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MSC-mediated mitochondrial transfer restores mitochondrial DNA and function in neural progenitor cells of Leber’s hereditary optic neuropathy

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Science China Life Sciences 2024年

作者： Rui Wang Feixiang Bao Manjiao Lu Xiaoyun Jia Jiahui Xiao Yi Wu qingjiong zhang Xingguo Liu Joint School of Life Sciences Guangzhou Institutes of Biomedicine and HealthChinese Academy of SciencesGuangzhou Medical University Centre for Regenerative Medicine and Health Hong Kong Institute of Science&InnovationChinese Academy of Sciences Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine CUHK-GIBH Joint Research Laboratory on Stem Cells and Regenerative MedicineGIBH-HKU Guangdong-Hong Kong Stem Cell and Regenerative Medicine Research CentreInstitute for Stem Cell and RegenerationGuangzhou Institutes of Biomedicine and HealthChinese Academy of Sciences University of Chinese Academy of Sciences State Key Laboratory of Ophthalmology Zhongshan Ophthalmic CenterSun Yat-sen UniversityGuangdong Provincial Key Laboratory of Ophthalmology and Visual Science

Leber’s hereditary optic neuropathy (LHON) is a debilitating mitochondrial disease associated with mutations in mitochondrial DNA(mtDNA).Unfortunately,the available treatment options for LHON patients are limited due to challenges in mitochondrial *** our study,we reprogramming LHON urine cells into induced pluripotent stem cells (iPSCs) and differentiating them into neural progenitor cells (NPCs) and neurons for disease *** research revealed that LHON neurons exhibited significantly higher levels of mtDNA mutations and reduced mitochondrial function,confirming the disease ***,through co-culturing LHON iPSC-derived NPCs with mesenchymal stem cells (MSCs),we observed a remarkable rescue of mutant mtDNA and a significant improvement in mitochondrial metabolic function in LHON *** findings suggest that co-culturing with MSCs can enhance mitochondrial function in LHON NPCs,even after their differentiation into *** discovery holds promise as a potential therapeutic strategy for LHON patients.

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MAB21L2基因变异致小眼畸形2例及MAB21L1和MAB21L2的基因型-表型的系统回顾研究

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眼科学报 2024年第2期39卷 75-83页

作者：董怡君刘梦楚易珍张清炯王攀峰中山大学中山眼科中心眼病防治全国重点实验室广东省眼科视觉科学重点实验室广州510060

目的:总结MAB21L2基因的变异和临床特点,并与高度同源的MAB21L1基因进行比较。方法:对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析,回顾性分析既往文献报道的MAB21L2基因和高度同源基因MAB21L1变异的表型-基... 详细信息

目的:总结MAB21L2基因的变异和临床特点,并与高度同源的MAB21L1基因进行比较。方法:对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析,回顾性分析既往文献报道的MAB21L2基因和高度同源基因MAB21L1变异的表型-基因型的关系。结果:在2个小眼畸形家系中发现2个MAB21L2基因杂合变异:先证者1携带已知变异c.151C>G/p.(Arg51Gly),患者双眼小眼畸形伴虹膜脉络膜缺损,伴骨关节屈曲。母亲携带相同杂合变异但表型正常;先证者2携带未报道的变异c.1042G>T/p.(Glu348*),左眼小眼畸形,右眼正常且无全身异常。结合文献回顾发现,在显性遗传模式下,80%的MAB21L2杂合致病变异(20/25)和100%的MAB21L1杂合致病变异(25/25)发生在氨基酸49-52区域,导致小眼无眼或眼缺损异常(microphthalmia,anophthalmia or coloboma,MAC);携带该区域MAB21L2基因杂合突变的患者除MAC外,部分还伴骨骼关节发育异常(12/24,50%);杂合截短变异发生在MAB21L2基因可导致MAC(5/5,100%),而发生在MAB21L1则不致病。结论:在2个小眼畸形家系中发现了MAB21L2基因1个新致病变异和1个已知热点致病变异,通过文献综述比较和总结了MAB21L1和MAB21L2基因的突变频谱以及基因型-表型相互关系,为此类基因缺陷导致遗传病的诊断和鉴别诊断提供依据。

