Study of LncRNA RMRP expression profile and RMRP gene promoter region mutations in breast cancer patients

Gene expression ‎regulators and mutations are a kind of biomarker and new ‎therapeutic target for human diseases like cancer. LncRNAs are involved in Several regulatory processes. RNA components of ‎mitochondrial RNA processing ‎endoribonuclease is a lncRNA that its ‎regulatory position has been identified ‎in some cancers. Regarding the importance of the RMRP gene, we are investigating changes in the expression of this gene that are caused by promoter region mutations in breast cancer patients. In this study, LncRNA RMRP gene expression was evaluated on 25 tumor samples and 25 control samples by semi-quantitative RT PCR technique, and confirmed by Real time PCR technique for a number of samples. Also, to detect the mutation in the promoter region of the LncRNA RMRP gene, DNA extraction and sequencing were performed. The expression of the RMRP gene in tumor samples showed a significant increase relative to control samples. Expression of RMRP gene was shown a significant decrease in positive HER2 samples compared to negative HER2 specimens and a significant increase in positive metastatic tumor samples compared to negative metastatic samples . Also, sequencing of the promoter region revealed differences in the region's sequence in tumor and normal samples.Based on sequencing results, there was no mutation in the RMRP promoter sequence of the tumor . The RMRP gene can be suggested as a tumor and metastatic marker for the detection of breast cancer. But more clinical and molecular research is still needed to prove it more accurately.