Epidermolysis Bullosa is a set of genetically inherited
conditions affecting 1 in 17,000 of the 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. These can lead to increasing disfigurement, disability and in
the most severe forms death in early childhood.
The different forms of EB are caused by molecular abnormalities (mutations) in many
genes encoding the proteins which provide the strength to hold the layers of the skin
together at the junction between the dermis and the epidermis, called the cutaneous
basement membrane.
Abstract of Research
This project aims to establish the protein-protein interactions that are involved in
the assembly of hemidesmosomes. Genes encoding different components of hemidesmosomes have
been found to be mutated in various forms of hereditary bullous skin disorders.
Furthermore, these hemidesmosomal components often appeared to be targets for antibodies
in acquired bullous pemphigoid autoimmune diseases. Knowledge about the protein-protein
interactions is important because it gives essential information about how hemidesmosomes
assemble and thus may help to explain the devastating effects of the absence of a single
protein in this complex on the stability of the epidermal-dermal junctions. The results
obtained may provide the basis for specific gene therapy experiments and will clarify
whether abnormalities of other adhesion junctions may also be involved in such diseases.
