Misfolding linked mutations of SERPINA1 gene are uncommon in preeclampsia

Abstract

Background: Alpha-1 antitrypsin (A1AT) is a protease inhibitor that plays an important role in regulating oxidative stress in preeclampsia (PE). Recent studies have shown that A1AT is misfolded in PE. However, the cause of A1AT misfolding is not known. Mutations in SERPINA1 gene is an established source of A1AT deficiency. PiS and PiZ are the two common misfolding-associated mutations in the SERPINA1 gene. Objective: The purpose of this study was to evaluate the frequency of PiS and PiZ mutations in the SERPINA1 gene in preeclamptic women. Materials and Methods: We carried out a cross-sectional study by including 200 preeclamptic pregnant women. PiS and PiZ mutations in the SERPINA1 gene were genotyped by using polymerase chain reaction-restriction fragment length polymorphism method. Results: PiS and PiZ mutations were absent both in homozygous and heterozygous conditions in the preeclamptic womenConclusion: PiS and PiZ mutations in the SERPINA1 gene may not be associated with A1AT misfolding in PE.