Neurofibromatosis - 946 Words

Neurofibromatosis My disorder research paper is about neurofibromatosis, which is a genetically-inherited disorder in which the nerve tissue grows tumors that may cause serious damage by compressing nerves and other tissues. The disorder affects all neural cells such as the Schwann cells and melanocytes. The melanocytes function abnormally in this disease, resulting to disordered skin pigmentation. The tumors would be able to cause bumps under the skin, colored spots, skeletal problems, and other neurological problems. Neurofibromatosis is also an autosomal dominant disorder, which means that only one copy of the affected gene is needed for the disorder to develop. In this case if there were only one parent who has neurofibromatosis,†¦show more content†¦In the case of NF-2, however, final results are similar among family members; a strong genotype-phenotype correlation is believed to exist. Both NF 1 and NF 2 can also appear to be spontaneous de novo mutations, with no fami ly history. These cases account for about one half of neurofibromatosis cases. Neurofibromatosis-1 is found in approximately 1 in 2,500-3,000 live births (carrier incidence 0.0004, gene frequency 0.0002) and is more common than NF-2. There are no cures or treatments for this disorder; but the only therapy for patients with neurofibromatosis is a program of treatment by a team of specialists to manage symptoms or complications. Surgery may be needed when the tumors compress organs or other structures. Less than 10% of people with neurofibromatosis develop cancerous growths. Although there is no cure for NF, the Neurofibromatosis Association is optimistic there will be an effective treatment within the next five to ten years. For families with NF, genetic screening and counseling is available. The history of the disease was first described in 1882 by the German pathologist, Friedrich Daniel von Recklinghausen. Recklinghausen was successful in generating some of the most descriptive m edical observations of his time, making him the first person toShow MoreRelatedNeurofibromatosis Essay804 Words   |  4 PagesNeurofibromatosis Neurofibromatosis is a disorder affecting the chromosomes of the human body. It is a hereditary disorder affecting the nervous system. The term neurofibromatosis actually refers to two different genetic diseases. The most common type is NF 1, and the less common type is NF 2. Both disorders are transmitted in an autosomal dominant fashion. An autosomal dominant disease is a disorder caused by the presence of a single autosomal dominant gene; an abnormal factor locatedRead MoreA Brief Look at Neurofibromatosis534 Words   |  2 Pagesgenes are called alleles, having 2 alleles for each gene. When we use alleles when we consider genetic diseases’ allele is dominant or recessive. Neurofibromatosis is a genetic disorders of the nervous system, it can be passed by a parent or it can happen because of a mutation (change) in your genes. This diseases has three cases, neurofibromatosis type 1 (NF1) and type 2 (NF2) and rarely schwannomatosis. NF is considered an autosomal dominant disease, which means that people with this conditionRead MoreHistory Of Neurofibromatosis Type 1 ( Nf1 )776 Words   |  4 PagesNeurofibromatosis type 1 (NF1) is the most prevalent inherited disease that predisposes cells to be tumorigenic. Disruption of the NF1 gene abolishes the encoded protein neurofibromin that normally converts active Ras-GTP to inactive Ras-GDP, leading to hyperactive Ras signaling and tumorigenesis. To date the NF1 pathogenesis still remains unclear and no effective drugs have been developed for routine clinical treatment. Human induced pluripotent stem (iPS) cells derived from NF1 patients harboringRead MoreVon Recklinghausen s Disease : An Autosomal Dominant Disorder992 Words   |  4 Pagesdisorder 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 isRead MoreEssay On Astrocytic Hamartomas930 Words   |  4 Pagesgenes6. The lesions can appear in a variety of organs including the brain, eyes, heart, kidneys, lungs, or skin6. Differentiating diseases based on retinal astrocytic hamartomas alone is difficult due to their similar appearance to lesions in neurofibromatosis type 1, or the retinoblastomas6. The lesions can vary in size and appearance throughout the body, and despite the lesions being benign; patients will often require treatment in a multitude of areas due to the accompanying symptoms or secondaryRead MoreA Newly Recognized Condition1266 Words   |  6 PagesResolved Sudden Hearing Loss. The Annals of Otology, Rhinology Laryngology 112.5 (2003): 395-7. ProQuest. Web. 10 Oct. 2014. Neurology and Neurosurgery. Johns Hopkins Comprehensive Neurofibromatosis (NF) Center, n.d. Web. 7 Oct. 2014. http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/neurofibromatosis/schwannomatosis/. Schwannomatosis: A Newly Recognized Tumor-Predisposing Condition. Neurosciences Update 2nd ser. 8 (2011): 1-2. Mayo Clinic. Web. 10 Oct. 2014. http://www.mayoclinicRead MoreEssay On Whole Genome Sequencing1226 Words   |  5 Pagesdisorders and the severity of the neurological disorders they were associated with. Software such as UCSC, predict protein and SIFT were used to predict protein structure and function for the proposed mutated DNA sequences. Neurofibromatosis Introduction Neurofibromatosis 1 (NF1) is an autosomal dominant disease that is extremely complex but involves the growth of tumors along the central nervous system (Jett and Friedman, 2010). NF1 encodes a tumor suppressor called neurofibromin which is non-functionalRead MoreAutism Spectrum Disorder728 Words   |  3 Pagesor cytomegalovirus) in the manifestation of autism. (Libbey 2005; Autism Society) Identifying the genetic roots of autism has also been difficult. Certain genetic syndromes have high rates of autism (fragile X, 22q13 deletion syndrome, Downs, neurofibromatosis, Angelman, Prader Willi). Nevertheless, not all individuals with these gene mutations are autistic. Copy-number variations can lead to autism. (Sebat 2007) It has also been speculated that the lack of topoisomerase inhibitors can lead to ASDRead MoreBrain Disorders Affecting Children812 Words   |  4 Pagesare mostly unknown, another challenge is how to mechanistically link these new genetic findings to the disease processes that ultimately lead to symptoms. The successful cases come from studies on monogenic disorders, such as Rett syndrome, neurofibromatosis (NF), tuberous sclerosis (TS) and fragile X syndrome (FXS). For many years, the prevailing view has been that NDDs cannot be cured because the affected biological processes cannot be undone. Nevertheless, studies from Rett mouse models have demonstratedRead MoreAmyotrophic Lateral Sclerosis - 11013 Words   |  5 Pagesthe probability that they could get a genetic disorder. The thing that makes us different is the genetic sequence. There are many different types of genetic disorders. A few of them are: Angleman syndrome, Hemophilia, Sickle-cell disease, Neurofibromatosis, Cri du chat, and Down syndrome. People are born with these diseases and have to face many challenges every day to live with these genetic mutations. This essay is going to specifically cover one genetic disorder called Amyotrophic lateral sclerosis