关键词：先天性小眼球 MAB21L2基因 MAB21L1基因突变热点

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Rare variants in novel and known genes associated with primary angle closure glaucoma based on whole exome sequencing of 549 probands

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Journal of Genetics and Genomics 2019年第7期46卷 353-357页

作者： Wenmin Sun Xueshan Xiao Shiqiang Li Jiamin Ouyang Xueqing Li Xiaoyun Jia Xing Liu qingjiong zhang State Key Laboratory of Ophthalmology Zhongshan OphthalmicCenter Sun Yat-sen University

Primary angle closure glaucoma(PACG)is one of the most common causes of irreversible blindness in Asia and about 80%of PACG are present in Asia(Song et al.,2017).Genetics plays an important role in the development of PACG(Gramer et al.,2014).Recently,eight common SNPs were found to be strongly associated with PACG(Vithana et al.,2012;Khor et al.,2016)and mutations in MYRF cause high hyperopia accompanied with PACG(Xiao et al.,2019).

关键词： irreversible blindness hyperopia

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Virus DNA Detection of Herpes Simplex Keratitis by PCR

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眼科学报 1993年第3期9卷 126-128页

作者： Kaili Wu qingjiong zhang Limei Zhuo Huosheng Chen Xiaohong zhang Jianhua Yang Youzhao Chen Zhongshan Ophthalmic Center Sun Yat-Sen University of Medical Sciences and National Ophthalmological LaboratoriesMinistry of Public HealthChina Guangzhou 510060China Department of Microbiology Sun Yat-Sen University of Medical Sciences Guangzhou 510089China Worker's Hospital of Guangzhou Petrochemical Plants Guangzhou 501726China

HSV-DNA of seven corneal lesions suspected with herpessimplex keratitis (HSK) and nine normal human donor corneas weredetected by PCR,Five out of seven diseased corneas showed positiveresults,and the other two diseased corneas and *** *** results suggest the PCR may be useful as a rapid andsensitive method for diagnosing *** Science 1993;9:126-128.

关键词： HSV PCR herpes simplex keratitis

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Genetic study on early onset high myopia: A story from WES on 298 probands

Genetic study on early onset high myopia: A story from WES o...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会...

作者： zhang qingjiong State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective High myopia are the most common causes of irreversible blindness due to its associat ed complications. Genetic factors have been shown to play an important role in the development of high myopia. Both Mendelian and complex traits have been suggested but many genetic studie s on high myopia did not differentiate Mendelian trait from complex trait. Based on our series stud ies on high myopia in the last two decades, most early onset high myopia should be considered t o be transmitted as Mendelian trait while most high myopia in teenage students associated with e xcessive near work are more likely to be complex trait. This study aims to elucidate the genetic ba sis of Mendelian high myopia based on analysis of early onset high myopia. Method Whole exome analysis was conducted on genomic DNA from 298 probands with early on set high myopia. Variations in genes known to associated with high myopia or with other forms of retinal diseases were analyzed. Comparative variation analysis was performed in order to search for novel mutations in genes not associated with any know diseases. Result Mutations in genes suggested to be associated with high myopia were only detected in a f ew families. Comprehensive analysis of genes know to be responsible for other retinal diseases i dentified potential pathogenic mutations in 34 of 234 genes in 71 of 298(23.4%) probands. Comp arative analysis between whole exome sequencing data from the 298 probands and those from s everal cohorts with other diseases not only revealed several novel candidate genes for Mendelianhigh myopia but also suggested a few unlikely causative genes reported to be responsible for hig h myopia and other retinal diseases. Conclusion Our findings provide evidence to support that early onset high myopia is likely trans mitted as Mendelian trait. About one fourth of such high myopia might be the most significant or e arliest sign of other hereditary ocular or systemic diseases. Functional studies or generati

