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Review
. 2018 Oct;10(5):1241-1256.
doi: 10.1007/s12551-018-0460-1. Epub 2018 Sep 28.

Epigenetic influences on genetically triggered thoracic aortic aneurysm

Stefanie S Portelli  1 , Elizabeth N Robertson  2   3 , Cassandra Malecki  2 , Kiersten A Liddy  2 , Brett D Hambly  2 , Richmond W Jeremy  2   3
Affiliations
Review

Epigenetic influences on genetically triggered thoracic aortic aneurysm

Stefanie S Portelli et al. Biophys Rev. 2018 Oct.

Abstract

Genetically triggered thoracic aortic aneurysms (TAAs) account for 30% of all TAAs and can result in early morbidity and mortality in affected individuals. Epigenetic factors are now recognised to influence the phenotype of many genetically triggered conditions and have become an area of interest because of the potential for therapeutic manipulation. Major epigenetic modulators include DNA methylation, histone modification and non-coding RNA. This review examines epigenetic modulators that have been significantly associated with genetically triggered TAAs and their potential utility for translation to clinical practice.

Keywords: Aortic dilatation; Epigenetics; MicroRNA; Non-coding RNA; Thoracic aortic aneurysm.

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Conflict of interest statement

Conflict of interest

Stefanie Portelli declares that she has no conflict of interest. Elizabeth Robertson declares that she has no conflict of interest. Cassandra Malecki declares that she has no conflict of interest. Kiersten Liddy declares that she has no conflict of interest. Brett Hambly declares that he has no conflict of interest. Richmond Jeremy declares that he has no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Figures

Fig. 1
Fig. 1
Histology of the aortic wall medial layer from (a) normal aorta and (b) a patient with BAV and TAA, stained with Movat pentachrome. The normal aortic media (a) has long, intact parallel bands of contractile lamellar units comprising elastic lamellae (black) interspersed with VSMCs (purple), with minimal accumulation of ECM material (blue). In contrast, the BAV-TAA (b) media shows severe fragmentation of and loss of elastin fibres (arrow), loss of VSMC nuclei and increased accumulation of mucoid ECM, characteristic of medial degeneration. BAV, bicuspid aortic valve; ECM, extracellular matrix; TAA, thoracic aortic aneurysm; VSMC, vascular smooth muscle cell. Images were provided by M. Emami
See this image and copyright information in PMC

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