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Anticipation,anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation

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International Journal of Ophthalmology(English edition) 2014年第1期7卷 44-50页

作者： Chun-Mei Li Yue-Hong Zhang Rong-Hua Ye Chang-Xian Yi Yi-Min Zhong Dan Cao Xing Liu State Key Laboratory of Ophthalmology Zhongshan Ophthalmic CenterSun Yat-sen University First Municipal People's Hospital of Guangzhou

AIM: To describe the anticipation and anti-glaucoma drugs response of a Chinese family with juvenile-onset open angle glaucoma(JOAG) caused by the Pro370Leu myocilin(MYOC) mutation. ·METHODS: Fifteen members of a three-generation Chinese family with JOAG were recruited to this study. They all underwent ophthalmic common examinations. Patients suspected to have JOAG got an assessment of visual field and optical coherence tomography. Intraocular pressures(IOPs) of four patients were measured at 8,10,12,14,17 o’clock respectively after using anti-glaucoma drugs. Mutation screening of all MYOC gene coding exons of the participants was performed by using direct sequencing of PCR products. ·RESULTS: Clinical examinations and pedigree analysis revealed eight family members were suffered from JOAG. Apparent genetics anticipation phenomenon was observed in this family. Their clinical features included elevated IOP of 35-55mmHg,loss of visual field,thinning of retinal nerve fiber layer,and glaucomatous optic disc damage. Noticeably,their intraocular pressure levels could be controlled within normal range at 8 and 10 o’clock by anti-glaucoma drugs,but their IOPs would elevate >21mmHg after 12 o’clock. Seven patients received trabeculectomy produced thin-walled,pale,and saccate filtering blebs maintaining lower intraocular pressure efficiently. Mutation screening indentified aheterozygous C→T missense mutation in the MYOC gene at position 1 109 in exon 3,corresponding to a substitution of a highly conserved proline to leucine at codon 370 in the olfactomedin domain of MYOC. ·CONCLUSION: The clinical characteristics of JOAG in this family were 1) genetics anticipation; 2) high IOP; 3) temporay response to anti-glaucoma drugs; 4) filtering surgery produced thin-walled and saccate filtering blebs,helping maintain lower IOP.

关键词： phenotype anticipation anti-glaucoma drugs myocilin

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Identification of Mutations in myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma

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Chinese Medical Journal 2016年第23期129卷 2810-2815页

作者： Rong-Feng Liao Zi-Lin Zhong Min-Jie Ye Li-Yun Han Dong-Qing Ye Jian-Jun Chen Department of Epidemiology and Biostatistics School of Public Health Anhui Medical University Hefei Anhui 230032 China Department of Ophthalmology The First Affiliated Hospital of Anhui Medical University Hefei Anhui 230032 China Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute Tongji University School of Medicine Shanghai 200092 China

Background： Glaucoma is a major cause of irreversible blindness worldwide. There is evidence showing that a subset of the disease is genetically determined. In this study, we screened for mutations in chromosome lq-linked open-angle glaucoma （GLC1A） in a Chinese family with primary open-angle glaucoma （POAG）. Methods： A total of 23 members from five generations of a family were enrolled and underwent thorough ophthalmologic examinations. In addition, 200 unrelated healthy Chinese controls were also recruited as normal control. GLC1A gene was amplified by polymerase chain reaction, and DNA sequencing was performed to screen for mutations. Results： Six members were diagnosed as POAG, with severe clinical manifestations, and history of high intraocular pressures. The mean age of disease onset was 26.3 years. However, the others were asymptomatic. In six affected and three asymptomatic members, gene sequencing revealed a mutation c.C1456T in exon 3 of myocilin gene （MYOC）. Furthermore, we also identified a novel mutation c.G322A in beta- 1,4-galactosyltransferase 3 （B4GALT3） gene in all six affected and three asymptomatic members, which was not reported previously in POAG patients. The two newly identified variants were absent in other family members as well as controls. Conclusion： The mutations c.1456C〈T （p.L486F） in MYOC and c.322G〈A （p.V1081） in B4GALT3 are likely responsible for the pathogenesis of POAG in this family.

