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The clinical and genetic characteristics in children with mitochondrial disease in China

Science China(Life Sciences) 2017年第7期60卷 746-757页

作者： fang fang Zhimei Liu hezhi fang Jian Wu Danmin Shen Suzhen Sun Changhong Ding Tongli Han Yun Wu Junlan Lv Lei Yang Shufang Li Jianxin Lv Ying Shen Department of Neurology Beijing Children 's Hospital Capital Medical University National Center for Children's Health Beijing 100045 China Inspection Medical School Wenzhou Medical College Wenzhou 325035 China Translational Medical Center The General Hospital of the Chinese People's Liberation Army Beijing 100853 China Department of Neurology Children's Hospital of Hebei Province Hebei Medical University Shijiazhuang 050030 China

Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing(NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015. In our study, 40 cases of gene confirmed mitochondrial disease including eight kinds of mitochondrial disease, among which Leigh syndrome was identified to be the most common type, followed by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS). The age-of-onset varies among mitochondrial disease, but early onset was common. All of 40 cases were gene confirmed, among which 25 cases(62.5%)with mitochondrial DNA(mtDNA) mutation, and 15 cases(37.5%) with nuclear DNA(nDNA) mutation. M.3243A>G(n=7)accounts for a large proportion of mtDNA mutation. The nDNA mutations include SURF1(n=7),PDHA1(n=2),and NDUFV1,NDUFAF6, SUCLA2, SUCLG1, RRM2 B, and C12orf65, respectively.

关键词： mitochondrial disease targeted next generation sequencing clinical features gene

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线粒体病分子诊断技术进展

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国际检验医学杂志 2024年第17期45卷 2049-2057页

作者：沈丽君王娅周怀彬陈连婷蔡雯方合志浙江省医学遗传学重点实验室/温州医科大学检验医学院(生命科学学院) 浙江温州325035

线粒体病是一类重要的遗传代谢病,其发病可覆盖全年龄段,尤其是儿童线粒体病致死致残率极高。随着生物化学及分子与细胞生物学技术的发展,线粒体病的实验室诊断经历了快速的发展,相关诊断路径和策略也从高度有创的实验室检测逐渐过渡到... 详细信息

线粒体病是一类重要的遗传代谢病,其发病可覆盖全年龄段,尤其是儿童线粒体病致死致残率极高。随着生物化学及分子与细胞生物学技术的发展,线粒体病的实验室诊断经历了快速的发展,相关诊断路径和策略也从高度有创的实验室检测逐渐过渡到以无创筛查为主。但是,线粒体病实验室诊断仍然存在单一检测策略的阳性诊断率不足、实验室漏检与待排查比例居高不下的困扰,因此新的线粒体病检测技术被开发并用于协助疾病的诊断。该文从基因、酶生物化学与代谢生物学3个层面对当前线粒体病实验室诊断的进展进行综述,旨在为特定场景下线粒体病实验室诊断策略选择提供参考,也为后续检测技术的研发提供一些建议。

关键词：线粒体病诊断标志物氧化磷酸化

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HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration

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Journal of Genetics and Genomics 2021年第8期48卷 727-736页

作者： Yu Sun Xiujuan Wei fang fang Yiping Shen Haiyan Wei Jiuwei Li Xianglai Ye Yongkun Zhan Xiantao Ye Xiaomin Liu Wei Yang Yuhua Li Xiangju Geng Xuelin Huang Yiyan Ruan Zailong Qin Shang Yi Jianxin Lyu hezhi fang Yongguo Yu Department of Pediatric Endocrinology and Genetics Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghai Institute for Pediatric ResearchShanghai 200092China Key Laboratory of Laboratory Medicine Ministry of EducationZhejiang Provincial Key Laboratory of Medical GeneticsSchool of Laboratory Medicine and Life SciencesWenzhou Medical UniversityWenzhou 325035China Department of Neurology Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region Guangxi Birth Defects Prevention and Control InstituteNanning 530000China Shanghai Children's Medical Center Shanghai Jiao Tong University School of MedicineShanghai 200127China Boston Children's Hospital Harvard Medical SchoolBostonMA 02115USA Department of Endocrinologic and Inherited Metabolic Henan Childen's HospitalZhengzhou Children's HospitalZhengzhou 450078China Department of Radiology Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghai 200092China Department of Rehabilitation Henan Children's HospitalZhengzhou Children's HospitalZhengzhou 450018China Zhejiang Provincial People's Hospital Affiliated People's Hospital of Hangzhou Medical CollegeHangzhou 310014China Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition Shanghai 200092China

Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphenylpyruvate dioxygenase-like),which encodes an intermembrane mitochondrial protein,has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement ***,we report six Chinese patients with bi-allelic HPDL pathogenic variants from four unrelated families showing neuropathic symptoms of variable severity,including developmental delay/intellectual disability,spasm,and *** different pathogenic variants are identified,of which five are *** fibroblasts and immortalized lymphocytes derived from patients show impaired mitochondrial respiratory function,which is also observed in HPDL-knockdown(KD)He La *** these He La cells,overexpression of a wild-type HPDL gene can rescue the respiratory phenotype of oxygen consumption *** addition,a decreased activity of the oxidative phosphorylation(OXPHOS)complex II is observed in patient-derived lymphocytes and HPDL-KD He La cells,further supporting an essential role of HPDL in the mitochondrial respiratory ***,our data expand the clinical and mutational spectra of this mitochondrial neuropathy and further delineate the possible disease mechanism involving the impairment of the OXPHOS complex II activity due to the bi-allelic inactivations of HPDL.

关键词： HPDL gene Mitochondrial disease Respiration impairment OXPHOS Respiration chain complexⅡ

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SURF1 mutations in Chinese patients with Leigh syndrome:novel mutations,mutation spectrum,and the functional consequences

SURF1 mutations in Chinese patients with Leigh syndrome:nove...

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2018年浙江省医学遗传学学术年会

作者： hezhi fang Yuanyuan Li Shumeng Wen Yanling Yang Jianxin Lyu Key Laboratory of Laboratory Medicine Ministry of EducationZhejiang Provincial Key Laboratory of Medical GeneticsCollege of Laboratory Medicine and Life sciencesWenzhou Medical University Department of Pediatrics Peking University First Hospital Hangzhou Medical College

SURF1 is an assembly factor of mitochondrial complex Ⅳ,and its mutations are the primary cause of Leigh syndrome in *** date,over 100 SURF1 mutations have been reported worldwide,but the spectrum of the SURF1 mutations in China remains ***,using next-generation sequencing targeting mitochondrial proteincoding sequences,we sequenced 178 patients suspected to have mitochondrial *** SURF1 mutations were identified in 12 Leigh syndrome patients,of which three,c.46566 delAA,c.532 A>T,and c.82627 ins AGCATCTGCAGTACATCG,were newly *** found an increased percentage of frameshift mutations and a decrease in missense mutations in Chinese population compared with those in other *** using complementation assay we observed that SURF1 genes with missense mutations imply a better complex Ⅳ assembly than those with null mutations while 3 out of 8 missense mutations retained part levels of complex Ⅳ assembly but none of 4 null mutations,which indicates that SURF1 mutations may be associated with worse prognosis in Chinese patients than in other ***,studies with larger size samples are needed to verify this Conclusion:.Additionally,we demonstrated that the frameshift mutations resulting in protein truncation closer to the C-terminus are not associated with better disease ***,we found that determining the levels of complex Ⅳ assembly using cell models or lymphocyte analysis rather than invasive muscle and skin fibroblast biopsy,may help predict disease progression in Leigh syndrome patients.

关键词： SURF1 mutation spectrum frameshift Leigh syndrome Chinese population

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Nuclear Genetic Background Determines Respiratory Chain Supercomplex Organization

Nuclear Genetic Background Determines Respiratory Chain Supe...

