Table 2.
Genomic mutations in heritable forms of TAADs in human
| Genes encoding for ECM defects |
| Fibrillin -1 and -2 (MFS)4 |
| Microfibril-associated Protein5 (MFAP5)41 |
| Filamin A110 |
| LOX42,111 |
| Menkes disease (ATP7A copper transporter)112 |
| Elastin (ELN)113 and Fibulin (FBLN),114 (Cutis Laxa), Emilin1 (elastin microfibril interfacer 1)115 |
| Collagen 1 α2, 3 α1, 5 α1, 5 α2 chains (Elhers-Danlos) |
| ATP7A (ATPase copper transporter, Menkes disease)116 |
| Glucuronyl transferase-1 (GAG synthesis)117 |
| Dermatan-sulphate proteoglycans118, Biglycan119 |
| NOTCH1120,121 |
| TGF-b signalling pathways (loss of function) |
| TGFBR1 and TGFBR254,122 |
| SMAD355and SMAD456 |
| TGFβ-252and -β-353 |
| TGFβ-repressor SKI (Shprintzen-Goldberg syndrome)123 |
| Contractile proteins (loss of function) |
| MYH-11 (myosin heavy chain)46 |
| ACTA2 (SM Actin)45 |
| MYLCK (myosin LC kinase)47 |
| PKG (protein kinase G, gain of function)48 |
| vSMC metabolism |
| Methionine adenyl transferase124 |
| Glucose transporter (SLC2A10)125 |
| FOXE3 (Transcription factor)126 |