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>

Mutations of the gene NF1 can lead to major structural and functional changes that are dangerous for the patient. Here is the process of how a mutation could lead to life-threatening illnesses or conditions: If there is a mutation in the NF1 gene, this results in a loss of function of the Neurofibromin completely and/or the inability to interact with the Ras protein. If it cannot interact with Ras, there is no GTP to GDP, inactivating the Ras, meaning there is nothing that is limiting the Ras from promoting cell growth. Uncontrolled cell growth leads to tumors and patients are at a much higher risk for cancer. Mutations in NF1 have been found in sporadic cancers that are not even NF1 associated, which includes glioblastoma, neuroblastoma, lung cancer, ovarian cancer, and breast cancer. Additionally, NF1 is in 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.

Mutations of the gene NF1 can lead to major structural and functional changes that are dangerous for the patient. Here is the process of how a mutation could lead to life-threatening illnesses or conditions: If there is a mutation in the NF1 gene, this results in a loss of function of the Neurofibromin completely and/or the inability to interact with the Ras protein. If it cannot interact with Ras, there is no GTP to GDP, inactivating the Ras, meaning there is nothing that is limiting the Ras from promoting cell growth. Uncontrolled cell growth leads to tumors and patients are at a much higher risk for cancer. Mutations in NF1 have been found in sporadic cancers that are not even NF1 associated, which includes glioblastoma, neuroblastoma, lung cancer, ovarian cancer, and breast cancer. Additionally, NF1 is in 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>

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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>
-Mutations of the gene NF1 can lead to major structural and functional changes that are dangerous for the patient. Here is the process of how a mutation could lead to life-threatening illnesses or conditions: If there is a mutation in the NF1 gene, this results in a loss of function of the Neurofibromin completely and/or the inability to interact with the Ras protein. If it cannot interact with Ras, there is no GTP to GDP, inactivating the Ras, meaning there is nothing that is limiting the Ras from promoting cell growth. Uncontrolled cell growth leads to tumors and patients are at a much higher risk for cancer. Mutations in NF1 have been found in sporadic cancers that are not even NF1 associated, which includes glioblastoma, neuroblastoma, lung cancer, ovarian cancer, and breast cancer. Additionally, NF1 is in 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.
+Mutations of the gene NF1 can lead to major structural and functional changes that are dangerous for the patient. Here is the process of how a mutation could lead to life-threatening illnesses or conditions: If there is a mutation in the NF1 gene, this results in a loss of function of the Neurofibromin completely and/or the inability to interact with the Ras protein. If it cannot interact with Ras, there is no GTP to GDP, inactivating the Ras, meaning there is nothing that is limiting the Ras from promoting cell growth. Uncontrolled cell growth leads to tumors and patients are at a much higher risk for cancer. Mutations in NF1 have been found in sporadic cancers that are not even NF1 associated, which includes glioblastoma, neuroblastoma, lung cancer, ovarian cancer, and breast cancer. Additionally, NF1 is in 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 ==