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Hongfei Ye, Yongxiang Jiang, Peng Zhou, Yi Lu; LOXL 1 hypermethylation in pseudoexfoliation syndrome in the Uygur population. Invest. Ophthalmol. Vis. Sci. 2014;55(13):5041.
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© ARVO (1962-2015); The Authors (2016-present)
High prevalence of exfoliation syndrome (XFS) occurred in the Uygur pupolation. This study investigated the DNA methylation of lysyloxidese-like 1(LOXL1) gene in XFS patients having cataract in Uygur patients.
The research involved ten lens capsule specimens from XFS with cataract Uygur patients and ten from Uygur control patients with cataract alone. All the specimens were freshly collected during cataract surgery. Methylation status of the CpG islands was analyzed using bisulfate genomic sequencing. The mRNA and protein level of LOXL1 were evaluated by reverse-transcription PCR and Western blot.
For all the 6 chosen CpG islands of LOXL1 gene promoter, hypermethylation were found in XFS with cataract group compared to the age-matched control group. At the same time the mRNA and protein expression were significantly reduced in XFS group than that in control group.
As the susceptibility gene of XFS, LOXL 1 gene undergoes DNA hypermethylation in its promoter region in Uygur XFS patients with cataract. This indicates that epigenetic regulation might play roles in XFS pathogenesis.
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