The Role of Genes Associated with Monogenic Forms of Thoracic Aortic Aneurysm and Hypercholesterolemia in the Formation of Comorbidity between Aortic Aneurysm and Atherosclerosis

The review discusses the role of genes associated with monogenic forms of thoracic aortic aneurysm (TAA) and hypercholesterolemia (HCL) in the development of inverse comorbidity between TAA and atherosclerosis (AS). This focus of the study was chosen considering that, according to several clinical observations, AS is rarely detected in patients with TAA. According to the results from the studies performed on samples of patients with TAA and AS, as well as on model organisms, it can be concluded that individual genes associated with monogenic forms of TAA, including those regulating the process of arterial development through the TGF-β signaling pathway (LOX, MYLK, NOTCH1, TGFBR1, TGFBR2, SLC2A10, ACTA2, SMAD3, FBN1, BGN), and hypercholesterolemia (ABCA1, APOE,LDLR, LDLRAP1, PCSK9, EPHX2, LIPA, GHR) are potentially important in creating, in some cases, conditions favorable for the formation of inverse comorbidity between TAA and AS. Moreover, changes in the structure and function of one gene of monogenic forms of TAA can lead to dynamic changes in the transcription of other TAA and HCL genes, and their effects on the risk of developing these diseases can be multidirectional in different cell types and dependent on the stage of the pathological process.

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