Altered expression of 3´paralogus HOX A-D clusters in endometriosis disease: a case-control study

Background: Endometriosis is a prevalent gynecological disease, with limited known etiology and more researches are required to identify its etiology. In this manner, there is no evidence for expression and function of 3and acute;HOX genes in 4 clusters in the limb and pelvic organs such as the uterus and its disorders [Genes in the HOXA-D clusters are subdivided into 13 paralogous groups]

Objective: This study designed to investigate the expression profile of 5 paralogous [1-5] in four clusters of HOX genes [A, B, C, and D] in ectopic and eutopic tissues of women with endometriosis compared to the normal endometrium

Materials and Methods: Samples were obtained from thirty patients [15 with and 15 without endometriosis] of reproductive age with normal menstrual cycles. The same patient provided both eutopic and ectopic tissues and control women were laparoscopically checked for the absence of endometriosis. The expression profile of these HOX genes was investigated by quantitative real-time polymerase chain reaction technique

Results: We observed significant up-regulation of some members of HOXC and D clusters [HOXD1, HOXD3, HOXC4 and HOXC5] in ectopic and eutopic tissues vs. control. Also, our data showed significant down-regulation of all of HOXA and HOXB paralogous except HOXA1 in ectopic tissues versus control

Conclusion: Our data showed specific cluster dependent modulation of the HOX genes expression in endometriosis [over-expression of some HOX genes in cluster C and D and down-regulation of HOX genes in cluster A and B] in ectopic and eutopic tissues compare to control group. Therefore, it is possible that change of expression level of these genes in endometrium plays a role in the pathogenesis of endometriosis

review on various uses of N-acetyl cysteine

N-acetyl cysteine [NAC], as a nutritional supplement, is a greatly applied antioxidant in vivo and in vitro. NAC is a precursor of L-cysteine that results in glutathione elevation biosynthesis. It acts directly as a scavenger of free radicals, especially oxygen radicals. NAC is a powerful antioxidant. It is also recommended as a potential treatment option for different disorders resulted from generation of free oxygen radicals. Additionally, it is a protected and endured mucolytic drug that mellows tenacious mucous discharges. It has been used for treatment of various diseases in a direct action or in a combination with some other medications. This paper presents a review on various applications of NAC in treatment of several diseases

Differential incorporation of beta-actin as a component of RNA polymerase II into regulatory regions of stemness/differentiation genes in retinoic acid-induced differentiated human embryonic carcinoma cells

Objective: Nuclear actin is involved in transcription regulation by recruitment of histone modifiers and chromatin remodelers to the regulatory regions of active genes. In recent years, further attention has been focused on the role of actin as a nuclear protein in transcriptional processes. In the current study, the epigenetic role of nuclear actin on transcription regulation of two stemness [OCT4 and NANOG] and two differentiation] NESTIN and PAX6] marker genes was evaluated in a human embryonal carcinoma cell line [NT2] before and after differentiation induction

Materials and Methods: In this experimental study, differentiation of embryonal cells was induced by retinoic acid [RA], and quantitative real-time polymerase chain reaction [PCR] was used to evaluate differential expression of marker genes before and 3 days after RA- induced differentiation. Chromatin immunoprecipitation [ChIP] coupled with real-time PCR was then undertaken to monitor the incorporation of beta-actin, as a functional component of RNA polymerase II, in the regulatory regions of marker genes

Results: Data showed significant change in nuclear actin incorporation into the promoter regions of NESTIN and PAX6 after RA-induction

Conclusion: We emphasize the dynamic functional role of nuclear actin in differentiation of embryonal cells and its role as a subunit of RNA polymerase II

Novel +90G>A intronic polymorphism of CYP2D6

CYP2D6, an enzyme, metabolizes a large number of commonly prescribed drugs. Variations in CYP2D6 gene encoding this enzyme have been associated with individual differences in drug metabolism rates. The purpose of our study was to identify some allelic variants of CYP2D6 gene and to detect defective CYP2D6 alleles, as part of a pharmacogenetic screening program. A prospective study was done on 120 participants referred to Royan Institute in 2013. Allele and genotype frequencies for polymorphism of CYP2D6 gene in exons 1 and 4 were determined by polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] analysis and sequencing on PCR products, respectively. We identified a novel variant of the gene encoding cytochrome P450 2D6 [CYP2D6] at position +90 of intron 4 by sequencing method. This novel polymorphism of CYP2D6 has been deposited in GeneBank under the accession number KF225465 in Jun 2013. In the current study, we identified novel polymorphism in intron 4. This single nucleotide polymorphism [SNP] is known as +90G>A in the fourth intron

No relationship between most polymorphisms of steroidogenic acute regulatory [StAR] gene with polycystic ovarian syndrome

Background: Polycystic ovary syndrome [PCOS] is one of the most common endocrine women's disorders in reproductive age. Hyperandrogenism has a critical role in the etiology of PCOS and it can cause fault in Steroidogenesis process. During steroidogenesis, steroidogenic acute regulatory protein [StAR] seems to increase the delivery of cholesterol through mitochondrial membrane. Therefore, polymorphisms of StAR might effect on this protein and play a role in the etiology of PCOS

Objective: The aim of this study was to investigate the association between StAR SNPs with PCOS. Thus, seven polymorphisms in this gene: rs104894086, rs104894089, rs104894090, rs137852689, rs10489487, rs104894085 were detected

Materials and Methods: In this case control study, 45 PCOS women, 40 male factor/unexplained infertile women, and 40 fertile women as two control groups were participated from 2008-2012. Polymorphisms were detected using restriction fragment length polymorphism [PCR-RFLP] method

Results: Heterozygote genotyping for rs 137852689 SNP [amino acid 218 C > T] was only seen in seven PCOS patients, one in normal ovulatory women, and five in male factor/unexplained infertile women [15.5%, 2.5%, 12.5%, respectively] [p= 0.12]. While, it has shown no association between other SNPS with PCOs

Conclusion: The RFLP results for seven chosen SNPs, which located in exon 5 and 7 showed normal status in three groups, it means no heterozygous or homozygous forms of selected SNPs were observed. So, it seems evaluation of the active amino acid sites should be investigated and also the study population should be increased

Sonographic findings in partial type of trisomy 18

Trisomy 18 [Edwards syndrome] is the second most common trisomy among live born fetuses, with poor prognosis. Estimate of its incidence is between 1 in 4000- 16000 live births. Most of the chromosomal abnormalities in fetuses are detected by prenatal ultrasound findings in the first and second trimesters. In this case report, we present a partial type of trisomy 18 occurring through de novo unbalanced translocation of chromosomes 18 and 21. The ultrasound features enabling the early detection of trisomy 18 include a delayed ossification of calvarium combined with early onset of fetal growth restriction [FGR] and the absence of nasal bone through performing triple test followed by amniocentesis. Finally, the parents decided to terminate the pregnancy