PHYSIOLOGICAL AND GENETIC STUDIES IN UTERINE FIBROMA OF WOMEN

HAMDY H. IBRAHIM¹, WAFAA M. EL-KHOLY², AFAF M. EL SAIED³, REHAB ELMOUGY⁴*, HEND SHALABY⁵, HUWAIDA M. DOMA^6
1Department of Zoology, Faculty of Science, Mansoura University, Mansoura, 35516, Egypt
²Department of Zoology, Faculty of Science, Mansoura University, Mansoura, 35516, Egypt
³Genetics Unit, Childern Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt
⁴Department of Chemistry, Faculty of Science, Mansoura University, Mansoura 35516, Egypt
⁵Department of Obstetrics and Gynaecology, Faculty of Medicine, Mansoura University, Mansoura, Egypt
⁶Department of Zoology, Faculty of Science, University of Omar Mukhtar, Lybia
* Corresponding Author : rehab.elmougy@yahoo.com

Received : 17-06-2016     Accepted : 21-07-2016     Published : 28-07-2016
Volume : 8     Issue : 3       Pages : 194 - 200
Genetics 8.3 (2016):194-200

Keywords : Fibroid disease, Estradiol¸ Prolactin, PCR, XRCC1
Academic Editor : Dr Arjun Ballal
Conflict of Interest : None declared
Acknowledgements/Funding : The authors would like to thank the editor as well as the referees for their invaluable and constructive comments that helped to improve the manuscript.
Author Contribution : None declared

Background: Uterine leiomyoma (UL), also named as uterine fibroid (UF), is the most common benign gynecologic tumors in reproductive aged women arising from the smooth muscle cells of the endometrium. The exact etiology of the disease is not clearly understood, but working hypothesis suggested that genetic predisposition, prenatal hormone exposure and the effect of hormones, growth factor and xenoestrogen cause fibroid growth. A striking feature of uterine fibroids is their dependency on the ovarian steroids estrogen and progesterone. Oxidative stress has been shown to be a major player in common pro fibrotic gynecologic disorders such as fibroids, endometriosis and postoperative adhesions. The X-ray repair cross -complementing group 1 (XRCC1) gene is an important component of DNA repair and encodes a scaffolding protein that participates in the base excision repair (BER) pathway and number of its single nucleotide polymorphisms (SNPs) have been considered as a modifying risk factor for a variety of cancer types. Aims and objectives: In this study, we aimed to measuring serum concentrations of prolactin and estradiol hormones, evaluating some oxidative stress markers (e.g., malondialdehyde (MDA), Hydrogen peroxide (H2O2) and nitic oxide (NO)), assaying the activity of some antioxidant enzymes (e.g., superoxide dismutase (SOD), catalase (CAT), glutathione reductase (GR) and glutathione peroxidase (Gpx)) and evaluating serum concentration of some biochemical markers (e.g., alanine transaminase (ALT), aspartate transaminase (AST), acid phosphatase (ACP), total protein (TP), and albumin and globulin). Our study is also done to investigate whether XRCC1 Arg194Trp and Arg399Gln polymorphisms are related to uterine leiomyoma disease or not. Methods: Whole blood DNA was extracted from 85 UF patients and 85 healthy volunteers. Tetra-primer amplification refractory mutation system (ARMS) was performed for the detection of XRCC1 Arg399Gln and Arg194Trp polymorphisms. Results: Our results investigated that serum concentrations of prolactin and estradiol hormones and oxidative stress markers significantly increased in contrast impaired antioxidant status. Conclusion: Our study indicated that the Arg/Gln and Gln/Gln genotypes are associated with higher risk of uterine leiomyoma than the Arg/Arg genotype.