Primary open angle glaucoma (POAG) is a synthetically genetic heterogeneity in neurodegenerative disease, characterized by a gradual loss of vision. The optineurin (OPTN) gene has already been identified as one of the genes that cause POAG. OPTN mutation may result in structural and functional changes of its protein, optineurin. Optineurin has been shown to bind with a number of specific ligands. Optineurin mutation may break the interactions with proteins or make the function of binding complexes abnormal. The location, the structure of the OPTN gene, binding partners and molecular biology functions of optineurin, and the relationship between the mutation of the OPTN gene and POAG are introduced one by one in this review.
刘健楠,原慧萍. OPTN基因与POAG的分子生物学研究进展[J]. 中华眼视光学与视觉科学杂志, 2016, 18(1): 62-64.
Liu Jiannan,Yuan Huiping. The progression of the molecular biology of optineurin and primary open angle gloucoma. Chinese Journal of Optometry Ophthalmology and Visual science, 2016, 18(1): 62-64. DOI: DOI:10.3760/cma.j.issn.1674-845X.2016.01.015
Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020[J]. Br J Ophthalmol,2006,90:262-267. DOI:10.1136/bjo.2005.081224.
[2]
Ying H, Yue BY. Cellular and molecular biology of optineurin[J]. Int Rev Cell Mol Biol,2012,294:223-258. DOI:10.1016/B978-0-12-394305-7.00005-7.
[3]
Rezaie T, Child A, Hitchings R, et al. Adult onset primary open-angle glaucom a caused by mutations in optineurin[J].Science,2002,295:1077-1079. DOI:10.1126/science.1066901.
[4]
Kremer B, Goldberg P, Andrew SE, et al. A worldwide study of the Huntington′s disease mutation. The sensitivity and specificity of measuring CAG repeats[J]. N Engl J Med,1994,330:1401-1406. DOI:10.1056/NEJM199405193302001.
[5]
Schwab C, Yu S, McGeer EG, et al. Optineurin in Huntington′s disease intranuclear inclusions[J]. Neurosci Lett,2012,506:149-54. DOI:10.1016/j.neulet.2011.10.070.
[6]
Osawa T, Mizuno Y, Fujita Y, et al. Optineurin in neurodegenerative diseases[J]. Neuropathology,2011,31:569-574. DOI:10.1111/j.1440-1789.2011.01199.x.
[7]
Wild P, Farhan H, McEwan DG, et al. Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth[J]. Science,2011,333:228-233. DOI:10.1126/science.1205405.
[8]
Rezaie T, Sarfarazi M. Molecular cloning, genomic structure and protein characterization of mouse optineurin[J]. Genomics, 2005,85:131-138. DOI:10.1016/j.ygeno.2004.10.011.
[9]
Ying H, Shen X, Park B, et al. Posttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma gene[J]. PLoS One,2010,5:e9168. DOI:10.1371/journal.pone.0009168.
[10]
Park B, Ying H, Shen X, et al. Impairment of protein trafficking upon overexpression and mutation of optineurin[J]. PLoS One,2010,5:e11547. DOI:10.1371/journal.pone.0011547.
[11]
Park HY, Kim JH, Sun Kim H, et al. Stem cell-based delivery of brain-derived neurotrophic factor gene in the rat retina[J]. Brain Res,2012,1469:10-23. DOI:10.1016/j.brainres.2012.06.006.
[12]
Vaibhava V, Nagabhushana A, Chalasani ML, et al. Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17[J]. J Cell Sci,2012,125:5026-5039. DOI:10.1242/jcs.102327.
[13]
del Toro D, Alberch J, Lazaro-Dieguez F, et al. Mutant huntingtin impairs post-Golgi trafficking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus[J]. Mol Biol Cell,2009,20:1478-1492. DOI:10.1091/mbc.E08-07-0726.
[14]
Bond LM, Peden AA, Kendrick-Jones J, et al. Myosin VI and its binding partner optineurin are involved in secretory vesicle fusion at the plasma membrane[J]. Mol Biol Cell,2011,22:54-65. DOI:10.1091/mbc.E10-06-0553.
[15]
Bond LM, Peden AA, Kendrick-Jones J, et al, Myosin VI and its binding partner optineurin areinvolved in secretory vesicle fusion at the plasma membrane[J]. Mol Biol Cell,2011,22:54-65. DOI:10.1083/jcb.200501162.
[16]
Morton S, Hesson L, Peggie M, et al. Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma[J]. FEBS Lett,2008,582:997-1002. DOI:10.1016/j.febslet.2008.02.047.
[17]
Mankouri J, Fragkoudis R, Richards KH, et al. Optineurin negatively regulates the induction of IFNb in response to RNA virus infection[J]. PLoS Pathog,2010,6:e1000778. DOI:10.1371/journal.ppat.1000778.
[18]
Minegishi Y, Iejima D, Kobayashi H, et al. Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma[J]. Molecular Genetics,2013,22:3559-67. DOI:10.1093/hmg/ddt210.
[19]
Korac J, Schaeffer V, Kovacevic I, et al. Ubiquitin-independent function of optineurin in autophagicclearance of protein aggregates[J]. J Cell Sci,2013,126:580-592. DOI:10.1242/jcs.114926.
[20]
Quigley HA. Glaucoma[J]. Lancet,2011,377:1367-1377. DOI:10. 1016/S0140-6736(10)61423-7.
[21]
Allingham RR, Liu Y, Rhee DJ. The genetics of primary open-angle glaucoma: a review[J]. Exp Eye Res,2009,88:837-844. DOI:10.1016/j.exer.2008.11.003.
[22]
Kwon YH, Fingert JH, Kuehn MH, et al. Primary open-angle glaucoma[J]. N Engl J Med,2009,360:1113-1124. DOI:10.1056/NEJMra0804630.
[23]
Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma[J]. Science,1997, 275:668-670. DOI:10.1126/science.275.5300.668.
[24]
Rao KN, Nagireddy S, Chakrabarti S. Complex genetic mechanisms in glaucoma: an overview[J]. Indian J Ophthalmol,2011,59:S31-42. DOI:10.4103/0301-4738.73685.
[25]
Abu-Amero KK, Azad TA, Spaeth GL, et al. Absence of altered expression of optineurin in primary open angleglaucoma patients[J]. Mol Vis,2012,18:1421-1427.
[26]
Caixeta-Umbelino C, de Vasconcellos JP, Costa VP, et al. Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients[J]. Ophthalmic Genet,2009, 30:13-18. DOI:10.1109/9.847730.
[27]
Alward WL, Kwon YH, Kawase K, et al. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma[J]. Am J Ophthalmol,2003,136:904-910. DOI:10.1016/S0002-9394(03)00577-4.
[28]
Xiao Z, Meng Q, Tsai JC, et al. A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family[J]. Mol Vis,2009,15:1649-1654.