scholarly journals MicroRNAs involve in bicuspid aortic aneurysm: pathogenesis and biomarkers

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Hao Jia ◽  
Le Kang ◽  
Zhen Ma ◽  
Shuyang Lu ◽  
Ben Huang ◽  
...  

AbstractThe incidence of bicuspid aortic valves (BAV) is high in the whole population, BAV-related thoracic aortic aneurysm (TAA) is accompanied by many adverse vascular events. So far, there are two key points in dealing with BAV-related TAA. First is fully understanding on its pathogenesis. Second is optimizing surgical intervention time. This review aims to illustrate the potential role of miRNAs in both aspects, that is, how miRNAs are involved in the occurrence and progression of BAV-related TAA, and the feasibilities of miRNAs as biomarkers.

2018 ◽  
Vol 34 (10) ◽  
pp. S120
Author(s):  
J. Rooprai ◽  
M. Boodhwani ◽  
L. Beauchesne ◽  
K. Chan ◽  
C. Dennie ◽  
...  

2015 ◽  
Vol 24 ◽  
pp. S403-S404
Author(s):  
E. Robertson ◽  
Y. Lu ◽  
M. Kekic ◽  
B. Hambly ◽  
R. Jeremy

2015 ◽  
Vol 18 (4) ◽  
pp. 134 ◽  
Author(s):  
Asad A Shah

<p><strong>Background:  </strong>Bicuspid aortic valves predispose to ascending aortic aneurysms, but the mechanisms underlying this aortopathy remain incompletely characterized.  We sought to identify epigenetic pathways predisposing to aneurysm formation in bicuspid patients.</p><p><strong>Methods:  </strong>Ascending aortic aneurysm tissue samples were collected at the time of aortic replacement in subjects with bicuspid and trileaflet aortic valves.  Genome-wide DNA methylation status was determined on DNA from tissue using the Illumina 450K methylation chip, and gene expression was profiled on the same samples using Illumina Whole-Genome DASL arrays.  Gene methylation and expression were compared between bicuspid and trileaflet individuals using an unadjusted Wilcoxon rank sum test.  </p><p><strong>Results:  </strong>Twenty-seven probes in 9 genes showed significant differential methylation and expression (P&lt;5.5x10<sup>-4</sup>).  The top gene was protein tyrosine phosphatase, non-receptor type 22 (<em>PTPN22</em>), which was hypermethylated (delta beta range: +15.4 to +16.0%) and underexpressed (log 2 gene expression intensity: bicuspid 5.1 vs. trileaflet 7.9, P=2x10<sup>-5</sup>) in bicuspid patients, as compared to tricuspid patients.  Numerous genes involved in cardiovascular development were also differentially methylated, but not differentially expressed, including <em>ACTA2</em> (4 probes, delta beta range:  -10.0 to -22.9%), which when mutated causes the syndrome of familial thoracic aortic aneurysms and dissections</p><p><strong>Conclusions:  </strong>Using an integrated, unbiased genomic approach, we have identified novel genes associated with ascending aortic aneurysms in patients with bicuspid aortic valves, modulated through epigenetic mechanisms.  The top gene was <em>PTPN22</em>, which is involved in T-cell receptor signaling and associated with various immune disorders.  These differences highlight novel potential mechanisms of aneurysm development in the bicuspid population.</p>


Aorta ◽  
2019 ◽  
Vol 07 (04) ◽  
pp. 099-107 ◽  
Author(s):  
Thais Faggion Vinholo ◽  
Adam J. Brownstein ◽  
Bulat A. Ziganshin ◽  
Mohammad A. Zafar ◽  
Helena Kuivaniemi ◽  
...  

AbstractThoracic aortic aneurysm is a typically silent disease characterized by a lethal natural history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection (TAAD) almost 2 decades ago, our understanding of the genetics of this disorder has undergone a transformative amplification. To date, at least 37 TAAD-causing genes have been identified and an estimated 30% of the patients with familial nonsyndromic TAAD harbor a pathogenic mutation in one of these genes. In this review, we present our yearly update summarizing the genes associated with TAAD and the ensuing clinical implications for surgical intervention. Molecular genetics will continue to bolster this burgeoning catalog of culprit genes, enabling the provision of personalized aortic care.


2016 ◽  
Vol 67 (13) ◽  
pp. 2295
Author(s):  
Aiham Jbeli ◽  
Michael Hagler ◽  
Carolyn Roos ◽  
Thoralf Sundt ◽  
Jordan Miller

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