Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population

• Published in: Biomédica
• Main Authors: Orlando Ricaurte, Karina Neita, Danyela Valero, Jenny Ortega-Rojas, Carlos E. Arboleda-Bustos, Camilo Zubieta, José Penagos, Gonzalo Arboleda
• Format: Article in Journal/Newspaper
• Language: English; Spanish
• Published: Instituto Nacional de Salud 2018
• Subjects: sistema nervioso central; glioma; ADN de neoplasias; Colombia; Medicine; R; Arctic medicine. Tropical medicine; RC955-962; Arctic
• Online Access: https://doi.org/10.7705/biomedica.v38i0.3708; https://doaj.org/article/0007757794d842b49ab9c6b84ae9e4cf

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.