Epigenetics, as a branch of genetics, has been gaining more attention recently. Epigenetic mechanisms influence gene expression and function without modification of the base sequence of DNA. The mechanisms include DNA methylation, post-translational histone modifications, and deployment of non-coding RNA, with a particular focus on DNA methylation. Much research on the pathogenesis of genetic eye disease has emerged and more and more pathogenic genes are being screened out. Researchers have also found that DNA methylation plays a complex and important role. In this review, we summarize the role of DNA methylation in common inherited eye diseases.
付单,于志强. DNA甲基化在遗传性眼病发病机制中的作用. 中华眼视光学与视觉科学杂志, 2016, 18(11):696-704. DOI:DOI:10.3760/cma.j.issn.1674-845X.2016.11.013.
Fu Dan,Yu Zhiqiang. The role of DNA methylation in the pathogenesis of inherited eye disease. Chinese Journal of Optometry Ophthalmology and Visual science, 2016, 18(11):696-704.
Mazzio EA, Soliman KF. Basic concepts of epigenetics: impact of environmental signals on gene expression[J]. Epigenetics,2012, 7(2):119-130. DOI:10.4161/epi.7.2.18764.
[2]
He S, Li X, Chan N, et al. Review: Epigenetic mechanisms in ocular disease[J]. Mol Vis,2013,19:665-674.
[3]
Munzel M, Globisch D, Carell T. 5-Hydroxymethylcytosine, the sixth base of the genome[J]. Angew Chem Int Ed Engl,2011,50(29):6460-6468. DOI:10.1002/anie.201101547.
[4]
Ito S, Shen L, Dai Q, et al. Tet proteins can convert 5-methylcytosine to 5-formylcytosine and 5-carboxylcytosine[J]. Science,2011,333(6047):1300-1303. DOI:10.1126/science.1210597.
Rai K, Chidester S, Zavala CV, et al. Dnmt2 functions in the cytoplasm to promote liver, brain, and retina development in zebrafish[J]. Genes Dev,2007,21(3):261-266. DOI:10.1101/gad.1472907.
[7]
Robertson KD, Jones PA. DNA methylation: past, present and future directions[J]. Carcinogenesis,2000,21(3):461-467.
[8]
Liu X, Tang H, Wang Z, et al. F10 gene hypomethylation, a putative biomarker for glioma prognosis[J]. J Neurooncol,2012, 107(3):479-485. DOI:10.1007/s11060-011-0775-2.
[9]
Sato T, Soejima K, Arai E, et al. Prognostic implication of PTPRH hypomethylation in non-small cell lung cancer[J]. Oncol Rep,2015,34(3):1137-1145. DOI:10.3892/or.2015.4082.
[10]
Kumar M, Agarwal T, Kaur P, et al. Molecular and structural analysis of genetic variations in congenital cataract[J]. Mol Vis, 2013,19:2436-2450.
[11]
Su S, Liu P, Zhang H, et al. Proteomic analysis of human age-related nuclear cataracts and normal lens nuclei[J]. Invest Ophthalmol Vis Sci,2011,52(7):4182-4191. DOI:10.1167/iovs.10-7094.
[12]
Zhou P, Luo Y, Liu X, et al. Down-regulation and CpG island hypermethylation of CRYAA in age-related nuclear cataract[J]. FASEB J,2012,26(12):4897-4902. DOI:10.1096/fj.12-213702.
[13]
Makley LN, McMenimen KA, DeVree BT, et al. Pharmacological chaperone for ?琢-crystallin partially restores transparency in cataract models[J]. Science,2015,350(6261):674-677. DOI:10.1126/science.aac9145.
[14]
Zhou P, Lu Y, Sun XH. Effects of a novel DNA methyltransferase inhibitor Zebularine on human lens epithelial cells[J]. Mol Vis, 2012,18:22-28
[15]
Yu S, Khor TO, Cheung KL, et al. Nrf2 expression is regulated by epigenetic mechanisms in prostate cancer of TRAMP mice[J]. PLoS One,2010,5(1):e8579. DOI:10.1371/journal.pone.0008579.
[16]
Gao Y, Yan Y, Huang T. Human agerelated cataracts: epigenetic suppression of the nuclear factor erythroid 2 related factor 2 mediated antioxidant system[J]. Mol Med Rep,2015,11(2):1442-1447. DOI:10.3892/mmr.2014.2849.
