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Pathogenesis and treatments of TGFBI corneal dystrophies

 Kyung Eun Han  ;  Seung-il Choi  ;  Tae-im Kim  ;  Yong-Sun Maeng  ;  R. Doyle Stulting  ;  Yong Woo Ji  ;  Eung Kweon Kim 
 Progress in Retinal and Eye Research, Vol.50 : 67-88, 2016 
Journal Title
 Progress in Retinal and Eye Research 
Issue Date
Autophagy/physiology ; Cornea/metabolism ; Corneal Dystrophies, Hereditary*/etiology ; Corneal Dystrophies, Hereditary*/genetics ; Corneal Dystrophies, Hereditary*/metabolism ; Corneal Dystrophies, Hereditary*/therapy ; Fibroblasts/pathology ; Genetic Predisposition to Disease ; Humans ; Mutation ; Oxidative Stress/physiology ; Transforming Growth Factor beta/metabolism*
Genetics ; Granular corneal dystrophy type 2 ; Molecular mechanism ; Transforming growth factor beta-induced corneal dystrophies ; Transforming growth factor beta-induced protein
Transforming growth factor beta-induced (TGFBI) corneal dystrophies are a group of inherited progressive corneal diseases. Accumulation of transforming growth factor beta-induced protein (TGFBIp) is involved in the pathogenesis of TGFBI corneal dystrophies; however, the exact molecular mechanisms are not fully elucidated. In this review article, we summarize the current knowledge of TGFBI corneal dystrophies including clinical manifestations, epidemiology, most common and recently reported associated mutations for each disease, and treatment modalities. We review our current understanding of the molecular mechanisms of granular corneal dystrophy type 2 (GCD2) and studies of other TGFBI corneal dystrophies. In GCD2 corneal fibroblasts, alterations of morphological characteristics of corneal fibroblasts, increased susceptibility to intracellular oxidative stress, dysfunctional and fragmented mitochondria, defective autophagy, and alterations of cell cycle were observed. Other studies of mutated TGFBIp show changes in conformational structure, stability and proteolytic properties in lattice and granular corneal dystrophies. Future research should be directed toward elucidation of the biochemical mechanism of deposit formation, the relationship between the mutated TGFBIp and the other materials in the extracellular matrix, and the development of gene therapy and pharmaceutical agents.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
5. Research Institutes (연구소) > Corneal Dystrophy Research Institute (각막이상증연구소) > 1. Journal Papers
Yonsei Authors
Kim, Eung Kweon(김응권) ORCID logo https://orcid.org/0000-0002-1453-8042
Kim, Tae Im(김태임) ORCID logo https://orcid.org/0000-0001-6414-3842
Maeng, Yong Sun(맹용선) ORCID logo https://orcid.org/0000-0003-1694-8405
Ji, Yong Woo(지용우)
Choi, Seung Il(최승일) ORCID logo https://orcid.org/0000-0001-7168-8795
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