Association of increased levels of lncRNA H 19 in PBMCs with risk of coronary artery disease

Objective: Considerable research shows that long non-coding RNAs, those longer than 200 nucleotides, are involved in several human diseases such as various cancers and cardiovascular diseases. Their significant role in regulating the function of endothelial cells, smooth muscle cells, macrophages, vascular inflammation, and metabolism indicates the possible effects of lncRNAs on the progression of atherosclerosis which is the most common underlying pathological process responsible for coronary artery disease [CAD]. The aim of present study was to assess whether the expression of the lnc RNA H19 was associated with a susceptibility to CAD by evaluating the expression level of H19 in the peripheral blood

Materials and Methods: A case-control study of 50 CAD patients and 50 age and sex-matched healthy controls was undertaken to investigate whether the H19 lncRNA expression level is associated with a CAD using Taqman Real-Time polymerase chain reaction [PCR]

Results: The subsequent result indicated that the H19 lncRNA was over-expressed in CAD patients in comparison with the controls. However, it was not statistically significant. This overexpression may be involved in coronary artery disease progression

Conclusion: We report here, the up-regulation of H19 lncRNA in the whole blood of CAD patients and suggest a possible role for H19 in the atherosclerosis process and its consideration as novel biomarker for CAD

Association of rs16917496 polymorphism at the miR-502 binding site in the SET8 3'UTR with the risk of Prostate Cancer and benign prostatic hyperplasia

Background: MicroRNAs [miRNAs] can bind to the 3'-untranslated regions [UTRs] of messenger RNAs, where they interfere with translation and thereby regulate cell differentiation, apoptosis, and tumorigenesis. Genetic polymorphisms in the 3'-UTRs targeted by miRNAs alter the strength of miRNA binding in a manner that affects the behavior of individual miRNAs. The histone methyltransferase SET8 has been reported to be a regulator of Tumor Protein 53 [TP53] methylation, a tumor suppressor gene, and regulate genomic stability. Furthermore, an association between the TP53 and Prostate Cancer has been reported in several studies. The present study aimed to evaluate whether [rs16917496] polymorphism at the miR-502 binding site in the 3' untranslated region of the histone methyltransferase SET8 is associated with the expression of this gene in Benign Prostatic Hyperplasia [BPH] and prostate cancer [PCa] patients

Materials and Methods: We examined whether an rs16917496 polymorphism is associated with the risk of PCa and BPH in the Iranian population. This case-control study included 40 patients with pathologically confirmed PCa, 59 patients with BPH, and 45 controls. The rs16917496 polymorphism was determined using a restriction fragment length polymorphism [RFLP]

Results: We found significant association of rs16917496 in benign prostatic hyperplasia [BPH]. The most frequent genotype in the control, prostate cancer, and BPH groups were TT, TC, and CC, respectively

Conclusion: This study demonstrates that the heterozygote genotype of the SET8 polymorphism in the mir-502 gene could be considered a risk factor for the emergence of prostate cancer

case with late onset of ambiguous genitalia

Background: ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development

Case: in this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions. No mutations were found in these genes either

Conclusion: it seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients

Can we rely on the multiplex ligation-dependent probe amplification method [MLPA] for prenatal diagnosis?

The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification [MLPA] is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. To evaluate the sensitivity and specificity of MLPA in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods. Genomic DNA was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. Aneuploidies screening of chromosomes 13, 18, 21, X and Y were carried out using specific MLPA probe mixes [P095-A2]. For comparison purposes, samples were also tested by Quantitative Fluorescent-PCR [QF-PCR] and routine chromosomal culture method. Using this specific MLPA technique and data-analyzing software [Genemarker v1.85], one case was diagnosed with 45, X [e.g. Monosomy X or Turner's Syndrome], and the remaining 54 cases revealed normal karyotypes. These results were concordant with routine chromosomal culture and QF-PCR findings. The experiment demonstrates that MLPA can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity

de novo reciprocal x; 9 translocation in a patient with premature ovarian failure

Premature ovarian failure [POF] causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl with a history of irregular menstruation and high level of follicle-stimulating hormone [FSH] [151 mlU/mL] and luteinizing hormone [LH] [56 mlU/mL]. In ultrasound examination, left ovarian gonad was atrophic without any follicles. Right ovarian gonad was not seen. Cytogenetical analysis was performed on the patient and her parents. Her karyotype results was 46, X, rcp [X; 9] [q24; q13] dn. Her parents had normal karyotype. This reciprocal translocation between chromosome X and 9 and observed POF in the patient suggest either the disruption of a critical gene expression due to 'position effect' or deletion of one or more POF-related genes in the disrupted long arm of the affected X chromosome