Investigation of MACC1-AS1 gene mutations in colorectal cancer: Kolorektal kanserde MACC1-AS1 gen mutasyonlarının araştırılması

Jamal Sadiq Taib Taib; Mehri İğci; Ersin Borazan; Emine Bayraktar; Ahmet Balık; Ecir Ali Çakmak; Ahmet Arslan

doi:10.5455/GMJ-30-154367

Authors

Jamal Sadiq Taib Taib Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
Mehri İğci Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
Ersin Borazan Department of General Surgery, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
Emine Bayraktar Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
Ahmet Balık Department of General Surgery, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
Ecir Ali Çakmak Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
Ahmet Arslan Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey

DOI:

https://doi.org/10.5455/GMJ-30-154367

Keywords:

Colorectal cancer, DNA sequence analysis, MACC1-AS1, mutation screening

Abstract

Colorectal cancer is the frequent cause of mortality in Western world. Metastasis associated with colon cancer 1 (MACC1) gene acts as a key regulator of HGF/Met pathway and is expressed highly in colorectal cancer. MACC1 serves as a prognostic indicator for invasion and metastasis of several cancers. Potential links between MACC1 AS1 RNA locus that located in the intron 6 of MACC1 gene and high expression of MACC1 are unknown. Herein, the secondary structure of MACC-AS1 noncoding RNA and the complementarities between MACC1 mRNA and MACC1-AS1 were analyzed by RNAFold and IntaRNA programs. Since MACC1-AS1 has a proper secondary structure to hybridize with MACC1 mRNA, a potential role of MACC1-AS1 in regulation of MACC1 expression could be thought. The study included 104 controls and 96 patients. Genomic DNA was isolated from blood samples and analyzed by PCR-SSCP and sequence analysis. Three fragments and six genotypes (1, 2, 3, 1&2, 1&3, 2&3) were observed in the exon 1 of MACC1-AS1. A and GT (rs200028381) insertions in genotype 1, G>A substitution and A insertion in genotype 2 were detected. However, no association was observed between these SNPs and colorectal cancer (P>0.05). This is the first investigation on MACC1-AS1 gene mutation in colorectal cancer using molecular techniques. Novel SNPs in exon 1 were identified. In order to understand the association between colorectal tumors and MACC1-AS1 RNA expression clearly; further analysis, like Western blotting and immunohistochemistry of MACC1 and RNA analysis for MACC1-AS1, are needed.

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