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Clinical Analysis of Leber's Hereditary Optic Neuropathy Harboring mtDNA Mutation at nt11778

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Eye Science 2001年第1期17卷 31-34页

作者： Xinyu zhang , Qiang Yu , qingjiong zhang , Changxian YiZhongshan Ophthalmic Center , Sun yat-sen university of medical science , Guangzhou 510060, China Zhongshan Ophthalmic Center Sun Yat-sen University of Medical Science Guangzhou 510060 China

Purpose: To improve our diagnostic technique through the analysis of clinical features ofLeber's heredita'y optic neuropathy (LHON) harboring mtDNA point mutation at nt11778.Methods: Detection of nt11778 mutation was performed on 38 patients clinically diagnosed as LHON in our ophthalmic center from year 1998 to 2000. Circumstances of onset and family history were obtained and ophthalmoscopy, fundus fluorescein angiography, visual field and visual evoked potential were performed on all 38 patients. Result: 30 In 38 patients (78.95 % ) harbor nt11778 mutation, including 28 male (93.33%) and 2 female (6.67%). The ratio of affected male to female is 14: 1. Patients harboring nt11778 mutation display typical clinical nanifestations.Ccnclusion: Identification of one of the three LHON specifically associated ntDNA mutations is essential to confirm the diagnosis. Eye Science 2001: 17:31 ～ 34.

关键词：遗传性视神经疾病基因突变 nt11778 LHON 诊断

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细胞因子Ⅱ在遗传性视网膜色素变性的转基因小鼠视网膜的表达研究

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眼科研究 2001年第3期19卷 229-231页

作者：陈颖 zhang qingjiong 张清炯谭智群中山医科大学中山眼科中心广州 Lab.of Ocular Genetic and Molecular Biology Zhongshan Ophthalmic CenterSun Yat-san University of Medical SciencesGuangzhou 510060 美国南加州大学神经科

目的探讨细胞因子Ⅱ（ｃａｌｐａｉｎ Ⅱ）在视网膜色素变性过程中表达的变化，以此窥视遗传性视网膜色素变性的转基因小鼠（ｒｄｓ小鼠）发病的某些可能因素。方法以Ｃ３Ｂ小鼠为对照，选择不同生长时期的ｒｄｓ小鼠的视网膜组织... 详细信息

目的探讨细胞因子Ⅱ（ｃａｌｐａｉｎ Ⅱ）在视网膜色素变性过程中表达的变化，以此窥视遗传性视网膜色素变性的转基因小鼠（ｒｄｓ小鼠）发病的某些可能因素。方法以Ｃ３Ｂ小鼠为对照，选择不同生长时期的ｒｄｓ小鼠的视网膜组织，用免疫组化方法检测Ｃａｌｐａｉｎ Ⅱ在不同生长阶段的小鼠模型视网膜中的是否表达及表达情况。结果１周即可见Ｃａｌｐａｉｎ Ⅱ在ｒｄｓ小鼠视网膜神经节细胞层的表达，２周左右内核层也见表达，４周后外核层也开始出现由强至弱的ｃａｌｐａｉｎ Ⅱ强阳性表达，最终至全部视网膜剩余组织中均可见ｃａｌｐａｉｎ Ⅱ的表达。结论只有高钙才能激活ｃａｌｐａｉｎ Ⅱ的表达，研究中ｃａｌｐａｉｎ Ⅱ参与了ｒｄｓ小鼠视网膜细胞的变性死亡。因此，高钙是ｒｄｓ小鼠视网膜变性的一个可能因素。

关键词：视网膜色素变性细胞因子Ⅱ rds小鼠

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Color Vision Defects with Variation in the Exon 5 of Red and Green Pigment Genes

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眼科学报 1998年第3期14卷 130-133页

作者： Huangxuan Shen, qingjiong zhang, Xueshan Xiao, Shiqiang Li, Li Guo, Futian JiangZhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences , Guangzhou 510060, China Zhongshan Ophthalmic Center Sun Yat-sen University of Medical Sciences Guangzhou 510060 China

