Abstract
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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