[17]
Tham YC, Li X, Wong TY, et al. Global prevalence of glaucoma and projections of glaucoma burden through 2040: asystematic review and meta-analysis[J]. Ophthalmology,2014,121(11):2081-2090. DOI:10.1016/j.ophtha.2014.05.013.
[18]
Sakurada Y, Mabuchi F. Advances in glaucoma genetics[J]. Prog Brain Res,2015,220:107-126. DOI:10.1016/bs.pbr.2015.04.006.
[19]
Amerasinghe N, Zhang J, Thalamuthu A, et al. The Heritability and Sibling Risk of Angle Closure in Asians[J]. Ophthalmology, 2011,118(3):480-485. DOI:10.1016/j.ophtha.2010.06.043.
[20]
Weinreb RN, Kaufman PL. The glaucoma research community and FDA look to the future: a report from the NEI/FDA CDER Glaucoma Clinical Trial Design and Endpoints Symposium[J]. Invest Ophthalmol Vis Sci,2009,50(4):1497-1505. DOI:10.1167/iovs.08-2843.
[21]
Wallace DM, Pokrovskaya O, O′Brien C J. The Function of Matricellular Proteins in the Lamina Cribrosa and Trabecular Meshwork in Glaucoma[J]. J Ocul Pharmacol Ther, 2015,31(7):386-395. DOI:10.1089/jop.2014.0163.
[22]
Ciotu I M, Stoian I, Gaman L, et al. Biochemical changes and treatment in glaucoma[J]. J Med Life,2015,8(1):28-31.
[23]
Prendes MA, Harris A, Wirostko BM, et al. The role of transforming growth factor ?茁 in glaucoma and the therapeutic implications[J]. Br J Ophthalmol,2013,97(6):680-686. DOI:10.1136/bjophthalmol-2011-301132.
[24]
Wordinger RJ, Sharma T, Clark AF. The role of TGF-?茁2 and bone morphogenetic proteins in the trabecular meshwork and glaucoma[J]. J Ocul Pharmacol Ther,2014,30(2-3):154-162. DOI:10.1089/jop.2013.0220.
[25]
Matsumura N, Huang Z, Mori S, et al. Epigenetic suppression of the TGF-beta pathway revealed by transcriptome profiling in ovarian cancer[J]. Genome Res,2011,21(1):74-82. DOI:10.1101/gr.108803.110.
[26]
Liu N, He S, Ma L, et al. Blocking the class I histone deacetylase ameliorates renal fibrosis and inhibits renal fibroblast activation via modulating TGF-beta and EGFR signaling[J]. PLoS One,2013,8(1):e54001. DOI:10.1371/journal.pone.0054001.
[27]
McDonnell F, O′Brien C, Wallace D. The role of epigenetics in the fibrotic processes associated with glaucoma[J]. J Ophthalmol,2014,2014:750459. DOI:10.1155/2014/750459.
[28]
Livide G, Epistolato MC, Amenduni M, et al. Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA[J]. Pathol Oncol Res,2012,18(3):703-712. DOI:10.1007/s12253-012-9498-8.
[29]
Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma[J]. Genes Chromosomes Cancer,2007,46(7):617-634. DOI:10.1002/gcc.20457.
[30]
Greger V, Debus N, Lohmann D, et al. Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma[J]. Hum Genet,1994,94(5):491-496. DOI:10.1007/BF00211013.
[31]
Harada K, Toyooka S, Maitra A, et al. Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines[J]. Oncogene, 2002,21(27):4345-4349. DOI:10.1038/sj.onc.1205446.
[32]
Choy KW, Pang CP, To KF, et al. Impaired expression and promotor hypermethylation of O6-methylguanine-DNA methyltransferase in retinoblastoma tissues[J]. Invest Ophthalmol Vis Sci,2002,43(5):1344-1349.
[33]
Beta M, Chitipothu S, Khetan V, et al. Hypermethylation of adenomatosis polyposis coli-2 and its tumor suppressor role in retinoblastoma[J]. Curr Eye Res,2015,40(7):719-728. DOI:10.3109/02713683.2014.954673.
[34]
Wong WL, Su X, Li X, et al. Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis[J]. Lancet Glob Health,2014,2(2):e106-e116. DOI:10.1016/S2214-109X(13)70145-1.
[35]
Hunter A, Spechler PA, Cwanger A, et al. DNA methylation is associated with altered gene expression in AMD[J]. Invest Ophthalmol Vis Sci,2012,53(4):2089-2105. DOI:10.1167/iovs.11-8449.
