scholarly journals Impaired autophagy and delayed autophagic clearance of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy type 2

Autophagy ◽  
2012 ◽  
Vol 8 (12) ◽  
pp. 1782-1797 ◽  
Author(s):  
Seung-Il Choi ◽  
Bong-Yoon Kim ◽  
Shorafidinkhuja Dadakhujaev ◽  
Jun-Young Oh ◽  
Tae-Im Kim ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Granular Corneal Dystrophy

scholarly journals Mutation-induced dimerization of transforming growth factor-β-induced protein (TGFBIp) may drive protein aggregation in granular corneal dystrophy

2021 ◽  
pp. 100858
Author(s):  
Nadia Sukusu Nielsen ◽  
Trine A.F. Gadeberg ◽  
Ebbe Toftgaard Poulsen ◽  
Seandean Lykke Harwood ◽  
Christian E. Weberskov ◽  
...  
Keyword(s):  
Growth Factor ◽  
Protein Aggregation ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Granular Corneal Dystrophy

scholarly journals A Case of Transforming Growth Factor-β-Induced Gene-Related Oculorenal Syndrome: Granular Corneal Dystrophy Type II with a Unique Nephropathy

2016 ◽  
Vol 6 (3) ◽  
pp. 106-113 ◽  
Author(s):  
Yoichi Iwafuchi ◽  
Tetsuo Morioka ◽  
Yuko Oyama ◽  
Kandai Nozu ◽  
Kazumoto Iijima ◽  
...  
Keyword(s):  
Growth Factor ◽  
Basement Membrane ◽  
Transforming Growth Factor ◽  
Kidney Diseases ◽  
Renal Involvement ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Renal Diseases ◽  
Type Ii ◽  
Granular Corneal Dystrophy

Many types of inherited renal diseases have ocular features that occasionally support a diagnosis. The following study describes an unusual example of a 40-year-old woman with granular corneal dystrophy type II complicated by renal involvement. These two conditions may coincidentally coexist; however, there are some reports that demonstrate an association between renal involvement and granular corneal dystrophy type II. Granular corneal dystrophy type II is caused by a mutation in the transforming growth factor-β-induced (TGFBI) gene. The patient was referred to us because of the presence of mild proteinuria without hematuria that was subsequently suggested to be granular corneal dystrophy type II. A kidney biopsy revealed various glomerular and tubular basement membrane changes and widening of the subendothelial space of the glomerular basement membrane by electron microscopy. However, next-generation sequencing revealed that she had no mutation in a gene that is known to be associated with monogenic kidney diseases. Conversely, real-time polymerase chain reaction, using a simple buccal swab, revealed TGFBI heteromutation (R124H). The TGFBI protein plays an important role in cell-collagen signaling interactions, including extracellular matrix proteins which compose the renal basement membrane. This mutation can present not only as corneal dystrophy but also as renal disease. TGFBI-related oculorenal syndrome may have been unrecognized. It is difficult to diagnose this condition without renal electron microscopic studies. To the best of our knowledge, this is the first detailed report of nephropathy associated with a TGFBI mutation.

Deposits of Transforming Growth Factor-β-Induced Protein in Granular Corneal Dystrophy Type II After LASIK

Cornea ◽  
2008 ◽  
Vol 27 (1) ◽  
pp. 28-32 ◽  
Author(s):  
Tae-im Kim ◽  
Mi In Roh ◽  
Hans E Grossniklaus ◽  
Shin Jeong Kang ◽  
Stephen M Hamilton ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Dystrophy ◽  
Type Ii ◽  
Granular Corneal Dystrophy

Overexpression of angiotensin type 2 receptor ameliorates glomerular injury in a mouse remnant kidney model

2004 ◽  
Vol 286 (3) ◽  
pp. F516-F525 ◽  
Author(s):  
Naoko Hashimoto ◽  
Yohei Maeshima ◽  
Minoru Satoh ◽  
Masahiro Odawara ◽  
Hitoshi Sugiyama ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Smooth Muscle Actin ◽  
Transforming Growth Factor Β ◽  
Glomerular Injury ◽  
Wild Mice ◽  
Angiotensin Type 2 Receptor ◽  
Glomerular Size ◽  
Nitric Oxide Metabolites

Angiotensin II mediates the progression of renal disease through the type 1 receptor (AT1R). Recent studies have suggested that type 2 receptor (AT2R)-mediated signaling inhibits cell proliferation by counteracting the actions of AT1R. The aim of the present study was to determine the effect of AT2R overexpression on glomerular injury induced by ⅚ nephrectomy (⅚Nx). AT2R transgenic mice (AT2-Tg), overexpressing AT2R under the control of α-smooth muscle actin (α-SMA) promoter, and control wild-type mice (Wild) were subjected to ⅚Nx. In AT2-Tg mice, the glomerular expression of AT2R was upregulated after ⅚Nx. Urinary albumin excretion at 12 wk after ⅚Nx was decreased by 33.7% in AT2-Tg compared with Wild mice. Glomerular size in AT2-Tg mice was significantly smaller than in Wild mice after ⅚Nx (93.1 ± 3.0 vs. 103.3 ± 1.8 μm; P < 0.05). Immunohistochemistry revealed significant decreases in glomerular expression of platelet-derived growth factor-BB chain (PDGF-BB) and transforming growth factor-β1 (TGF-β1) in AT2-Tg with ⅚Nx compared with Wild mice. Urinary excretion of nitric oxide metabolites was increased 2.5-fold in AT2-Tg compared with Wild mice. EMSA showed that activation of early growth response gene-1, which induces the transcription of PDGF-BB and TGF-β1, was decreased in AT2-Tg mice. These changes in AT2-Tg mice at 12 wk after ⅚Nx were blocked by the AT2R antagonist PD-123319. Taken together, our findings suggest that AT2R-mediated signaling may protect from glomerular injuries induced by ⅚Nx and that overexpression of AT2R may serve as a potential therapeutic strategy for glomerular disorders.

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