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2015年浙江省医学遗传学学术年会暨高通量基因测序产前筛查与诊断技术研讨会

作者： Dayan Sun Bin Li Hao Shi Fengjie Li Xiyuan Li Lijun Shen Bo Shen Yanling Yang hezhi fang Jianxin Lu Key Laboratory of Laboratory Medicine Ministry of EducationZhejiang Provincial Key Laboratory of Medical GeneticsCollege of Laboratory Medicine and Life sciencesWenzhou Medical University Department of Pediatrics Peking University First Hospital Department of Laboratory Medicine Affiliated Taizhou Hospital of Wenzhou Medical University

Respiratory chain complexes are organized into large supercomplexes,among which supercomplexⅠ+Ⅲ+Ⅳ,is the only supermolecule that can directly transfer electrons from NADH to *** supercomplexes have been implicated in human diseases such as cancer and aging because of their role in mitochondrial physiology and ***,it was reported that the formation of supercomplexⅠ+Ⅲ+Ⅳ

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Erratum to:The clinical and genetic characteristics in children with mitochondrial disease in China

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Science China(Life Sciences) 2018年第12期61卷 1606-1606页

作者： fang fang Zhimei Liu hezhi fang Jian Wu Danmin Shen Suzhen Sun Changhong Dingl Tongli Han Yun Wu Junlan Lv Lei Yang Shufang Li Jianxin Lv Ying Shen Department of Neurology Beijing Children's Hospital Capital Medical UniversityNational Center for Children's HealthBeijing 100045 China Inspection Medical School Wenzhou Medical CollegeWenzhou 325035China Translational Medical Center The General Hospital of the Chinese People's Liberation ArmyBeijhlg 100853China Department of Neurology Children's Hospital of Hebei ProvinceHebei Medical UniversityShijiazhuang 050030China

*** post code for the fourth address in the affiliation should be *** items are missing in the first row of Table *** correct form of the first row is as follows:*** second "55%"in the fourth paragraph of DISCUSSION s... 详细信息

关键词： MELAS Erratum to

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线粒体呼吸链复合体Ⅰ

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中国细胞生物学学报 2014年第8期36卷 1153-1161页

作者：李凤杰沈丽君方合志白益东温州医科大学检验医学院生命科学学院温州325035 德州大学医学中心

线粒体呼吸链复合体Ⅰ(简称复合体Ⅰ)是呼吸链电子传递的起始复合体,作为电子传递过程的限速酶,复合体Ⅰ的分子量远大于其余的四个呼吸链复合体。复合体Ⅰ相关的疾病发生除了与40余个复合体Ⅰ组成亚基的突变相关外,还同参与其组装的多... 详细信息

线粒体呼吸链复合体Ⅰ(简称复合体Ⅰ)是呼吸链电子传递的起始复合体,作为电子传递过程的限速酶,复合体Ⅰ的分子量远大于其余的四个呼吸链复合体。复合体Ⅰ相关的疾病发生除了与40余个复合体Ⅰ组成亚基的突变相关外,还同参与其组装的多个组装因子存在密切联系。该文对复合体I的结构以及参与调控复合体Ⅰ组装的各类组装因子进行了综述,旨在为全面了解复合体Ⅰ相关疾病的发生提供具体参考。

关键词：线粒体呼吸链复合体Ⅰ 组装因子

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蛋白质量控制研究

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中国细胞生物学学报 2015年第2期37卷 241-248页

作者：石号孙大燕李宾方合志吕建新温州医科大学检验医学院生命科学学院浙江省医学遗传学重点实验室温州325035

细胞内蛋白的质量控制包括新翻译蛋白的正确折叠组装以及错误折叠蛋白的降解。生物体内精确的蛋白质量控制机制维持着细胞的正常生理功能,蛋白质量控制异常通常与肿瘤、衰老等多种退行性疾病的发生有关。该文对胞质、内质网以及线粒体... 详细信息

细胞内蛋白的质量控制包括新翻译蛋白的正确折叠组装以及错误折叠蛋白的降解。生物体内精确的蛋白质量控制机制维持着细胞的正常生理功能,蛋白质量控制异常通常与肿瘤、衰老等多种退行性疾病的发生有关。该文对胞质、内质网以及线粒体内的蛋白质量控制机制进行了综述,旨在为全面了解蛋白质量控制异常相关疾病的发生提供参考。

