Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population
Introduction: Gliomas are the most common primary tumors of the central nervous system and, according to their malignancy, they are graded from I to IV. Recent studies have found that there is an association between gliomas and mutations in exon 4 of genes that codify for isocitrate dehydrogenases 1...
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| Format: | Article |
| Language: | English |
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Instituto Nacional de Salud
2018-05-01
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| Series: | Biomédica: revista del Instituto Nacional de Salud |
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| Online Access: | https://www.revistabiomedica.org/index.php/biomedica/article/view/3708 |
| _version_ | 1818500046620983296 |
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| author | Orlando Ricaurte Karina Neita Danyela Valero Jenny Ortega-Rojas Carlos E. Arboleda-Bustos Camilo Zubieta José Penagos Gonzalo Arboleda |
| author_facet | Orlando Ricaurte Karina Neita Danyela Valero Jenny Ortega-Rojas Carlos E. Arboleda-Bustos Camilo Zubieta José Penagos Gonzalo Arboleda |
| author_sort | Orlando Ricaurte |
| collection | DOAJ |
| description | Introduction: Gliomas are the most common primary tumors of the central nervous system and, according to their malignancy, they are graded from I to IV. Recent studies have found that there is an association between gliomas and mutations in exon 4 of genes that codify for isocitrate dehydrogenases 1 and 2 (IDH1: codon 132; IDH2: codon 172).
Objective: To establish the frequency of mutations in IDH1 and IDH2 in a sample of gliomas from Colombian population.
Materials and methods: DNA was extracted from tumor tissue. The exon 4 of IDH1 and IDH2 was amplified by PCR using specific primers and subsequently sequenced. Mutations were determined using the 4Peaks MAFFT programs.
Results: We found mutations in the IDH1 gene in 34% of the glioma samples, with a predominance of the nonsynonymous mutation R132H. Mutations in the IDH2 gene were found in 7.5% of cases, with a predominance of the nonsynonymous R172K and R172W mutations.
Conclusions: The frequency of mutations in the IDH1 and IDH2 genes in the sample was similar to that reported in other studies. The analysis of these mutations may be important to establish prognostic factors and for the development of future therapeutic targets in gliomas. |
| first_indexed | 2024-12-10T20:37:44Z |
| format | Article |
| id | doaj.art-0007757794d842b49ab9c6b84ae9e4cf |
| institution | Directory Open Access Journal |
| issn | 0120-4157 0120-4157 |
| language | English |
| last_indexed | 2024-12-10T20:37:44Z |
| publishDate | 2018-05-01 |
| publisher | Instituto Nacional de Salud |
| record_format | Article |
| series | Biomédica: revista del Instituto Nacional de Salud |
| spelling | doaj.art-0007757794d842b49ab9c6b84ae9e4cf2022-12-22T01:34:29ZengInstituto Nacional de SaludBiomédica: revista del Instituto Nacional de Salud0120-41570120-41572018-05-01380869210.7705/biomedica.v38i0.37082096Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian populationOrlando Ricaurte0Karina Neita1Danyela Valero2Jenny Ortega-Rojas3Carlos E. Arboleda-Bustos4Camilo Zubieta5José Penagos6Gonzalo Arboleda7Grupo de Patología Molecular, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., ColombiaGrupo de Neurociencias y Muerte Celular, Instituto de Genética, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., ColombiaGrupo de Neurociencias y Muerte Celular, Instituto de Genética, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., ColombiaGrupo de Neurociencias y Muerte Celular, Instituto de Genética, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., ColombiaGrupo de Neurociencias y Muerte Celular, Instituto de Genética, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., ColombiaGrupo de Neurocirugía, Instituto Nacional de Cancerología, Bogotá, D.C., ColombiaGrupo de Neurocirugía, Instituto Nacional de Cancerología, Bogotá, D.C., ColombiaGrupo de Patología Molecular, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., Colombia Grupo de Neurociencias y Muerte Celular, Instituto de Genética, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., ColombiaIntroduction: Gliomas are the most common primary tumors of the central nervous system and, according to their malignancy, they are graded from I to IV. Recent studies have found that there is an association between gliomas and mutations in exon 4 of genes that codify for isocitrate dehydrogenases 1 and 2 (IDH1: codon 132; IDH2: codon 172). Objective: To establish the frequency of mutations in IDH1 and IDH2 in a sample of gliomas from Colombian population. Materials and methods: DNA was extracted from tumor tissue. The exon 4 of IDH1 and IDH2 was amplified by PCR using specific primers and subsequently sequenced. Mutations were determined using the 4Peaks MAFFT programs. Results: We found mutations in the IDH1 gene in 34% of the glioma samples, with a predominance of the nonsynonymous mutation R132H. Mutations in the IDH2 gene were found in 7.5% of cases, with a predominance of the nonsynonymous R172K and R172W mutations. Conclusions: The frequency of mutations in the IDH1 and IDH2 genes in the sample was similar to that reported in other studies. The analysis of these mutations may be important to establish prognostic factors and for the development of future therapeutic targets in gliomas.https://www.revistabiomedica.org/index.php/biomedica/article/view/3708sistema nervioso centralgliomaADN de neoplasiasColombia |
| spellingShingle | Orlando Ricaurte Karina Neita Danyela Valero Jenny Ortega-Rojas Carlos E. Arboleda-Bustos Camilo Zubieta José Penagos Gonzalo Arboleda Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population Biomédica: revista del Instituto Nacional de Salud sistema nervioso central glioma ADN de neoplasias Colombia |
| title | Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population |
| title_full | Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population |
| title_fullStr | Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population |
| title_full_unstemmed | Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population |
| title_short | Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population |
| title_sort | study of mutations in idh1 and idh2 genes in a sample of gliomas from colombian population |
| topic | sistema nervioso central glioma ADN de neoplasias Colombia |
| url | https://www.revistabiomedica.org/index.php/biomedica/article/view/3708 |
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