Sandbox Reserved 1710: Difference between revisions
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Currently over 1485 mutations of Neurofibromin have been identified that lead to life-threatening illnesses or conditions such as Neurofibromatosis Type I.<ref name="Lupton">PMID: 34887559 </ref> Mutations to the NF1 gene that prevent the interaction of Neurofibromin with Ras, remove this check on Ras dependent cell proliferation and uncontrolled cell growth can lead to tumors and a higher risk of cancer. [https://en.wikipedia.org/wiki/Neurofibromatosis_type_I 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 [https://en.wikipedia.org/wiki/Caf%C3%A9_au_lait_spot cafe-au-lait macules], clusters of freckles in unusual places, and problems with the bones, eyes and nervous system. | Currently over 1485 mutations of Neurofibromin have been identified that lead to life-threatening illnesses or conditions such as Neurofibromatosis Type I.<ref name="Lupton">PMID: 34887559 </ref> Mutations to the NF1 gene that prevent the interaction of Neurofibromin with Ras, remove this check on Ras dependent cell proliferation and uncontrolled cell growth can lead to tumors and a higher risk of cancer. [https://en.wikipedia.org/wiki/Neurofibromatosis_type_I 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 [https://en.wikipedia.org/wiki/Caf%C3%A9_au_lait_spot cafe-au-lait macules], clusters of freckles in unusual places, and problems with the bones, eyes and nervous system. | ||
Neurofibromin is also involved in the differentiation of [https://en.wikipedia.org/wiki/Neural_crest neural crest-derived cells], [https://en.wikipedia.org/wiki/Mesenchymal_stem_cell mesenchymal cells], [https://en.wikipedia.org/wiki/Neural_stem_cell neural cells], [https://en.wikipedia.org/wiki/Melanocyte melanocytes], and [https://en.wikipedia.org/wiki/Osteocyte 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 point mutations identified lead to a synthesis of truncated, non-functional protein | Neurofibromin is also involved in the differentiation of [https://en.wikipedia.org/wiki/Neural_crest neural crest-derived cells], [https://en.wikipedia.org/wiki/Mesenchymal_stem_cell mesenchymal cells], [https://en.wikipedia.org/wiki/Neural_stem_cell neural cells], [https://en.wikipedia.org/wiki/Melanocyte melanocytes], and [https://en.wikipedia.org/wiki/Osteocyte 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 point mutations identified lead to a synthesis of truncated, non-functional protein. Type I Neurofibromatosis is inherited in an autosomal dominant manner but about 50% of cases result from de novo mutations. <ref name="Abramowicz">PMID:25182393</ref> | ||
Mutations in the NF1 gene have been found in sporadic cancers such as [https://en.wikipedia.org/wiki/Glioblastoma glioblastoma], [https://en.wikipedia.org/wiki/Neuroblastoma neuroblastoma], [https://en.wikipedia.org/wiki/Lung_cancer lung cancer], [https://en.wikipedia.org/wiki/Ovarian_cancer ovarian cancer], and [https://en.wikipedia.org/wiki/Breast_cancer breast cancer]. 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.<ref name="Ratner">PMID:25877329</ref> | Mutations in the NF1 gene have been found in sporadic cancers such as [https://en.wikipedia.org/wiki/Glioblastoma glioblastoma], [https://en.wikipedia.org/wiki/Neuroblastoma neuroblastoma], [https://en.wikipedia.org/wiki/Lung_cancer lung cancer], [https://en.wikipedia.org/wiki/Ovarian_cancer ovarian cancer], and [https://en.wikipedia.org/wiki/Breast_cancer breast cancer]. 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.<ref name="Ratner">PMID:25877329</ref> | ||
