Table 3 Analyses of transcript modulations in aortic diseases
From: Multi-omics in thoracic aortic aneurysm: the complex road to the simplification
Aneurysm Type | Source | Pathways | Notes | Citations | ||
|---|---|---|---|---|---|---|
Species | Samples | Target | Up/Down | |||
sTAA | Human | Aortic tissue (some with dissection) and left internal thoracic arteries | Inflammation-related pathways | ↑ CDH2 |  | [117] |
↑ CYTL1 | ||||||
↑ SCG2 | ||||||
Angiogenetic pathways | ↓ HOXA5 | |||||
Pro-fibrotic mediators | ↑ COL21A1 | |||||
↑ HAPLN1 | ||||||
BAV-TAA, sTAA | Human | Non-dilated (nd) and dilated (d) aortic tissues from TAV and BAV patients | Cytoskeleton alterations | ↑ TAGLN2 in TAV (d vs nd) | Multivariate Data Analysis of Protein Expression Data | [118] |
↑ ACTN1-4 in d vs nd | ||||||
↑ MFAP4 in d vs nd | ||||||
↓ MYL6 in d vs nd | ||||||
BAV-TAA, sTAA | Human | Non-dilated and dilated aortic tissue | Valvular calcification | ↓ NOTCH1 in BAVc and TAV | BAVc = calcific BAVr = with redundant leaflets | [119] |
Proteolytic/elastolytic activity | ↓ ADAMTS9 (in BAVr) | |||||
↓ ACAN in BAVr | ||||||
↑ MMP-9 in BAVc and TAV | ||||||
MFS-TAA | Human–Murine | Skin fibroblasts | TGF-β activity; ECM structure/turnover | ↓ VDR |  | [123] |
↑ TSC2 | ||||||
↑ LMO7 | ||||||
MFS-TAA | Murine | Aortic root, aortic tissue and VSMC from MFS Fbn1C1041G/+ and ApoE−/− mice | ECM modulation and collagen synthesis; cell adhesion and proliferation | ↑ Loxl1 |  | [125] |
↑ Ctgf | ||||||
↑ Comp | ||||||
↑ Thbs1 | ||||||
↑ Klf4 | ||||||
↑ Serpin1 | ||||||
MFS-TAA | Human–Murine | Aortic tissue from Fbn1mgR/mgR | VSMC phenotype switch and differentiation | ↓ Klf4 in young mice, time-dependent increase |  | |
MFS-hiPSCs differentiated into lateral mesoderm (LM), paraxial mesoderm (PM) and NC cells | ↑ KLF4 | |||||
MFS-TAA | Human–Murine | Aortic root and VSMC from MFS-TAA and aortic tissues from Fbn1mgR/mgR mice | VSMC contractility | ↑ ACTA1 | System pharmacology–based integration of human and mouse data for drug repurposing | |
ECM components | ↑ ACAN | |||||
MFS-TAA | Human–Murine | Patients’ and Fbn1C1039G/+ aortic tissues | Mitochondrial function | ↓ Tfam |  | [61] |
↓ Ppara | ||||||
↓ Pparg | ||||||
Glycolytic metabolism | ↑ Hif1a | |||||
↑ Myc | ||||||
sTAA | Human | Aortic tissue and VSMC | Pro-apoptotic and anti-inflammatory pathways | ↓ ERG |  | [131] |
Mitochondrial function | ↑ Chromatin OXPHOS | |||||
sTAA | Human | Datasets | Inflammation-related pathways | ↑ CD3 | Bulk Transcriptome and Single-Cell RNA Sequencing Data integration | [132] |
↑ ITGAM | ||||||
Pro-fibrotic pathway | ↑ TGF- β pathway | |||||
MFS-TAA, sTAA | Human–Murine | Aortic tissues from 24-week old Fbn1C1039G/+ and ApoE−/− mice | VSMC phenotype switch and differentiation | ↑ Fn1 | DEG analysis and Single-Cell RNA Sequencing Data integration | [125] |
↑ Mgp | ||||||
↑ Nupr1 | ||||||
↑ Eln | ||||||
↑ Col1a1 | ||||||
↑ Ctgf | ||||||
↑ Serpine1 | ||||||
25-year-old male MFS patient aortic root | ↑ COL1A1 | |||||
↑ CTGF | ||||||
↑ SERPINE1 | ||||||