The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection.
Annu Rev Genomics Hum Genet
; 23: 223-253, 2022 08 31.
Article
em En
| MEDLINE
| ID: mdl-36044906
ABSTRACT
Genetic predisposition and risk factors such as hypertension and smoking can instigate the development of thoracic aortic aneurysm (TAA), which can lead to highly lethal aortic wall dissection and/or rupture. Monogenic defects in multiple genes involved in the elastin-contractile unit and the TGFß signaling pathway have been associated with TAA in recent years, along with several genetic modifiers and risk-conferring polymorphisms. Advances in omics technology have also provided significant insights into the processes behind aortic wall degeneration inflammation, epigenetics, vascular smooth muscle phenotype change and depletion, reactive oxygen species generation, mitochondrial dysfunction, and angiotensin signaling dysregulation. These recent advances and findings might pave the way for a therapy that is capable of stopping and perhaps even reversing aneurysm progression.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Aneurisma da Aorta Torácica
/
Dissecção Aórtica
Tipo de estudo:
Risk_factors_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Annu Rev Genomics Hum Genet
Assunto da revista:
GENETICA
/
GENETICA MEDICA
Ano de publicação:
2022
Tipo de documento:
Article