Arterial thrombosis in Hutchinson-Gilford Progeria Syndrome

Abstract Introduction Arterial thrombosis is the most common age-associated event underlying major adverse cardiovascular (CV) events. The interplay between vascular endothelium, platelets, and coagulation cascade leads to thrombus formation, which results in cessation of blood supply downstream tissues. Hutchinson-Gilford Progeria Syndrome (HGPS) a rare genetic condition with striking features premature aging. It caused by defects nuclear A-type lamin gene, leading intracellular accumulation progerin. This disorder characterized shortened lifespan, primarily due an increased incidence myocardial infarction ischemic stroke. Declined function compliance have been reported HGPS patients. Nevertheless, effect specific gene mutation on formation has not investigated previously. Methods 28- 30-week-old male female transgenic heterozygous LmnaG609G knock-in mice corresponding wild-type (WT) littermate controls were exposed photochemically-induced carotid artery endothelial injury trigger arterial thrombosis. Vascular circulating levels tissue factor (TF), plasminogen activator inhibitor (PAI)-1, von Willebrand (vWF) measured using enzyme-linked immunosorbent assay (ELISA). TF activity was also performed homogenates WT animals. Results displayed accelerated compared animals as underlined time occlusion. Although this finding suggests activation extrinsic cascade, no significant differences found expression lysates. Circulating fibrinolytic PAI-1 be similar Furthermore, difference plasma vWF two groups observed. Conclusions Our show thrombotic response littermates. novel observation could provide mechanistic explanation for acute events observed Further studies will conducted investigate molecular mechanism effects, particular, potential involvement platelets. Funding Acknowledgement Type funding sources: None.