LOXL1 Hypermethylation in Pseudoexfoliation Syndrome in the Uighur Population

Investigative Ophthalmology & Visual Science
Hongfei YeYi Lu

Abstract

High prevalence of pseudoexfoliation syndrome (PEX) occurs in the Uighur population. This study investigated DNA methylation of the lysyloxidase-like 1 (LOXL1) gene in Uighur PEX patients with cataracts. The research involved 10 lens capsule specimens from Uighur PEX patients with cataracts and 10 lens capsule specimens from Uighur control patients with age-related cataract (ARC) alone. All specimens were freshly collected during cataract surgery. Methylation status of the CpG islands was analyzed using pyrosequencing. The mRNA levels of LOXL1 were evaluated by quantitative real-time PCR, and protein levels were evaluated by Western blot assay. For all the six chosen CpG islands of the LOXL1 gene promoter, hypermethylation was found in the PEX with cataracts compared to the age-matched ARC group. At the same time, the expression level of LOXL1 mRNA was significantly reduced in the PEX with cataracts group than that in the ARC group, and the expression level of the LOXL1 protein product demonstrated a similar tendency. The susceptible PEX gene LOXL1 undergoes DNA hypermethylation in its promoter region in Uighur PEX with cataracts patients. This indicates that epigenetic regulation might play roles in PEX pathogenesis.

Citations

Jul 12, 2016·Rejuvenation Research·Léa MoulinRomain Debret
Feb 9, 2018·Journal of Glaucoma·Ursula Schlötzer-Schrehardt
Jul 4, 2017·Journal of Glaucoma·William M JohnsonW Daniel Stamer
Nov 20, 2016·Cellular and Molecular Neurobiology·Yong Wang, Huaijin Guan
Jul 3, 2018·Journal of Glaucoma·Khalid KamelColm O'Brien
Nov 19, 2019·Acta Ophthalmologica·Mehdi Ghaffari SharafLarry D Unsworth
Jan 25, 2020·Journal of Ophthalmology·Michele LanzaClaudio Napoli
Jan 6, 2021·Genes·Ryan ZukermanThomas A Ciulla
Dec 18, 2020·Current Opinion in Ophthalmology·Ursula Schlötzer-Schrehardt, Chiea Chuen Khor
Feb 20, 2020·Experimental Eye Research·Alison G GreeneDeborah M Wallace
Sep 30, 2021·Clinical & Experimental Ophthalmology·Min ZhangYongxiang Jiang

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