Sandbox Reserved 1710: Difference between revisions
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== Disease and Medical Relevance == | == Disease and Medical Relevance == | ||
Currently, there are over 1485 mutations of Neurofibromin that have been identified. Mutations in Neurofibromin can lead to life-threatening illnesses or conditions such as Neurofibromatosis Type I due to the inability of Neurofibromin to interact with Ras.<ref name="Lupton">PMID: 34887559 </ref> The role of Neurofibromin is to inhibit cellular proliferation via its Guanine triphosphatase-activating protein (GAP) activity; therefore, when there are mutations to the NF1 gene that prevent the interaction of Neufibromin with Ras, there is nothing stopping Ras from promoting cell growth. Uncontrolled cell growth can lead to tumors and a higher risk of cancer.<ref name="Ratner">PMID:25877329</ref> [https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1/ Neurofibromatosis Type 1], the most well-known disease resulting from mutations in Neurofibromin, is characterized by cognitive impairment, soft, non-cancerous tumors on or under the skin known as neurofibromas, birthmarks called cafe-au-lait macules, clusters of freckles in unusual places, and problems with the bones, eyes and nervous system. | Currently, there are over 1485 mutations of Neurofibromin that have been identified. Mutations in Neurofibromin can lead to life-threatening illnesses or conditions such as Neurofibromatosis Type I due to the inability of Neurofibromin to interact with Ras.<ref name="Lupton">PMID: 34887559 </ref> The role of Neurofibromin is to inhibit cellular proliferation via its Guanine triphosphatase-activating protein (GAP) activity; therefore, when there are mutations to the NF1 gene that prevent the interaction of Neufibromin with Ras, there is nothing stopping Ras from promoting cell growth. Uncontrolled cell growth can lead to tumors and a higher risk of cancer.<ref name="Ratner">PMID:25877329</ref> [https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1/ Neurofibromatosis Type 1], the most well-known disease resulting from mutations in Neurofibromin, is characterized by cognitive impairment, soft, non-cancerous tumors on or under the skin known as neurofibromas, birthmarks called cafe-au-lait macules <ref name="Ratner">PMID:25877329</ref>, clusters of freckles in unusual places, and problems with the bones, eyes and nervous system. | ||
Neurofibromin is an essential protein and is involved mainly in the differentiation of neural crest-derived cells, mesenchymal cells, neural cells, melanocytes, and bone cells. As Neurofibromin is essential for embryonic development, mutations to the NF1 gene can result in psychological retardation resulting from Type I neurofibromatosis. Most of the 1485 mutations identified lead to a synthesis of truncated, non-functional protein and are a result of point mutations. Type I Neurofibromatosis is inherited in an autosomal dominant manner but about 50% of cases de novo ones. <ref name="Abramowicz">PMID:25182393</ref> | Neurofibromin is an essential protein and is involved mainly in the differentiation of neural crest-derived cells, mesenchymal cells, neural cells, melanocytes, and bone cells. As Neurofibromin is essential for embryonic development, mutations to the NF1 gene can result in psychological retardation resulting from Type I neurofibromatosis. Most of the 1485 mutations identified lead to a synthesis of truncated, non-functional protein and are a result of point mutations. Type I Neurofibromatosis is inherited in an autosomal dominant manner but about 50% of cases de novo ones. <ref name="Abramowicz">PMID:25182393</ref> | ||
