Abstract
Thoracic aortic aneurysm (TAA) is an asymptomatic and progressive dilatation of the
thoracic aorta. Ascending aortic dissection (AAD) is an acute intraparietal tear,
occurring or not on a pre-existing dilatation. AAD is a condition associated with
a poor prognosis and a high mortality rate. TAA and AAD share common etiology as monogenic
diseases linked to transforming growth factor β signaling pathway, extracellular matrix
defect, or smooth muscle cell protein mutations. They feature a complex pathogenesis
including loss of smooth muscle cells, altered phenotype, and extracellular matrix
degradation in aortic media layer. A better knowledge of the mechanisms responsible
for TAA progression and AAD occurrence is needed to improve healthcare, nowadays mainly
consisting of aortic open surgery or endovascular replacement. Recent breakthrough
discoveries allowed a deeper characterization of the mechanisms of gene regulation.
Since alteration in gene expression has been linked to TAA and AAD, it is conceivable
that a better knowledge of the causes of this alteration may lead to novel theranostic
approaches. In this review article, the authors will focus on epigenetic regulation
of gene expression, including the role of histone methylation and acetylation, deoxyribonucleic
acid methylation, and noncoding ribonucleic acids in the pathogenesis of TAA and AAD.
They will provide a translational perspective, presenting recent data that motivate
the evaluation of the potential of epigenetics to diagnose TAA and prevent AAD.
Keywords
noncoding RNAs - histone acetylation - DNA methylation
