Von Recklinghausen 's Disease : An Autosomal Dominant Disorder

992 Words Nov 7th, 2015 4 Pages
Von Recklinghausen’s Disease Von Recklinghausen’s disease is a disorder that genetic disorder that is commonly passed on through many generations. Another name for this disorder is neurofibromatosis type one (NF1) (Reynolds, Browning, Nawroz, & Campbell, 2003). NF1 is estimated to affect approximately one in every 3,000 people (Reynolds, Browning, Nawroz, & Campbell, 2003). Since the mid 1900s, medical researchers, genetic scientists, and neuroscientists have been working to learn as much as possible about this disease.
Etiology
The etiology of NF1 has been thoroughly investigated and there is substantial knowledge on the topic. Neurofibromatosis type one is an autosomal dominant disorder (Rasmussen & Friedman, 2000). In looking at the genes of those diagnosed with NF1, it was found that people with this disorder have a mutation on a section of chromosome 17 (Rasmussen & Friedman, 2000). Neurofibromin is the protein on this chromosome, hence the name neurofibromatosis (Rasmussen & Friedman, 2000). Approximately 50% of all cases of NF1 have been passed down by family members (Rasmussen & Friedman, 2000).
Pathophysiology
The dysfunction in chromosome 17 cause many problems primarily with the nerves. Neurofibromin is a protein that prevents excessive cell growth. Those with neurofibromatosis type one have a neurofibromin deficiency which can cause tumors to grow on the nerves (Nanette, Edwards, DeCrane, & Hingten, 2014). These tumors called neurofibromas are known…
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