Epidermolysis Bullosa Essay

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Epidermolysis bullosa can be a result of a mutation in one of ten genes (Varkie; et al., 2006). The most common mutations of epidermolysis bullosa simplex are associated with the K5 and K14 types of keratin. The K5 and K14 types of keratin are associated with very important intermediate filament proteins. When a mutation is present here, the basal keratinocytes become fragile and eventually rupture when acted upon mechanically. The K14 and K5 mutations are associated with epidermolysis simplex, which is the most common, but also the least dangerous to have (Coulombe; et al., 2009). These mutations lead to the inability of the skin layers to attach to one another. Dystrophic epidermolysis bullosa is most commonly affected by the type VII collagen …show more content…
This is because stem cells are responsible for the continuous regeneration of the epidermis. When a mutation in the LAM5 gene occurs, a highly fatal form of junctional epidermolysis bullosa is created. By using stem cells to create genetically correct skin grafts, patients were able to see relief from a functional self-renewing epidermis. After the application of a stem cell skin graft, patients saw continuous regeneration of the epidermis. This is due to the high levels of stem cells that are in the genetically modified skin grafts. By using immunofluorescence analysis, scientists were able to identify LAMB-β3 levels that were comparable to a normal person who does not suffer from epidermolysis bullosa. Immunofluorescence analysis is a method used to determine the location of antibodies or antigens in which the antibodies or antigens are labelled with a fluorescent dye. They are then looked at under a specialized type of …show more content…
A new treatment that has gained a footing as a proper treatment for epidermolysis is the use of tissue-engineered skin grafts, also called apligrafs. Apligrafs are bilayer skin equivalents which contains components found in both real epidermis and dermis skin (Falabella; et al., 2000). The apligrafs are also the only bilayer skin grafts approved by the Food and Drug Administration (Falabella; et al., 2000). This treatment is being heavily researched because treatment of epidermolysis bullosa, for the most part, only manages the symptoms. Also, the current treatments tend to be very slow, and they are known to fail. By using apligrafs, most patients were able to see skin regeneration in under six weeks. In the experiment, 15 patients were treated with apligrafs. Between all 15 patients, there were a total of 69 different acute wounds treated, and nine different chronic wounds treated. An important fact that should be noted first is that this treatment saw no acute graft rejection, and no immune reaction. For the experiment, three different treatment rounds were conducted. The first treatment occurred at week one. The second treatment occurred at week 6, and the final treatment occurred at week 12 (Falabella; et al.,

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