关键词： Beta-1,4-galactosyltransferase 3 Genetic Testing Glaucoma myocilin Primary Open-angle Glaucoma

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Idebenone Maintains Survival of Mutant myocilin Cells by Inhibiting Apoptosis

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Chinese Medical Journal 2016年第16期129卷 2001-2004页

作者： Yue Guan Juan Li Tao Zhan Jian-Wen Wang Jian-Bo Yu Lan Yang Department of Ophthalmology Affiliated Hongqi Hospital Mudanjiang Medical University Mudanjiang Heilongjiang 157011 China Department of Endocrinology Affiliated Hongqi Hospital Mudanjiang Medical University Mudanjiang Heilongjiang 157011 China Department of Pathology Affiliated Hongqi Hospital Mudanjiang Medical University Mudanjiang Heilongjiang 157011 China

INTRODUCTION Glaucoma is a chronic progressive neurodegenerative disease and exhibits heterogeneity, polygenic inheritance, and incomplete penetrance. Primary open-angle glaucoma （POAG） is the most common form of glaucoma. Although the underlying etiology of POAG is unknown, there is evidence that genetic mutations are closely associated with this disease, Among myocilin （MYOC） mutations, Pro370Leu （P370L） is responsible for one of the most severe glaucoma phenotypes, However, the function of MYOC protein is still not well understood.

关键词： Apoptosis CHOP Glaucoma ldebenone myocilin

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myocilin Asn 450 Tyr突变促进人原代小梁网细胞中细胞外基质蛋白的表达及意义

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眼科 2019年第5期28卷 374-380页

作者：闫雪静武珅刘谦张敬学首都医科大学附属北京同仁医院北京同仁眼科中心北京市眼科研究所眼科学与视觉科学北京市重点实验室

目的研究小梁网糖皮质激素诱导反应蛋白基因myocilin N450Y突变(c.A1348T: p.N450Y, Myoc-N450Y)对人原代小梁网细胞(HTMC)细胞外基质(ECM)蛋白相关基因表达的影响及其参与青光眼发生发展的机制。设计实验研究。研究对象人原代小梁网细... 详细信息

目的研究小梁网糖皮质激素诱导反应蛋白基因myocilin N450Y突变(c.A1348T: p.N450Y, Myoc-N450Y)对人原代小梁网细胞(HTMC)细胞外基质(ECM)蛋白相关基因表达的影响及其参与青光眼发生发展的机制。设计实验研究。研究对象人原代小梁网细胞。方法实验分为三组,共9个样本,分别为空载体组、野生型Myoc (Myoc-WT)组及Myoc-N450Y组,用慢病毒感染的方法将Myoc-WT基因及Myoc-N450Y突变基因在HTMC中过表达,用蛋白质印迹法及荧光定量PCR方法检测Myoc-WT组和Myoc-N450Y组ECM蛋白Ⅰ型胶原蛋白(COL Ⅰ)、Ⅳ型胶原蛋白(COL Ⅳ)、纤连蛋白(FN)及基质金属蛋白酶(MMP)相关基因基质金属蛋白酶2(Mmp2)、基质金属蛋白酶9(Mmp9)的表达差异;构建野生型Myoc基因(Myoc-WT)及Asn 450 Tyr突变的Myoc基因(Myoc-N450Y)慢病毒载体,包装并确定慢病毒感染HTMC的条件;应用Myoc-WT慢病毒颗粒及Myoc-N450Y慢病毒颗粒感染HTMC,采用蛋白印迹法及荧光定量PCR方法检测Myoc基因的过表达情况及N450Y突变后对Col Ⅰ、Col Ⅳ、Fn、Mmp2、Mmp9表达的影响。主要指标 Col Ⅰ、Col Ⅳ、Fn、Mmp2、Mmp9基因的表达量。结果酶切鉴定结果及测序结果显示成功构建过表达Myoc-WT基因及Myoc-N450Y基因的慢病毒载体,并且慢病毒颗粒感染HTMC的感染复数(MOI)为5。蛋白质印迹及荧光定量PCR结果显示Myoc-WT及Myoc-N450Y组Myoc基因的蛋白水平及mRNA水平均高效过表达,空载体组、Myoc-WT组及Myoc-N450Y组Myoc基因mRNA相对表达量分别为1.00±0.11、28.88±1.28、22.06±0.47(F=1020.02,P<0.001)。荧光定量PCR结果显示,Myoc-N450Y组Col Ⅰ、Col Ⅳ及Fn基因 mRNA相对表达量分别为2.08±0.07、1.76±0.08、2.63±0.06,显著高于Myoc-WT组的0.93±0.04、0.95±0.09、0.89±0.06(P均<0.001)。且与Myoc-WT组相比,Myoc-N450Y组COL Ⅰ及FN蛋白表达水平显著上调。Myoc-N450Y组Mmp2、Mmp9 mRNA相对表达量分别为0.32±0.02和0.33±0.15,分别显著低于Myoc-WT组的1.01±0.03和0.95±0.03(P均<0.001)。结论成功制备可在HTMC过表达Myoc基因的慢病毒。过表达Myoc-N450Y基因对HTMC中ECM蛋白相关基因Col Ⅰ、Col Ⅳ及FN的表达具有促进作用,对MMP蛋白相关基因Mmp2、Mmp9的表达具有抑制作用。推测Myoc-N450Y可能通过调节ECM蛋白相关基因的表达参与青光眼的发生发展。