[36]
Cascella R, Ragazzo M, Strafella C, et al. Age-related macular degeneration: insights into inflammatory genes[J]. J Ophthalmol, 2014,2014:582842. DOI:10.1155/2014/582842.
[37]
Wei L, Liu B, Tuo J, et al. Hypomethylation of the IL17RC promoter associates with age-related macular degeneration[J]. Cell Rep,2012,2(5):1151-1158. DOI:10.1016/j.celrep.2012.10.013.
[38]
Oliver VF, Franchina M, Jaffe AE, et al. Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration[J]. Cell Rep,2013, 5(6):1527-1535. DOI:10.1016/j.celrep.2013.11.042.
[39]
Wu LJ, You QS, Duan JL, et al. Prevalence and associated factors of myopia in high-school students in Beijing[J]. PLoS One,2015,10(3):e120764. DOI:10.1371/journal.pone.0120764.
[40]
Morgan IG, Ohno-Matsui K, Saw SM. Myopia[J]. Lancet,2012, 379(9827):1739-1748. DOI:10.1016/S0140-6736(12)60272-4.
[41]
Rong SS, Chen LJ, Pang CP. Myopia Genetics-The Asia-Pacific Perspective[J]. Asia Pac J Ophthalmol (Phila),2016,5(4):236-244.DOI:10.1097/APO.0000000000000224.
[42]
Zhou X, Ji F, An J, et al. Experimental murine myopia induces collagen type Ialpha1 (COL1A1) DNA methylation and altered COL1A1 messenger RNA expression in sclera[J]. Mol Vis,2012, 18:1312-1324.
[43]
Zhu XJ, Zhou P, Zhang KK, et al. Epigenetic regulation of alphaA-crystallin in high myopia-induced dark nuclear cataract[J]. PLoS One,2013,8(12):e81900. DOI:10.1371/journal.pone.0081900.
[44]
Calipel A, Abonnet V, Nicole O, et al. Status of RASSF1A in uveal melanocytes and melanoma cells[J]. Mol Cancer Res,2011, 9(9):1187-1198. DOI:10.1158/1541-7786.MCR-10-0437.
[45]
Maat W, van der Velden PA, Out-Luiting C, et al. Epigenetic inactivation of RASSF1a in uveal melanoma[J]. Invest Ophthalmol Vis Sci,2007,48(2):486-490. DOI:10.1167/iovs.06-0781.
[46]
Dratviman-Storobinsky O, Cohen Y, Frenkel S, et al. The role of RASSF1A in uveal melanoma[J]. Invest Ophthalmol Vis Sci, 2012,53(6):2611-2619. DOI:10.1167/iovs.11-7730.
[47]
Shivakumar L, Minna J, Sakamaki T, et al. The RASSF1A tumor suppressor blocks cell cycle progression and inhibits cyclin D1 accumulation[J]. Mol Cell Biol,2002,22(12):4309-4318.
[48]
Hoon DS, Spugnardi M, Kuo C, et al. Profiling epigenetic inactivation of tumor suppressor genes in tumors and plasmafrom cutaneous melanoma patients[J]. Oncogene,2004,23(22):4014-4022. DOI:10.1038/sj.onc.1207505.
[49]
Ting DS, Cheung GC, Wong TY. Diabetic retinopathy: global prevalence, major risk factors, screening practicesand public health challenges: a review[J]. Clin Exp Ophthalmol,2016,44(4):260-277. DOI:10.1111/ceo.12696.
[50]
Chen Z, Miao F, Paterson AD, et al. Epigenomic profiling reveals an association between persistence of DNA methylation and metabolic memory in the DCCT/EDIC type 1 diabetes cohort[J]. Proc Natl Acad Sci USA,2016,113(21):E3002-E3011. DOI:10.1073/pnas.1603712113.
[51]
Agardh E, Lundstig A, Perfilyev A, et al. Genome-wide analysis of DNA methylation in subjects with type 1 diabetes identifies epigenetic modifications associated with proliferative diabetic retinopathy[J]. BMC Med,2015:13,182. DOI:10.1186/s12916-015-0421-5.
[52]
Raffoux E, Cras A, Recher C, et al. Phase 2 clinical trial of 5-azacitidine, valproic acid, and all-trans retinoic acid in patients with high-risk acute myeloid leukemia or myelodysplastic syndrome[J]. Oncotarget,2010,1(1):34-42.DOI:10.18632/oncotarget.100518.
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