Saturday, March 16, 2013

The Genes……

Mutations in the COL7A1 gene cause all 3 major forms of Dystrophic Epidermolysis Bullosa [DEB]. This gene provides instructions for making a protein that is used to assemble ‘type VII collagen’. Collagens are molecules that give structure and strength to connective tissues such as skin, tendons and ligaments throughout the body. Type VII collagen plays an important role in strengthening and stabilizing the skin. It is the main component of 'Anchoring fibrils' which anchor the top layer of skin—Epidermis to underlying Dermis.

COL7A1 mutations alter the structure or disrupt the production of ‘type VII collagen’ which impairs its ability to help connect the epidermis to dermis. When type VII collagen is abnormal or missing, friction or other minor trauma cause the two skin layers to separate. This separation leads to the formation of blisters which can cause extensive scarring as they heal.

Researchers are working to determine how abnormalities of type VII collagen also underlie the increased risk of skin cancer seen in the severe form of Dystrophic Epidermolysis Bullosa [DEB].

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