Marfan Syndrome and FBN1 Mutations _ Genome Disfunction Review

Marfan Syndrome is an autosomal dominant disorder that affects connective tissue integrity, primarily caused by mutations in the FBN1 gene. The syndrome manifests in the skeletal, cardiovascular, and ocular systems, often with life-threatening aortic complications. This article explores the molecular pathogenesis of Marfan Syndrome, highlighting the role of fibrillin-1 and TGF-β signaling. Therapeutic advancements, including TGF-β antagonists and gene-editing technologies, are discussed as potential interventions for modifying disease progression.