关键词： myocilin 青光眼人原代小梁网细胞细胞外基质

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TGF—β2及myocilin蛋白在原发性开角型青光眼的研究进展

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中国实用眼科杂志 2011年第8期29卷 747-750页

作者：陈婉珠吴瑜瑜泉州市福建医科大学附属第二医院眼科福建362000

转化生长因子-β2（transforming growth factor—β2，TGF—β2）是参与原发性开角型青光眼（primary open—angle glaucoma，POAG）发病机制的一个重要细胞因子，TGF—β2对小梁网的作用机制成为近年来研究的一个热点。Myoeilin是第... 详细信息

转化生长因子-β2（transforming growth factor—β2，TGF—β2）是参与原发性开角型青光眼（primary open—angle glaucoma，POAG）发病机制的一个重要细胞因子，TGF—β2对小梁网的作用机制成为近年来研究的一个热点。Myoeilin是第一个被证明与POAG相关的基因，在许多眼内、眼外组织中均有表达，特别是小梁网。在过去的十几年里，学者们对myocilin蛋白在正常眼或青光眼的功能方面做了很多的研究。此文将以TGF—β2对小梁网作用机制以及myocilin蛋白在POAG发病机制中的研究为综述。

关键词：转化生长因子-β2 myocilin 原发性开角型青光眼

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突变型myocilin真核表达载体的构建及体外表达

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眼科学报 2006年第2期22卷 125-128页

作者：王莉娜葛坚刘炳乾宋革侯飞眼科学教育部重点实验室中山大学中山眼科中心广州510060

目的:构建P370L突变型myocilin真核表达载体及体外转染体系,为myocilin功能研究提供实验基础。方法:应用定点诱变技术进行myocilin基因第1131位氨基酸残基位点的定点突变,利用阳离子脂质体介导体外转染技术瞬时转染人小梁细胞,RT-PCR和W... 详细信息

目的:构建P370L突变型myocilin真核表达载体及体外转染体系,为myocilin功能研究提供实验基础。方法:应用定点诱变技术进行myocilin基因第1131位氨基酸残基位点的定点突变,利用阳离子脂质体介导体外转染技术瞬时转染人小梁细胞,RT-PCR和WesternBlot检测myocilin表达.结果:经克隆、测序证实获得突变基因,突变载体转染后人小梁细胞myocilinmRNA和myocilin蛋白质表达显著增加。结论:P370L突变型myocilin真核表达载体成功构建,阳离子脂质体是人小梁细胞有效的体外转染体系。

关键词：定点突变脂质体转染 myocilin

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myocilin Thr377Met位点突变的系谱中青光眼的表现型

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美国医学会眼科杂志（中文版） 2004年第2期16卷 124-125页

作者： DavidA.Mackey DanielleL.Healey JohnH.Fingert MwhaelA.Coote TiffanyL.Wong,BAppSci ColleenH.Wilkinson,BAppSci PaulJ.McCartney JulianL.Rait A.PaulinedeGraaf EdwinM.Stone JamieE.Craig 齐越

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*** dissection of myocilin(MYOC)-induced glaucoma reveals that the modifier of glaucoma 1(MOG1)locus encodes a gene which prevents ocular hypertension

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Annals of Eye Science 2019年第1期 199-199页

