Sandbox Reserved 1710: Difference between revisions
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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> | ||
Mutations of the gene NF1 can lead to major structural and functional changes that are dangerous for the patient. | Mutations of the gene NF1 can lead to major structural and functional changes that are dangerous for the patient. NF1 mutation(s) can result in the complete loss of function and the inability to interact with the Ras protein. If interaction with Ras cannot occur, no conversion of GTP to GDP occurs and, therefore, no inactivation of Ras. Consequently, there is nothing limiting Ras from promoting cell growth. Uncontrolled cell growth leads to tumors and puts patients at a much higher risk for cancer. Mutations in the NF1 gene have been found in sporadic cancers such as glioblastoma, neuroblastoma, lung cancer, ovarian cancer, and breast cancer. Additionally, NF1 is one of the top ten genes that are most mutated in tumors of the lung, breast, ovary, pancreas, and prostate. Researchers are still unsure as to whether biallelic loss of NF1 is common or if it is only a hemizygous loss of the gene that contributes to the growth progression of certain sporadic tumors. It is possible that the order of mutations affects the grade of a tumor (for certain types of cells) and thus explains why NF1 patients are not predisposed to certain types of sporadic tumors.<ref name="Ratner">PMID:25877329</ref> | ||
== Student Contributors == | == Student Contributors == | ||
