MicroRNA-124 Overexpression in Associated with Lymph Node Metastasis in Breast Cancer

Breast cancer as a heterogeneous sophisticated disease includes several group with discrete clinical consequences. The disease is the most prevalent malignancy after non-melanoma skin cancers and it is also considered as the second leading cause of death after lung cancer. In fact, breast cancer is account for 23% of all cancer cases and 14% of deaths from cancer. The major cause of breast cancer deaths is actually metastasis of the tumor. As a result, it is prominent to identify the disease mechanism and diagnose molecular tools in order to predict metastasis. The specimens were collected from 30 metastatic and 30 primary tumor tissues of breast cancer patients. After that, RNA extraction was accomplished by means of GeneAll kit and then was stored in -80 degrees. Then, cDNA synthesis was carried out by miscript II RT kit from Qiagenecompany. Finally, sybergreen Real Time PCR of all samples was done for miRNA124, miRNA130a and miRNA 16 as a reference by means of Pre-designed primers of Qiagene Company. The results of molecular expression study showed that the amount of miRNA 124 in metastatic tissues has approximately increased double of primary tumor tissues. It is also revealed that the amount of miRNA has similarly increased by about 1.7 times. According to recent results, it can be possible to regard molecule as a major cause of metastasis process in breast cancer.

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

Background: Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosomal recessive hearing loss (DFNB68) in two Pakistani families. We describe a segregating novel homozygous c.323G>A, p.Arg108Gln pathogenic variant in S1PR2 that was identified in four affected individuals from a consanguineous five generation Iranian family. Methods: Whole exome sequencing and bioinformatics analysis of 116 hearing loss-associated genes was performed in an affected individual from a five generation Iranian family. Segregation analysis and 3D protein modeling of the p.Arg108 exchange was performed. Results: The two Pakistani families previously identified with S1PR2 pathogenic variants presented profound hearing loss that is also observed in the affected Iranian individuals described in the current study. Interestingly, we confirmed mixed hearing loss in one affected individual. 3D protein modeling suggests that the p.Arg108 position plays a key role in ligand receptor interaction, which is disturbed by the p.Arg108Gln change. Conclusion: In summary, we report the third overall mutation in S1PR2 and the first report outside the Pakistani population. Furthermore, we describe a novel variant that causes an amino acid exchange (p.Arg108Gln) in the same amino acid residue as one of the previously reported Pakistani families (p.Arg108Pro). This finding emphasizes the importance of the p.Arg108 amino acid in normal hearing and confirms and consolidates the role of S1PR2 in autosomal recessive hearing loss

Additional file 1: of The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

List of exome panel evaluated genes with OMIM number. (DOCX 21 kb