Insights on the Pathogenesis of Aneurysm through the Study of Hereditary Aortopathies
Tyler J. Creamer 1,2 , Emily E. Bramel 1,3 and Elena Gallo MacFarlane 1,2,*
1 McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; tcreamer@jhmi.edu (T.J.C.); ebramel1@jhmi.edu (E.E.B.)
2 Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
3 Predoctoral Training in Human Genetics and Molecular Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
* Correspondence: egallo1@jhmi.edu
Overview
This article out of Johns Hopkins University is a review of extensive research conducted in the last few decades on aneurysm and hereditary aortopathies (hereditary disorders of the aorta). It summarizes critical features of the healthy aortic wall, the molecular functions that go along with thoracic aortic aneurysm (TAA) associated mutations (like those associated with Loeys-Dietz syndrome), and the proposed mechanisms by which these mutations disrupt aortic homeostasis, or optimal functioning of the aorta. The authors identify several key areas that require further research, including identifying new disease-causing variants not currently associated with TAA to build on what is already known about established TAA-associated mutations and using human, mouse, and stem cell models to study changes at the single-cell level for each stage of disease.
Citation: Creamer, T.J.; Bramel, E.E.; MacFarlane, E.G. Insights on the Pathogenesis of Aneurysm through the Study of Hereditary Aortopathies. Genes 2021, 12, 183. https://doi.org/ 10.3390/genes12020183
Academic Editor: Andreas Brodehl / Received: 18 December 2020 / Accepted: 22 January 2021 / Published: 27 January 2021
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