Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor.

Introduction: Mitochondrial dysfunction promotes vascular aging and disease through diverse mechanisms beyond metabolic supply, including calcium and radical signaling and inflammation. Mitochondrial DNA (mtDNA) replication by the POLG-encoded mitochondrial DNA polymerase (POLG) is critical for mitochondrial health. Loss-of-function POLG variants are associated with a predisposition to hypertension.

Clinical evaluation of a first trimester algorithm predicting the risk of hypertensive disease of pregnancy.

Background: The aim of this study is to validate the Fetal Medicine Foundation (FMF) multiple logistic regression algorithm for prediction of risk of pre-eclampsia in an Australian population. This model, which predicts risk using the population rate of pre-eclampsia, a variety of demographic factors, mean maternal arterial blood pressure (MAP), uterine artery PI (UtA PI) and pregnancy-associated plasma protein A (PAPP-A), has been shown to predict early-onset pre-eclampsia (delivery prior to 34 weeks) in 95% of women at a 10% false-positive rate.

Methods: All women who attended first trimester screening at the Royal Prince Alfred Hospital had their body mass index (BMI), MAP and UtA PI assessed in addition to factors traditionally used to assess aneuploidy (including PAPP-A MoM).