作者： Vincent Raymond Pascal Belleau Rose Arseneault Jean-Louis Anctil Gilles Côté Marcel Amyot Patrick Laplante Laurent Lamalice Stéphane Dubois Fahed Elian Michael A.Walter Québec Glaucoma Network CHUL at CHU de Québec-UniversitéLaval Québec CityQCCanada Molecular Medicine UniversitéLavalQuébec CityQCCanada Cold Spring Harbor Laboratory NYUSA Department of Ophthalmology UniversitéLavalQuébec CityQCCanada Department of Ophthalmology Universitéde MontréalMontréalQCCanada Medical Genetics University of AlbertaEdmontonABCanada Ophthalmologists from Province of Québec QuébecQCCanada

Background:Pathogenic mechanisms leading to open-angle glaucoma(OAG)are genetically *** involve neuroinflammation,elevation of intra-ocular pressures(IOP)and optic nerve hypersensitivity to cellular *** mapped a locus at chromosome 20q13 that contains a modifier gene for glaucoma *** searching for its identity,we named this gene modifier of glaucoma 1(MOG1).The goal of this study is to characterize the mechanism by which MOG1 delays the age of onset of glaucoma when OAG is caused by mutations in the MYOC *** hypothesized that MOG1 mechanism may be linked to a specific endophenotype and thus dissected ocular phenotypes present in a large French-Canadian MYOC glaucoma ***:We studied 375 members of the CA pedigree in which autosomal dominant OAG is caused by the MYOCK423E *** this family,wild-type MOG1(normal form)delays the age-at-onset(AAO)of *** records of MYOCK423E carriers were reviewed to extract the values of four quantitative traits portraying four endophenotypes:(I)age of maximal intra-ocular pressure(IOP max),(II)IOP progression,(III)rate of optic nerve degeneration and,(IV)AAO defined as the age at which IOP≥22 mmHg or age at which optic disk degeneration was first *** were tested for their heritability.A three-stage algorithm was designed to detect double mutants who carry the MYOCK423E mutation and putative MOG1 *** traits values of double-mutants were then ***:We found 156 individuals who were heterozygotes(HTZ)for *** hundred and twenty of these were classified affected as they were OAG or had treatment for ocular hypertension(OHT)with IOP≥22 *** other 36 HTZ were *** two endophenotypes,AAO and IOP max,showed significant *** was the 1st symptom detected in 99%of the affecteds;it always preceded optic nerve *** of the affecteds ranged from 7 to 63 years old while rates of optic nerve degenera

关键词： Blindness glaucoma genetics modifier myocilin

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Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma

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International Journal of Ophthalmology(English edition) 2013年第3期6卷 264-268页

作者： Xiao-Min Zhou Yan Yin Ning Fan Hong-Bo Cheng Xiao-Hong Li Yun Wang Wen-Han Yu Su-Ping Cai Xu-Yang Liu Regenerative Medicine Research Center West China Hospital Sichuan University Ophthalmic Laboratories & Department of Ophthalmology the State Key Laboratory of Biotherapy West China Hospital Sichuan University Shenzhen Eye Hospital Jinan University

AIM: To detect the mutations in two candidate genes, myocilin (MYOC ) and cytochrome P450 1B1 (CYP1B1 ), in a Chinese family with primary open angle glaucoma (POAG). ·METHODS:Thefamilywascomposedofthreemembers, the parents and a daughter. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 genes were screened for sequence alterations by polymerase chain reaction (PCR) and direct DNA sequencing. ·RESULTS: The mother was the proband, she was diagnosed as POAG in both eyes. Her daughter was diagnosed as juvenile -onset POAG. The father was asymptomatic. One MYOC heterozygous mutation c.1150 G >A (D384N) in exon 3 was identified in the mother, another MYOC heterozygous variation c.1058 C>T (T353I) in exon 3 was identified in the father, and the daughter inherited both of the variations. Meanwhile, three single nucleotide polymorphisms (SNPs) in CYP1B1 gene were found in the family. ·CONCLUSION: The D384N mutation of MYOC has been reported as one of disease-causing mutations in POAG, whereas T353I variation of MYOC was thought as a high risk factor for POAG. The two variations of MYOC were first reported in one juvenile -onset POAG patient whopresented with more severe clinical manifestations, suggesting that T353I polymorphism of MYOC may be associated with the severity of POAG.

关键词： primary open angle glaucoma myocilin mutation D384N T353I

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