PROGINS Mutation of Progesterone Receptors and Its Role in Premature Birth – An Overview

  • Mirta Kadivnik* Department of Gynecology and Obstetrics, Osijek University Hospital, Osijek, Croatia
  • Andrijana Muller Department of Gynecology and Obstetrics, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Croatia; Department of Gynecology and Obstetrics, Osijek University Hospital, Osijek, Croatia
  • Iva Milić Vranješ Department of Gynecology and Obstetrics, Osijek University Hospital, Osijek, Croatia
  • Siniša Šijanović Department of Gynecology and Obstetrics, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Croatia; Department of Gynecology and Obstetrics, Osijek University Hospital, Osijek, Croatia
  • Jasenka Wagner Department of Biology and Medical Genetics, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Croatia, Department of Chemistry and Biochemistry, Faculty of Dental Medicine and Health, Josip Juraj Strossmayer University of Osijek, Croatia

Abstract

Premature birth (prior to 37 weeks of gestation) is a big medical and socioeconomic problem. It accounts for 8 -
12% of the total number of births, and apart from causing increased mortality of newborns, it is also the cause of increased morbidity. Fifteen million babies per year are born preterm. Despite the frequency, consequences and costs of premature delivery, very little has been done for preventing it, especially for preventing extremely premature deliveries (before the 28th gestation week). Etiology of premature labor is multifactorial, and includes pathophysiology, genetic and environmental factors. Recent scientific research shows that genetic factors, mostly present in the mother's genome, account for up to 40% of variation in the delivery time.
It is believed that premature birth exhibits the same cascade of events like a normal birth, only it starts sooner. This process is controlled by a series of hormonal effects between the fetus, the placenta and the mother. One of the key signaling pathways in this series is the progesterone signaling pathway.
PROGINS allele is a progesterone receptor gene modification. It is made of three variants: V660L, H770H and alu insertion. Progesterone receptors with PROGINS mutation are less susceptible to progesterone activity, and it seems that the withdrawal of progesterone causes the beginning of birth cascade. Mutation of +331 G/A progesterone receptor is a newly discovered mutation. It is believed that this mutation leads to a PR-A and PR-B receptor quantity disorder before the delivery term.
The aim of this review is to summarize all recent knowledge about PROGINS and +331 G/A mutation of progesterone receptors and to estimate whether this genetic mutation has a value in modulation of risk of preterm birth.

Keywords: premature birth, progesterone, progesterone receptors, +331 G/A progeterone receptor mutation, PROGINS mutation

Published
Apr 6, 2018
How to Cite
KADIVNIK*, Mirta et al. PROGINS Mutation of Progesterone Receptors and Its Role in Premature Birth – An Overview. Southeastern European Medical Journal, [S.l.], v. 1, n. 2, p. 55-70, apr. 2018. ISSN 2459-9484. Available at: <http://seemedj.mefos.unios.hr/index.php/seemedj/article/view/66>. Date accessed: 10 apr. 2020. doi: http://dx.doi.org/10.26332/seemedj.v1i2.66.
Section
Articles