What are the Histological Features of Tissues Affected by fbn1 Mutations?
Mutations in the fbn1 gene can lead to abnormal fibrillin-1 production, affecting the structural integrity of tissues. In histological sections, tissues with fbn1 mutations may exhibit:
Disorganized Microfibrils: Microfibrils may appear fragmented or irregular. Elastin Deficiency: Reduced or abnormal elastic fibers can be observed. Increased TGF-β Activity: Elevated levels of active TGF-β due to reduced sequestration. Fibrosis: Excessive deposition of ECM components, leading to tissue stiffness and scarring.
