ABSTRACT
Background: Hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. It comes from mutations in sarcomeric proteins. Cardiac myosin-binding protein C3 is one of the critical genes in hypertrophic cardiomyopathy [HCM] and sudden cardiac death, accounting for about 20% of HCM-causing mutations. Genetic testing is recommended in patients with HCM. The aim of the current study was to find possible disease-causing mutations in 3 exons of the gene myosin-binding protein C [MYBPC3] in patients with HCM
Methods: Fifty subjects with documented known HCM were enrolled in the study. The patients were referred to the hospitals affiliated to Tehran University of Medical Sciences between 2008 and 2011. Peripheral blood samples were collected, as well as clinical and demographic data. The nucleotide sequences of the exons number 7, 16, and 18 of MYBPC3, whose relevance to the disease was previously reported, were amplified by polymerase chain reaction. Direct DNA sequencing was applied, and the Chromas software was used to analyze the sequences to find possible disease-causing mutations
Results: The study population comprised 73% male and 27% female patients. The mean age of the patients was 33.9 +/- 20.08 years. Family history of sudden cardiac death was reported in 48.2% of the patients. About 79% of the studied subjects had a history of at least 1 other affected relative in their families. Laboratory findings did not show mutations or any nucleotide changes in the sequences of the 3 target exons in the genomic DNA of the studied patients with HCM
Conclusion: The nucleotide sequences of the exons number 7, 16, and 18 of MYBPC3 were not mutated in the 50 studied subjects with HCM
ABSTRACT
Colorectal cancer is the third most common cancer in the world. Non-coding RNA especially miRNAs have important regulatory roles in cancer. miRNAs are small non coding RNA 21-23 nucleotides long which have different levels of expression between tumors and normal tissues. This study was designed to compare expression level of miRNA-21 between Iranian population colorectal cancer tissues and normal tissue. This case-control study has performed in medical genetics department of Tehran University of Medical Sciences from January to November 2013. We used 35 samples. The samples were isolated from tumor and adjacent normal tissues of colon. Thirty-five samples were divided into different groups according to cliniopathologic features including tumor size [>4 and <4 cm], metastasis [+ and -] and stage. After small RNA extraction from tissues by small RNA purification kit the quality and quantity of extracted RNA was determined using spectrophotometry. cDNAs were synthesized and real-time polymerase chain reaction carried out. Finally expression levels were statistically analyzed by LinRegPCR and REST software. miRNA-21 expression ratio in stages I, II and III were 1/804 and 4/574, respectively, the increase from stage III was statistically significant [P= 0.037]. The expression were also studied according to different clinicopathologic status of colon cancer, tumor size [>4 and <4 cm] and metastatic [+ and -], miRNA-21 over expressed in both groups, however the increase was not statistically significant. In this study, we found miR-21 over-expression in advanced stage in tumoral tissue comparing with normal adjacent tissue. This means perhaps in the future it would be possible to use miRNA-21 as an informative prognostic biomarker to guide for better treatment strategies for colorectal cancer patients. Our findings also indicate that miRNA-21 is a promising new molecular target for designing novel therapeutic strategies to control colorectal cancer