LOXL1 Hypermethylation in Pseudoexfoliation Syndrome in the Uighur Population.
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Department of Ophthalmology Eye and ENT Hospital of Fudan University, Shanghai, China.
Hongfei
H
Ye
Department of Ophthalmology Eye and ENT Hospital of Fudan University, Shanghai, China.
Yongxiang
Y
Jiang
Department of Ophthalmology Eye and ENT Hospital of Fudan University, Shanghai, China.
Qinghe
Q
Jing
Department of Ophthalmology Eye and ENT Hospital of Fudan University, Shanghai, China.
Dan
D
Li
Department of Ophthalmology, The Second People's Hospital Of Kashi, Xinjiang Uygur Autonomous Region, China.
Tuerhongjiang
T
Maimaiti
Department of Ophthalmology, The Second People's Hospital Of Kashi, Xinjiang Uygur Autonomous Region, China.
Dilinuer
D
Kasimu
Department of Ophthalmology Eye and ENT Hospital of Fudan University, Shanghai, China.
Yi
Y
Lu
D000368:Aged; D000369:Aged, 80 and over; D000594:Amino Acid Oxidoreductases / Q000235:genetics / Q000378:metabolism*; D016022:Case-Control Studies; D002386:Cataract / Q000208:ethnology / Q000235:genetics / Q000378:metabolism*; D002681:China / Q000208:ethnology; D018899:CpG Islands / Q000235:genetics; D019175:DNA Methylation; D005006:Ethnicity; D017889:Exfoliation Syndrome / Q000208:ethnology / Q000235:genetics / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000378:metabolism
D012333:RNA, Messenger; D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human