Research Article: The Fbn1 gene variant governs passive ascending aortic mechanics in the mg?lpn mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency
Abstract:
Introduction: Ascending thoracic aortic aneurysms arise from pathological tissue remodeling that leads to abnormal wall dilation and increases the risk of fatal dissection/rupture. Large variability in disease manifestations across family members who carry a causative genetic variant for thoracic aortic aneurysms suggests that genetic modifiers may exacerbate clinical outcomes. Decreased perlecan expression in the aorta of mg?lpn mice with severe Marfan syndrome phenotype advocates for exploring perlecan-encoding Hspg2 as a candidate modifier gene.
No summary available.