Gene Therapy for the COL7A1 Gene

Abstract

Epidermolysis bullosa (EB) is a genetically and clinically variable disease characterized by blis‐ ter formation and erosions of the skin and mucous membranes after minor trauma [1]. The in‐ heritance of the affected genes can occur in a dominant or recessive way depending on the subform of the disease. In general, epidermolysis bullosa is caused by mutations in genes en‐ coding structural proteins within the basal membrane zone of the skin. Absence or functional loss of one of these proteins results in a lack of stability of the microarchitecture of the connec‐ tion between dermis and epidermis leading to a loss of coherence [1]. The basement membrane between the dermis and the epidermis is a complex membrane produced by basal keratino‐ cytes and dermal fibroblasts that acts as mechanical support for the connection of both skin lay‐ ers. The basal membrane also regulates the metabolic exchange between the two skin compartments [2]. Up to date, there are at least 15 genes associated with EB causing different forms of the disease. Numerous mutations in these genes that encode for structural proteins within keratinocytes or within mucocutaneous basement membranes have been identified up to now [1].