Xeroderma Pigmentosum is a very rare genetic defect affecting less than 1,000 people known worldwide. XP is a rare genetic defect in ultraviolet radiation induced DNA repair mechanisms and is life threatening because the DNA damage is cumulative and irreversible. This defect is characterized by severe sensitivity to all sources of UV radiation, specifically to sunlight. The wide range of symptoms include blindness and deafness, blistering or freckling on minimum sun exposure, dwarfism and hypergonadism. There is also possibility of mental retardation, an increase in the development of skin and eye cancers as well as other disabilities.
There is no cure for Xeroderma Pigmentosum. Management is limited to avoidance of exposure to damaging UV radiation by staying indoors with sunlight blocked out, and use of protective clothing, sunscreens and sunglasses. Management is furthermore attained through avoidance of all other known carcinogens. Xeroderma Pigmentosum patients may have a defect in any one of seven genes that normally provide the cell with information on how to make a protein that is important in repairing ultraviolet induced DNA damage. Although there is no current cure for Xeroderma Pigmentosum there are a few therapies referred to when there is talk about finding a cure for XP. Gene therapy is one of the proposed therapies.
Gene therapy is the proposed process of changing the cellís content of DNA so that the cell can make the missing protein, resulting in normal DNA repair and normal sun sensitivity. Gene therapy may be attempted soon with XP patients in France. In this method, either an extra, normal copy of the defective normal gene is introduced into the cell so that there is an artificial normal gene in addition to the two abnormal genes the patient is born with; or else the abnormal genes are modified inside the cell so that they become normal genes. In either case, this means that the cell can now make the missing protein. Although there is hope for the use of this therapy, there are a few potential problems. First, it is very difficult to put genes into enough cells in a live person to make a difference in the personís health. Also, even if the gene is introduced into the cell, it is possible that the cell may have difficulty using the gene to make the missing protein. Furthermore, the cell may lose the normal gene over time, in which case the therapy may need to be repeated periodically. To expand, although it may be possible to treat skin surface cells that produce most skin cancers, it may take longer to invent effective therapy for deeper skin cells that produce melanomas; and treating brain cells to prevent neurological problems may be much more difficult still. Another possible problem with the therapy is that if successful, will cause the body to make a protein that the body previously lacked, which could result in allergic reactions and if sever enough, it could be necessary to take toxic and dangerous immuno suppressive drugs to inhibit the allergic reaction.
Although this genetic defect is very rare, it is important to be knowledgeable and aware of this mutation. Xeroderma Pigmentosum, however mild or severe the case, causes the afflicted to live a way of life fairly different from that of the norm. I researched this topic because I had heard bits and pieces of this genetic defect; yet, was interested in finding out the cause and cures for this specific case. This is a serious condition and is just one of the numerous genetic mutations that alter the lives of others all over the world.