关键词：蛋白质量控制分子伴侣内质网线粒体

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RAP1在肝细胞癌中的表达及其功能机制研究

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中国细胞生物学学报 2021年第10期43卷 1933-1943页

作者：杨月张琨高静沈丽君方合志董杰影温州医科大学检验医学院、生命科学学院检验医学教育部重点实验室温州325035 西安大兴医院检验科西安710016 北京市海淀区卫生学校综合办公室北京100192

RAS相关蛋白1(RAS-associated protein 1,RAP1)是属于RAS家族的一种小分子G蛋白,被报道与多种癌症有关。然而,RAP1在肝细胞癌(hepatocellular carcinoma,HCC)中的作用及机制尚不清楚。TCGA和GTEx联合分析显示,HCC组织中RAP1A和RAP1B的mRNA水平显著高于正常肝组织。免疫组织化学技术和蛋白质免疫印迹(Western blot,WB)分析均证实,HCC患者癌组织中的RAP1蛋白水平高于其癌旁正常组织。体外研究表明,与对照细胞相比,下调RAP1表达可以减弱HCC细胞的增殖、迁移和侵袭能力。从机制上说,下调RAP1表达可以促进线粒体氧化磷酸化,抑制糖酵解,并激活p38 MAPK通路,而抑制p38 MAPK通路可以抑制HCC线粒体功能,提示RAP1可以通过抑制p38 MAPK通路促使细胞代谢从氧化磷酸化转为糖酵解,从而促进HCC进程。尽管还需要进一步的研究来阐明RAP1是如何调节p38 MAPK通路及其下游能量代谢重编程的,但该研究结果为HCC的治疗提供了新的潜在靶点。

关键词： RAS相关蛋白1 肝细胞癌线粒体功能 p38 MAPK

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针对线粒体复合体Ⅰ基因突变的Leigh综合征细胞模型的基因治疗研究

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中国细胞生物学学报 2023年第5期45卷 753-761页

作者：沈露茜黄钰婷方合志申钰琪姜庆友熊舒婷李红智首都医科大学附属北京友谊医院神经内科北京100050 温州医科大学附属诸暨医院医学检验科绍兴311800 温州医科大学检验医学与生命科学学院教育部检验医学重点实验室温州325035

该研究旨在探讨转导酵母NDI1基因对线粒体ND1基因突变的Leigh综合征细胞模型的恢复效果,从而为线粒体复合体I基因突变所致Leigh综合征的基因治疗提供研究基础。已知线粒体复合体Ⅰ的ND1基因的m.3697G>A突变是Leigh综合征的致病突变之一... 详细信息

该研究旨在探讨转导酵母NDI1基因对线粒体ND1基因突变的Leigh综合征细胞模型的恢复效果,从而为线粒体复合体I基因突变所致Leigh综合征的基因治疗提供研究基础。已知线粒体复合体Ⅰ的ND1基因的m.3697G>A突变是Leigh综合征的致病突变之一。该研究采用已构建的携带该ND1基因突变的胞质杂合细胞作为线粒体复合体I基因突变的Leigh综合征细胞模型,将酵母NDI1基因的重组慢病毒转导至该细胞模型中表达NDI1蛋白(即酵母复合体I),检测NDI1蛋白对线粒体复合体I各方面功能的恢复效果。酵母NDI1基因转导该细胞模型后能高效表达并定位于线粒体。转导酵母NDI1基因可以恢复复合体I酶活性(外源酵母复合体Ⅰ的补偿)、线粒体有关的氧耗水平、线粒体偶联效率、线粒体有关的ATP水平,并且可以降低线粒体氧化应激水平、线粒体自噬水平。在线粒体复合体Ⅰ基因突变的Leigh综合征细胞模型中,酵母复合体Ⅰ可以替代性补偿线粒体的氧化磷酸化功能,并且可以缓解线粒体的氧化应激和自噬状态。该研究结果可以为线粒体复合体Ⅰ基因突变所致Leigh综合征的基因治疗提供研究基础。

关键词： Leigh综合征线粒体复合体Ⅰ 基因突变基因治疗

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