In an ideal scenario, the cure for epidermolysis bullosa should be able to replace the defective genes responsible. This should in turn restore proper protein function, so that the structural integrity of the skin can be restored. Ideally, the treatment should have cell, protein and gene therapy. Due to the fact that this condition is genetic, there is no way of preventing it but there are a few things one can do to be alert and informed of the situation. As early as 8 or 10 weeks of pregnancy, a test can be carried out for couples that have high risk of their child having the condition (autosomal recessive gene). This test is known as the chorionic villus sampling. Genetic counselling can also be recommended for parents with history of DEB.
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The severe form could lead to complications such as limited mobility as a result of scarring. Anaemia, muscular dystrophy and squamous cell cancers are also complications from DEB. In the mild form, only the skin is affected while in the severe form the internal linings of the body such as the stomach can be affected. 1.5 Genetic Basis of EB
The gene most closely associated with this condition is COL7A1. Mutations in this gene are the primary reason for EB. The COL7A1 gene encodes for the alpha 1 chain of type VII Collagen. This gene is a single nucleotide variant. It is located specifically on chromosome 3: base pairs 48,564,072 to 48,595,301. The normal function of COL7A1 is to present instructions for creating proteins that are used to group type VII collagen. Collagen is a major constituent in a group of proteins that help to strengthen and support connective tissues, tendons, ligaments and skin. Exclusively, VII collagen plays a fundamental part in strengthening and maintaining of the skin. The proteins that are formed from COL7A1 gene are known as pro-α1 (VII) chains. Three pro-α1 (VII) chains coil together to produce a triple-stranded, rope like molecule recognised
The severe form could lead to complications such as limited mobility as a result of scarring. Anaemia, muscular dystrophy and squamous cell cancers are also complications from DEB. In the mild form, only the skin is affected while in the severe form the internal linings of the body such as the stomach can be affected. 1.5 Genetic Basis of EB
The gene most closely associated with this condition is COL7A1. Mutations in this gene are the primary reason for EB. The COL7A1 gene encodes for the alpha 1 chain of type VII Collagen. This gene is a single nucleotide variant. It is located specifically on chromosome 3: base pairs 48,564,072 to 48,595,301. The normal function of COL7A1 is to present instructions for creating proteins that are used to group type VII collagen. Collagen is a major constituent in a group of proteins that help to strengthen and support connective tissues, tendons, ligaments and skin. Exclusively, VII collagen plays a fundamental part in strengthening and maintaining of the skin. The proteins that are formed from COL7A1 gene are known as pro-α1 (VII) chains. Three pro-α1 (VII) chains coil together to produce a triple-stranded, rope like molecule recognised