O gene STOX1 na pré-clâmpsia

Abstract

Preeclampsia (PE) is a serious disease of pregnancy, whose main characteristics are increased blood pressure, proteinuria and/or damage to target organs (thrombocytopenia, liver dysfunction, renal failure and pulmonary edema). The pathophysiology of PE begins with changes in the trophoblastic invasion process, which causes an inadequate blood supply to the placental tissue. PE still does not have a definitive therapeutic intervention, so pregnant women affected by this disease need to deliver to remove the placenta, as a form of effective treatment. In general, PE can be explained in part by genetic predispositions due to its multigenic and multifactorial character. Despite its multigenic character, studies show that mutations in the STOX1 gene, such as the Y153H variant, increase the predisposition to the development of PE, as it reduces the trophoblastic invasion of the uterine wall. Furthermore, this gene can be used as a target in gene therapy for PE.