RETRACTED ARTICLE: Genetic aberrations in tissue inhibitor of metalloproteinases-3 lead to manifestations of the myofibroblast phenotype in mouse fibroblasts and fibroblasts of patients with Sorsby fundus dystrophy

Mutations in the C-terminal domain of tissue inhibitor of metalloproteinases-3 (TIMP-3) lead to autosomal dominant hereditary disease of the retina (Sorsby fundus dystrophy). Mouse knock-out and heterozygous knock-in fibroblasts and fibroblasts from patients with Sorsby fundus dystrophy exhibit some characteristics of myofibroblasts. Genetic changes in the timp-3 gene (TIMP-3) lead to a shift towards the myofibroblast phenotype in the fibroblast culture. It is hypothesized that Timp-3 (TIMP-3) plays a role of antitransformation agent preventing myofibroblast transformation in vivo and that the pathogenesis of Sorsby fundus dystrophy is associated with the loss of the antitransformation function by the mutant protein.