Online ISSN: 2515-8260

Keywords : genes


The Effect of COL1A and COL3A Gene Polymorphisms on Pelvic Organ Prolapse among the Women of the Belgorod Region

Alexandra S. Ustyuzhina; Sergei P. Pakhomov; Umeda G. Shokirova; Alina V. Matrosova; Ibragim M. Soliman; Larisa V. Pakhomova

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 2, Pages 102-104

Relevance: The problem of genital prolapse, despite such a long history of the
disease, still does not have a definite solution. Currently, the problem of genital
prolapse in women remains relevant due to the high impact on the social part of life.
Genital prolapse and impaired function of neighboring organs significantly reduce the
quality of life. Every year there are more and more articles linking genital prolapse with
connective tissue pathology and with a change in collagen structure. This paper
describes the relationship of polymorphisms of the collagen genes COL1A1 and
COL3A1 and pelvic organ prolapse in women. This study aimed to analyze the effect of
rs1800012 and rs1107946 polymorphisms of the COL1A1 gene, rs1800255 of the
COL3A1 gene on the development of pelvic organ prolapse in women of the Belgorod
region.
Material and Methods: In 2018 we analyzed 268 women who were residents of the
city of Belgorod and the Belgorod region, among which 2 groups were identified.
Group 1 (N = 53) included women who had signs of pelvic organ prolapse. Group 2 (N
= 215) consisted of women with an objectively proven absence of prolapse. The study
was carried out in the gynecological department of Belgorod Regional Clinical Hospital
of St. Joasaph.
Results: In our study, it was found that the frequencies of polymorphisms of the
COL1A1 and COL3A1 genes in residents of the Belgorod region did not differ from
those in representatives of European populations. Thus, in the studied population of
Belgorod women, the allele A of the rs1800255 polymorphism of the COL3A1 gene
was characterized by a protective effect in relation to the predisposition to pelvic organ
prolapse.
Conclusion: In our study, a high association of rs1800255 polymorphism of the
COL3A1 gene to pelvic organ prolapse in women of the Belgorod region was
confirmed. At the same time, no connection between the rs1800012 and rs1107946
polymorphisms of the COL1A1 gene and genital prolapse was detected.

Problematique Of Use Of The Crispr/Cas9 System To Create And Research Cellular Models Of Cardiovascular Inherited Human Diseases

Yumashev Alexei; Kamalova Dinara; Kulaeva Imani; Spaska Anastasiya

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 1, Pages 2849-2856

The genome editing technology has become a powerful method for creating genetically modified cells and organisms, necessary for the genes function and mechanisms of human disease determination. The clustered system with regularly interspaced short palindromic repeats (CRiSPR-), associated with9 (Cas9), quickly became one of the world’s major approaches to genome editing in basic biomedical research in recent years as a result of its simplicity and adaptability.
Genome editing CRiSPR/Cas9 werebeing used for correction mutating people's DNA from one base pair to large deletions both in vitro and in vivo. Model systems CRISPR/Cas9 are usedfor a better understanding of many aspects of cardiovascular disease, including lipid metabolic, electrophysiology and genetic heritage. CRiSPR/Cas9 technology has been proven to be effective for editing induced pluripotent stem cells. In spite of these gains, some biological, technical and ethical problems limit therapeutic capacity to edit the genome by cardiovascular diseases. The purpose of the study is to analyze the applications of CRiSPR/Cas9 genome editing in the cardiovascular system, for both disease research and treatment prospects by editing the genome in vivo in the future.