PROGINS Mutation of Progesterone Receptors and Its Role in Premature Birth – An Overview
Premature ( or preterm ) birth ( birth prior 37 weeks of gestation ) is big worldwide medical and socioeconomic problem. It percentage is 8-12% of total number of births, and apart from the increased mortality of newborns, it is also cause of increased morbidity in for it. worldwide, as far as some statistical reviewes say, 15 million of babies per year are preterm born. Despite the frequency, consequences and costs of premature delivery, very little has been done for preventing it, especially for preventing early premature deliveries.
Etiology of premature labor is multifactorial, and includes pathophysiology, genetics and enviromental factors. Resent scientific researches, particulary in the field of human genomics, show that genetic factors, mostly present in genome of mother, contribute up to 40% variation in delivery time.
It is belived that premature birth has same cascade of events like normal birth; just in this case it starts sooner. This process is controlled by series of hormonal effects between fetus, placenta and mother. One of the key signaling pathways in this series is progesterone one.
PROGINS allele is progesterone receptor gene modification. It is built of 3 variants : V660L,H770H and alu insertion. Progesterone receptors with PROGINS mutation are less susceptible to progesteron activity, and it looks as the withdrawal of progesterone causes the beggining of birth cascade.
+331G/A progesterone receptor mutation is newly discovered mutation. It is belived that this mutation leads to PR-a an PR-B receptor quantity disorder before delivery term.
The aim of this review is to resume all recent aknowledgements about PROGINS and +331G/A mutation of progesterone receptor and see if there is the value of these genetic mutations in modulation of risk for preterm birth.
Key words premature birth, progesterone, progesterone receptors, +331 G/A progeterone receptor mutation, PROGINS mutation