Skip to main content
. Author manuscript; available in PMC: 2020 Mar 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Feb 16;181(1):117–125. doi: 10.1002/ajmg.c.31686

Figure 10. Theoretical model of aortic disease pathogenesis in TS.

Figure 10.

This model depicts the proposed pathogenic events underlying aortopathy in Turner syndrome. We propose that there is an inherent imbalance in the TIMP/MMP ratio that leads to the degradation of the ECM, including fibrillin-1 microfibrils. As in Marfan syndrome this releases active TGFβ resulting in an increase in TGFβ signaling. One of the consequences of TGFβ signaling is an increase in MMP expression, which feeds into the TIMP/MMP imbalance. There is also a feedback loop through which increased MMP activity proteolytically cleaves latent TGFβ producing the active form.