Purpose : To investigate correlation of variation in the exon 5 of red and green pigment genes with color vision *** : Exon 5 of the red and green pigment genes in 11 protans, 19 deutans and 38 normal controls were analyzed by heteroduplux-SSCP *** : In all 11 protans and 8 of the 19 deutans, defects of the red or green pigment gene could be identified. The C polymorphism (A/C at codon 283) in green pigment gene was present in 8 of 44 trichromats and 5 of 24 dichromats. Specific electrophoretic bands were found in 2 normal controls and a ***: Variation in the exon 5 of the red and green pigment genes is the most common cause for color vision defects. Heteroduplex-SSCP analysis is a suitable way in screening specific variation in visual pigment genes. Eye Science 1998; 14 : 130 - 133.

关键词：色觉缺陷视色素基因 SSCP 遗传多态性红色素绿色素

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A novel locus for autosomal dominant high hyperopia mapped to chromosomal 11

A novel locus for autosomal dominant high hyperopia mapped t...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会...

作者： Xiao Xueshan Li Shiqiang Jia Xiaoyun Guo Xiangming zhang qingjiong State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective High hyperopia is a common and severe refractive error associated with blurred vision, asthenopia, amblyopia and strabismus. This study is to map the genetic locus of autosomal domi nant high hyperopia in a large Chinese family Method An autosomal dominant high hyperopia was identified in five generation family with 16 aff ected patients. A genome wide linkage scan on 20 family members(14 affected) was performed by genotyping microsatellite markers at about 10 c M intervals, together with two-point linkage ana lysis. In the meantime, analysis of shared novel alleles on data from whole exome sequencing wa s used to confirm the linkage region and to search for potential candidate variants. Result High hyperopia in this family shows linkage to markers in 27.1 c M region on chromosome 11. All ten markers in the linkage interval gave positive lod scores, with maximum two-point lod scores of 4.68 at theta=0. Analysis of shared alleles identified only one region with multiple novel va riants, which also located in the linkage interval. Conclusion A novel locus for autosomal dominant high hyperopia is mapped to chromosomal 11. Analysis of additional families and functional study on candidate variants may lead to identificatio n of the gene responsible for autosomal dominant high hyperopia.

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Mutations in lens-specific genes: cataract and beyond

Mutations in lens-specific genes: cataract and beyond

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会...

作者： zhang qingjiong Li Shiqiang Xiao Xueshan Jia Xiaoyun Wang Panfeng Guo Xiangming State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective Mutations in lens-specific genes have been frequently reported to play major roles in th e development of congenital cataracts. So far, a number of mutations in these genes have been r eported, including those identified in our patients with cataract. Based on analysis of data from wh ole exome sequencing on 1629 probands with different forms of hereditary eye diseases, a numb ers of novel variants predicted to be damaging were identified. This study aims to clarify the relati onships between different variations in these genes and varied phenotypes in different patients. Method Variations in 32 genes known to cause isolated or primary congenital cataracts were sele cted from the dataset of whole exome sequencing for 1629 probands. After exclusion of polymor phisms and benign variants, rare variants predicted to be damaging were thoroughly analyzed ba sed on existing databases and associated phenotypes. Predicted damaging but unlikely causativ e variants will be summarized. Result Some mutations reported to cause cataracts were detected in patients without cataracts. Some rare damaging variants in these gene may not be causative. Rare variants in some genes are more likely to be pathogenic while such variants in other genes are ambiguous. Classification of these genes and its associated variants are suggested for variants-based genetic counseling. Conclusion Visible clear lens provides valuable model in evaluating effect of a variant on lens str ucture(transparency). Clarifying gene-or variant-specific genotype-phenotype is the prerequisite in making precision genetic counseling. International collaborative studies on such kind of data, pr obably through AEGC or other societies, may be of great help in differentiating rare variants from pathogenic mutations in lens-specific genes responsible for congenital cataracts.

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