Literature DB >> 9640198

Quantitative analysis of lipid deposits from Schnyder's corneal dystrophy.

M Yamada1, H Mochizuki, Y Kamata, Y Nakamura, Y Mashima.   

Abstract

AIM: To report the quantitation of the lipid composition of a corneal button from a Japanese woman in her 60s with clinically and histopathologically proved Schnyder's corneal dystrophy.
METHODS: Total lipids extracted from the corneal button of the patient were analysed by the method of thin layer chromatography flame ionisation detection. Two different solvent systems were used for neutral lipid analysis and phospholipid analysis. Results were compared with three age matched corneal buttons obtained from cadaveric eyes.
RESULTS: The lipids that accumulated in the cornea in Schnyder's dystrophy consisted mainly of unesterified cholesterol and phospholipids. The analysis of phospholipids showed sphingomyelin to be the predominant phospholipid in the patient's cornea.
CONCLUSION: Findings suggest that this disorder involves a disturbance of the metabolism of cholesterol and/or sphingomyelin metabolism that is limited to the cornea.

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Year:  1998        PMID: 9640198      PMCID: PMC1722539          DOI: 10.1136/bjo.82.4.444

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN: 0007-1161            Impact factor:   4.638


  21 in total

1.  A perchloric acid-naphthoquinone method for the histochemical localization of cholesterol.

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Authors:  A J Bron
Journal:  Cornea       Date:  1989       Impact factor: 2.651

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Journal:  Br J Ophthalmol       Date:  1972-05       Impact factor: 4.638

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7.  Unesterified cholesterol in Schnyder's corneal crystalline dystrophy.

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Journal:  Am J Ophthalmol       Date:  1987-08-15       Impact factor: 5.258

8.  Crystalline stromal dystrophy: histochemistry and ultrastructure of the cornea.

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Journal:  Br J Ophthalmol       Date:  1980-01       Impact factor: 4.638

9.  A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.

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Journal:  Proc Natl Acad Sci U S A       Date:  1985-12       Impact factor: 11.205

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  8 in total

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2.  A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.

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3.  The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase.

Authors:  Marc M Schumacher; Rania Elsabrouty; Joachim Seemann; Youngah Jo; Russell A DeBose-Boyd
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4.  Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice.

Authors:  Youngah Jo; Jason S Hamilton; Seonghwan Hwang; Kristina Garland; Gennipher A Smith; Shan Su; Iris Fuentes; Sudha Neelam; Bonne M Thompson; Jeffrey G McDonald; Russell A DeBose-Boyd
Journal:  Elife       Date:  2019-02-20       Impact factor: 8.140

5.  Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.

Authors:  Shi-You Jiang; Jing-Jie Tang; Xu Xiao; Wei Qi; Suqian Wu; Chao Jiang; Jiaxu Hong; Jianjiang Xu; Bao-Liang Song; Jie Luo
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Review 6.  Corneal dystrophies.

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Journal:  Orphanet J Rare Dis       Date:  2009-02-23       Impact factor: 4.123

7.  Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

Authors:  Andrew Orr; Marie-Pierre Dubé; Julien Marcadier; Haiyan Jiang; Antonio Federico; Stanley George; Christopher Seamone; David Andrews; Paul Dubord; Simon Holland; Sylvie Provost; Vanessa Mongrain; Susan Evans; Brent Higgins; Sharen Bowman; Duane Guernsey; Mark Samuels
Journal:  PLoS One       Date:  2007-08-01       Impact factor: 3.240

8.  Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.

Authors:  Jodhbir S Mehta; Eranga N Vithana; Divya Venkataraman; Anandalakshmi Venkatraman; Rebekah Poh; Roger W Beuerman; Tin Aung; Donald T H Tan
Journal:  Mol Vis       Date:  2008-07-09       Impact factor: 2.367

  8 in total

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