Neurofibromatosis Its Genetic Implications
The National Institute of Health defines Neurofibromatoses as group genetic disorders that affects the development and growth of neural cell tissues. These disorders cause tumor growth in nerve tissues, skin changes, and in some cases bone deformities. Of the eight possible subtypes of Neurofibromatosis (NF) at least 85% are represented by NF Type 1, also known as von Recklinghausen or classic peripheral neurofibromatosis. It has a prevalence of about 1:4000 live births. An additional ten percent have NF Type 2, also known as acoustic or central neurofibromatosis and occurs in about 1:50,000 live births (Baskin 1). This paper will deal only with the more prevalent NF Type 1 and focus on the symptoms of the disease and biochemical aspects of the NF1 and the ethical implication of inherited genetic disorders. NF1 is an autosomal dominant inherited disease characterized by multiple cafe-au-lait spots, numerous fibromas, and Lisch nodules. Most manifestations appear during childhood and early adult life. Clinical criteria for diagnosing the disease must include two or more of the following symptoms: (1) six or more cafe-au-lait spots larger that 5 mm in pre-pubescent individuals and greater than 15 mm is post-pubescent individu
In the case of neurofibromatosis, the outcome of a genetic test can not predict the severity of the disease. In some cases the condition may be mild, or in others very severe and a genetic test can not determine how the disease will manifest itself over the course of a person's lifetime. The important thing that must be done is to find a treatment for the symptoms of the disease and possibly a cure with gene therapy. But until that time, an effort must be made to curve the serious effects of Neurofibromatosis. als, (2) two or more neurofibromas of any type or one plexiform neurofibroma, (3) axillary or inguinal freckling, (4) sphenoid bone dysplasia, (5) optic glioma, (6) Lisch nodules, and (7) a family history of NF1. Other manifestations include learning disabilities, epilepsy, mental retardation, scoliosis, gastrointestinal neurofibromas, pheochromacytomas, and renal artery stenosis (Goldman 2074). Devore, David. Genetic Screening and Ethics an Overview. http://www.accessexcellence.org/AE/AEPC/WWC/1992/gen_screen1.html. Neurofibromatosis Type I is an autosomal dominant disorder without predilection for sex, race, or color. It shows with complete penetrance with highly variable expression. The gene is located on chromosome 17q and the gene encompasses around 350 kilobases (Goldman 2074). The gene codes for the protein neurofibromine which resembles certain proteins that inactivate oncogenes (Hulsebos 620); thus lacking neurofibromine can lead to an increased disposition to cancer. Robbins. Basic Pathology 6th Edition. W.B. Sanders Co.:Philidelphia 1997. 134. Goldman, et al. Cecil Textbook of Medicine edition 21. 2074. W.B. Saunders Co.: Philidelphia. 2000.
Some common words found in the essay are:
RAS GTP, NF Type, Neurofibromatosis Type, Institute Health, Ethics Overview, NF1 GRD, Textbook Medicine, Virtual Hospital, nf1 gene, Research Institute, Institutes Health, lisch nodules, nf type, autosomal dominant, goldman 2074, genetic screening, cafe-au-lait spots, genetic disorders, gtpase activating protein, severe manifestation, kilobase deletion, severe manifestation disease, nf type 1,
Approximate Word count = 1338
Approximate Pages = 5 (250 words per page double spaced)
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