Which signaling pathway is implicated in hereditary hemorrhagic telangiectasia?

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Multiple Choice

Which signaling pathway is implicated in hereditary hemorrhagic telangiectasia?

Explanation:
Hereditary hemorrhagic telangiectasia is driven by mutations in ENG and ACVRL1, which encode components of the TGF-beta/BMP signaling axis in endothelial cells. This signaling pathway governs endothelial cell behavior and vessel maturation; when it’s disrupted, normal angiogenesis is perturbed, leading to fragile telangiectasias and arteriovenous malformations that bleed. Downstream SMAD signaling is affected, promoting abnormal vessel formation. While Notch, Wnt, and Hedgehog pathways also influence blood vessels, they are not the primary pathway implicated in this condition.

Hereditary hemorrhagic telangiectasia is driven by mutations in ENG and ACVRL1, which encode components of the TGF-beta/BMP signaling axis in endothelial cells. This signaling pathway governs endothelial cell behavior and vessel maturation; when it’s disrupted, normal angiogenesis is perturbed, leading to fragile telangiectasias and arteriovenous malformations that bleed. Downstream SMAD signaling is affected, promoting abnormal vessel formation. While Notch, Wnt, and Hedgehog pathways also influence blood vessels, they are not the primary pathway implicated in this condition.

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