Epidermolysis Bullosa is a set of genetically inherited conditions affecting 1 in
17,000 of the world's population. A fault in a gene causes the skin to be extremely
fragile. The layers of the skin do not adhere properly and painful widespread blisters
occur very easily.
One of the rarer and fortunately non lethal forms of EB is Junctional
Epidermolysis Bullosa associated with Pyloric Atrisea (PA - JEB). Here the blistering
occurs at the junction between the skin layers - ie between the dermis and the epidermis.
Recent research has shown that these blisters are due to the lack of a
cell adhesion molecule a 6 b 4 - integrin. Another research project funded by DebRA Europe
is investigating this further particularly in regard to the role of the protein BP180.
This is crucial in the development of gene therapy.
This project is investigating the role of a 3 b 1 - integrins in the
epidermal - dermal blister formation. There is evidence that mice deficient a 3 b 1 -
integrins display blisters strikingly similar to human EB. In addition initial
investigations prior to this project commencing found that out of a sample of 50 human EB
patients with various forms of EB, 10 displayed extremely low or no a 3 - integrin.
The aim of this project is to apply laboratory research findings to
screen a large number of human blistering diseases and reveal the precise role of a 3 b 1
in the cause of such life threatening diseases.
