بررسی تغييرات نوکلئوتيدي ژن 1LMO به عنوان یک تنظيمکننده مثبت نسخهبرداري در بيماران مبتال به تومورهاي مغزي از نوع گليوبالستوما.

Background: Glioblastoma is one of the most malignant brain tumors, which is also known as primary neuroepithelial tumors. Glioblastoma malignant tumors include 20-40% of brain tumors. The LMO1 gene is located at position 11P15.4 and is introduced as an oncogene in some cancers. This study was conducted for the first time in Iran to identify and investigate the relationship between LMO1 gene mutations and glioblastoma. Materials and Methods: In this research, the Touchdown PCR technique and DNA sequencing method were used in 35 blood samples of people with glioblastoma multiforme and 40 control samples. Bioinformatics analyses were also performed to investigate the pathogenic effect of nucleotide changes in this gene. Results: In this study, four point mutations were identified, of which two of the new mutations were misense and led to amino acid changes in one of the important domains of the protein (p.M135K and p.N148H), which indicates their potential pathogenicity. Our results of bioinformatics databases predicted that both of these mutations affect protein function, such that they can disrupt this domain and impair its function. Also, a nucleotide change was observed in the 3'UTR region of this gene (c.*74A>G), which is located at the binding site of two regulatory miRNAs and is expected to disrupt the binding of these miRNAs to the target sequence. Conclusion: These findings predict that any mutations in the LIM-sensitive domains in the LMO1 gene are significantly related to the pathogenesis of glioblastoma and most likely have a significant impact on the function of this transcriptional cofactor. [ABSTRACT FROM AUTHOR]