Молекулярная и генетическая медицина

Gene Mutation in Tuberous Sclerosis Complex (TSC) and Reversal Treatment of the Mal-formation in Collagens Synthesis: Treatment of Angiofibromas via LLysine Therapy

Abstract

Samira A Barghouthi and Abdalla MWalwil

Angiofibromas are malformation of skin caused by genetic disorders and gene mutation. The purpose of this case study is to find a natural and cost effective solution to overcome the formation and proliferation of angiofibroma structures. At the present time there no simple treatment is available for angiofaibromas and the only available techniques involve the use of carbon dioxide and laser. Besides being costly these techniques need repetitive treatments over a long time and no guarantee of permanent removal of these angiofaibromas. They seem to reform in the same location and in some cases may extend to the surrounding area. The manifestation of these, in the facial area, is in addition to the disfiguring of the face cause health problems as a result of bleeding and possible infection. These angiofaibromas with sizes ranging from granules on the micrometer size to larger ones with diameters on the millimeter scale. They are being reddish to brown, depending on the amount of blood vessels and vacuolated blood. Why are angiofibromas developed around the onset of puberty and accompanying hormonal change? What are the physiological changes that occur at this age? Are they associated with skin and protein synthesis and are conducive to the development of angiofibromas?

Because of the fact that these are considered to be genetics the only treatments proposed and performed by medical-doctors only symptomatic treatments. In this paper we propose a treatment of the actual protein synthesis and an enhancement of the production of the proper collagen protein to sharply minimize the formation or may be in some cases totally eradicating the angiofaibromas or in the worst scenario just decrease of blood vacuoles supplement and hence shrinking the fibromas. Results presented here are based on case studies and are very encouraging to perform clinical testing on a larger scale, i.e., a larger group of patients younger than 20 years of age. The limitation of such study is defined under testing patients who do not have any angiofibromas but who are likely to develop angiofibromas. We did not have this kind of sample in the group, which would strengthen the results by providing a baseline on the effectiveness of L-Lysin in inhibiting the initial development of the facial fibromas. In future study this could be compensated for by conducting some tissue culture and monitoring the effect of various amino acids on normal cells vis-à-vis mutated cell lines. This type of research is very crucial for both researchers and consumers as it emphasizes the concept of simplicity in prevention and treatment. Angiofibromas are also caused as side effects of some seizure medications such as phenytoin and the results are devastating for the patients. We hope that maybe some will benefit from this research by following healthy diets with regard to the inclusion of essential amino acids in a healthy diet especially that of L-Lysine.