Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.

ABSTRACT: Thoracic aortic aneurysms (TAA) are a significant cause of morbidity and mortality in humans. While the exact etiology is unknown, genetic factors play an important role. Mutations in NOTCH1 have been linked to bicuspid aortic valve (BAV) and aortopathy in humans. The aim of this study was to determine if haploinsufficiency of Notch1 contributes to aortopathy using Notch1^+/-; Nos3^-/- mice. Echocardiographic analysis of Notch1^+/-; Nos3^-/- mice reveals effacement of the sinotubular junction and a trend toward dilation of the aortic sinus. Furthermore, examination of the proximal aorta of Notch1^+/-; Nos3^-/- mice reveals elastic fiber degradation, a trend toward increased matrix metalloproteina

SUBMITTER: Koenig SN 

PROVIDER: S-EPMC4407710 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature