The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1
The article describes the role of epigenetic processes in the tumorigenesis of neurofibromatosis type 1. The clinical manifestations of neurofibromatosis type 1 is characterized by a pronounced polymorphism erased from with single neurofibromas to severe forms with thousands of tumors and complicat...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2017-10-01
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| Series: | Успехи молекулярной онкологии |
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| Online Access: | https://umo.abvpress.ru/jour/article/view/100 |
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| author | R. N. Mustafin E. K. Khusnutdinova |
| author_facet | R. N. Mustafin E. K. Khusnutdinova |
| author_sort | R. N. Mustafin |
| collection | DOAJ |
| description | The article describes the role of epigenetic processes in the tumorigenesis of neurofibromatosis type 1. The clinical manifestations of neurofibromatosis type 1 is characterized by a pronounced polymorphism erased from with single neurofibromas to severe forms with thousands of tumors and complications even in patients with the same mutations. More than 1400 mutations in the NF1 gene have been reported, but have not yet identified genotype-phenotype correlations. Detected in the majority of neurofibromas mutation of the second allele of the gene NF1 and loss of heterozygosity may result from common disorders of genome stability and cell cycle regulation. Chance of tissue-specific inactivation of the second allele is extremely low and can not prove the detection of neurofibromas in most patients with neurofibromatosis type 1. At the same time, the role of epigenetic factors for blocking of oncosupressors has been proven and can be applied to the development of malignant tumors and neurofibromas. This assumption is proved by the fact that the majority of neurofibromas are formed in puberty, while inheriting the disease from mother to clinical manifestations more severe. This review presents the research on the role of miRNAs and specific methylation in the promoter region of NF1 tumorogenesis in neurofibromatosis type 1. Mutations in the NF1 gene are of great importance in the development of many malignancies. Due to the possibility of pharmacological correction of activity of microRNAs using antisense sequences, the study of epigenetic processes in neurofibromatosis type 1 promising to diagnose and treat not only the disease but also sporadic malignancies. |
| format | Article |
| id | doaj-art-94dd1440a3b34de7b681e868c74fc8d2 |
| institution | Matheson Library |
| issn | 2313-805X 2413-3787 |
| language | Russian |
| publishDate | 2017-10-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Успехи молекулярной онкологии |
| spelling | doaj-art-94dd1440a3b34de7b681e868c74fc8d22025-08-04T14:04:35ZrusABV-pressУспехи молекулярной онкологии2313-805X2413-37872017-10-0143374910.17650/2313-805X-2017-4-3-35-4995The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1R. N. Mustafin0E. K. Khusnutdinova1Bashkir State University.Bashkir State University; Institute of Biochemistry and Genetics, Ufa Science Center, Russian Academy of Sciences.The article describes the role of epigenetic processes in the tumorigenesis of neurofibromatosis type 1. The clinical manifestations of neurofibromatosis type 1 is characterized by a pronounced polymorphism erased from with single neurofibromas to severe forms with thousands of tumors and complications even in patients with the same mutations. More than 1400 mutations in the NF1 gene have been reported, but have not yet identified genotype-phenotype correlations. Detected in the majority of neurofibromas mutation of the second allele of the gene NF1 and loss of heterozygosity may result from common disorders of genome stability and cell cycle regulation. Chance of tissue-specific inactivation of the second allele is extremely low and can not prove the detection of neurofibromas in most patients with neurofibromatosis type 1. At the same time, the role of epigenetic factors for blocking of oncosupressors has been proven and can be applied to the development of malignant tumors and neurofibromas. This assumption is proved by the fact that the majority of neurofibromas are formed in puberty, while inheriting the disease from mother to clinical manifestations more severe. This review presents the research on the role of miRNAs and specific methylation in the promoter region of NF1 tumorogenesis in neurofibromatosis type 1. Mutations in the NF1 gene are of great importance in the development of many malignancies. Due to the possibility of pharmacological correction of activity of microRNAs using antisense sequences, the study of epigenetic processes in neurofibromatosis type 1 promising to diagnose and treat not only the disease but also sporadic malignancies.https://umo.abvpress.ru/jour/article/view/100neurofibromatosis type 1neurofibromintumorogenesisimprintingmicrornamethylationcpg-islands |
| spellingShingle | R. N. Mustafin E. K. Khusnutdinova The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1 Успехи молекулярной онкологии neurofibromatosis type 1 neurofibromin tumorogenesis imprinting microrna methylation cpg-islands |
| title | The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1 |
| title_full | The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1 |
| title_fullStr | The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1 |
| title_full_unstemmed | The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1 |
| title_short | The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1 |
| title_sort | role of epigenetic factors in the pathogenesis of neurofibromatosis type 1 |
| topic | neurofibromatosis type 1 neurofibromin tumorogenesis imprinting microrna methylation cpg-islands |
| url | https://umo.abvpress.ru/jour/article/view/100 |
| work_keys_str_mv | AT rnmustafin theroleofepigeneticfactorsinthepathogenesisofneurofibromatosistype1 AT ekkhusnutdinova theroleofepigeneticfactorsinthepathogenesisofneurofibromatosistype1 AT rnmustafin roleofepigeneticfactorsinthepathogenesisofneurofibromatosistype1 AT ekkhusnutdinova roleofepigeneticfactorsinthepathogenesisofneurofibromatosistype1 |