Genetics of the extracellular matrix in aortic aneurysmal diseases

Lin, Chien‐Jung; Lin, Chieh‐Yu; Stitziel, Nathan O.

doi:10.1016/j.matbio.2018.04.005

Cited by 23 publications

(16 citation statements)

References 142 publications

(177 reference statements)

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“…It is known that components of the ECM, SMC, and members of TGF‐β signaling pathways are crucial for normal structural integrity and development of the vessel wall . Hence, gene mutations that are involved in the above‐mentioned functions contribute to AD.…”

Section: Discussionmentioning

confidence: 99%

“…To obtain AD‐related genes, we searched in the Online Mendelian Inheritance in Man database (http://omim.org/), performed a comprehensive literature search, and used the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways (http://www.genome.jp/kegg/pathway.html) and Gene Ontology (http://www.geneontology.org) databases. Finally, by comparing the identified AD‐associated genes, 142 AD‐associated genes were selected for analysis.…”

Section: Methodsmentioning

confidence: 99%

“…Despite advances in genetic research, the pathogenic gene spectrum of AD is still incomplete and requires further exploration. The genes that cause AD can be roughly categorized into the following groups according to the protein function encoded: the components of extracellular matrix (ECM); vascular smooth muscle cell (SMC) contraction or metabolism; transforming growth factor β (TGF‐β) signaling pathways; and others …”

Section: Introductionmentioning

confidence: 99%

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Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next‐generation sequencing

et al. 2020

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Aortic dissection (AD) is a heterogeneous genetic disease with high morbidity and mortality. Although many genes predispose patients to AD, the pathogenic spectrum remains incomplete. This study aims to (a) investigate whether genotype differences exist between Stanford A and B AD individuals, and (b) broaden the pathogenic genetic spectrum of AD and reported novel variants of AD-associated genes. The DNA of 72 unrelated Han Chinese individuals with AD was tested by whole-exome prognosis of this disease is poor; about 21% of patients die of rupture before admission, and 68.2% of hospitalized patients die within 48 hours if there is no emergency surgery. 3 Based on the widely used Stanford system, dissections involving the ascending aorta are classified as Stanford A AD and those only involving the descending aorta are classified as Stanford B AD. 4Genetic variants predispose individuals to this aortic disease and hence can be used to identify patients at risk or prevent premature deaths due to rupture or other dissection-related complications. 5

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next‐generation sequencing

et al. 2020

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“…For example, some of these familial TAA patients harbor established monogenic forms of disease, like Marfan or Loeys-Dietz syndromes. However, it is reported that up to 20% of individuals with thoracic disease do not have a syndrome but do have related family members with disease (Familial Thoracic Aortic Aneurysm and Dissection or FTAAD) [ 27 ]. The risk factors associated with AAA include increasing age, male sex and lifestyle-related risk factors, like smoking, hypertension and hypercholesterolemia, which share many risk factors with atherosclerotic cardiovascular disease [ 28 ].…”

Section: Aadmentioning

confidence: 99%

“…VSMCs in TAAD changed the phenotype from contractile to synthetic, and enriched with the expression of elastin- and collagen-degrading MMPs at the site of dissection [ 31 ]. In addition, lysyl oxidase (LOX) is a copper-dependent amine oxidase that catalyzes the formation of cross-linking in collagen fibers and elastic lamellae [ 27 ]. β-Aminopropionitrile (BAPN)-treated animals have been widely used as a model of AAD.…”

Section: Aadmentioning

confidence: 99%

Current progress of fluoroquinolones-increased risk of aortic aneurysm and dissection

Cui

Bian

2021

BMC Cardiovasc Disord

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Aortic aneurysm (AA) and aortic dissection (AD) are major life-threatening diseases around the world. AA is a localized or diffuse dilation of the aorta, while AD is the separation of the layers creating a false lumen within the aortic wall. Fluoroquinolones (FQ) remain one of the most important kind of antibiotics and have a wider clinical use and broad antibacterial spectrum. FQ were also reported to treat infected AA. The most common adverse events (AEs) of FQ are mild and reversible, like headaches, diarrhea and nausea. Due to FQ-related serious AEs, such as tendonitis and tendon rupture, chondrotoxicity, or retinal detachment, QT-prolongation and dysglycemia, the United States Food and Drug Administration (FDA) issued a black box warning for FQ for systemic use in 2016 and updated warnings for FQ several times since then. Of note, in December 2018, FDA issued several “black box warnings” against FQ with the latest safety announcement warning about an increased risk of ruptures in the aorta blood vessel in certain patients. Recently, many studies have indicated an association between FQ and an increase risk of AA and AD. However, the exact mechanism of FQ-induced AA/AD remains unclear. This review aims to highlight the latest research progress of the alarming association between FQ and AA/AD. Moreover, molecular mechanisms of FQ in increasing risk of AA and AD are explored. Hopefully, this review can provide novel insights into FQ-increased the risk of AA/AD and a starting place for stewardship interventions.

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Impacts of molecular drivers in aortic dissection

Tian,

Chen,

Tan

2024

Clinical and Translational Dis

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BackgroundAortic dissection (AD) is a lethal cardiovascular emergency involving high mortality and disability. However, its specific pathogenesis remains to be elucidated.MethodsA bibliometric analysis based on the Web of Science database, VOSviewer software and Citex platforms was conducted to have a knowledge of the development trends, frontiers and hot spots of AD. Subsequently, the top five AD‐related genes from the titles and abstracts of published literature were searched. Lastly, the roles of the top five genes and their encoded proteins in the onset of AD were reviewed.ResultsThe bibliometrics showed that most studies are exploring the molecular drivers related to AD, especially gene mutations. The top five AD‐related genes were transforming growth factor‐β (TGFB)‐related genes, elastin (ELN), fibrillin‐1 (FBN1), angiotensinogen (AGT) and matrix metalloproteinase 9 (MMP9). In particular, regulation of the structure of elastic fiber by TGFB‐related genes, ELN and FBN1, appears to be the principal mechanism contributing to AD onset. Activation of the renin‐angiotensin system is the principal mechanism by which AGT triggers AD. MMP9 promotes the formation and development of AD by degrading extracellular matrix components.ConclusionTGFB, ELN, FBN1, AGT and MMP9 are the five top molecular drivers of AD, providing a comprehensive mechanistic insight into AD.

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Genetics of the extracellular matrix in aortic aneurysmal diseases

Cited by 23 publications

References 142 publications

Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next‐generation sequencing

Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next‐generation sequencing

Current progress of fluoroquinolones-increased risk of aortic aneurysm and dissection

Impacts of molecular drivers in aortic dissection

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