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Pathogenesis and treatments of TGFBI corneal dystrophies

Title
Pathogenesis and treatments of TGFBI corneal dystrophies
Authors
Han, Kyung EunChoi, Seung-ilKim, Tae-imMaeng, Yong -SunStulting, R. DoyleJi, Yong WooKim, Eung Kweon
Ewha Authors
한경은
SCOPUS Author ID
한경은scopusscopus
Issue Date
2016
Journal Title
PROGRESS IN RETINAL AND EYE RESEARCH
ISSN
1350-9462JCR Link
Citation
vol. 50, pp. 67 - 88
Keywords
Transforming growth factor beta-induced corneal dystrophiesTransforming growth factor beta-induced proteinGranular corneal dystrophy type 2Molecular mechanismGenetics
Publisher
PERGAMON-ELSEVIER SCIENCE LTD
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
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. (C) 2015 Elsevier Ltd. All rights reserved.
DOI
10.1016/j.preteyeres.2015.11.002
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의료원 > 의료원 > Journal papers
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