. This causes a greater incidence of tumours in people with EBS-DM because damaged cells continue to grow when normally they would die.