Abnormal PDGFRα signaling has been implicated in various diseases, including cancers, fibrotic diseases, and developmental disorders. For example:
Gastrointestinal Stromal Tumors (GISTs): Mutations in the PDGFRA gene are often found in GISTs, leading to uncontrolled cell proliferation. Idiopathic Pulmonary Fibrosis (IPF): Overexpression of PDGFRα has been linked to the fibrotic processes in IPF, contributing to excessive tissue scarring. Congenital Abnormalities: Disruption in PDGFRα signaling can result in developmental defects affecting multiple organ systems.
