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Human genetic and immunological determinants of critical COVID-19 pneumonia

四川生理科学杂志 2021年第11期43卷 1947-1947页

作者： Qian Zhang St Giles laboratory of Human Genetics of Infectious Diseases Rockefeller Branch The Rockefeller University New York NY USA laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163 Necker Hospital for Sick Children Paris France University of Paris Imagine Institute Paris France Howard Hughes Medical Institute Paris France The Rockefeller University & Howard Hughes Medical Institute New York NY USA Necker Hospital for Sick Children & INSERM Paris France Department of Pediatrics Necker Hospital for Sick Children Paris France Cemil Taşcıoglu City Hospital Istanbul Turkey laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163 Necker Hospital for Sick Children Paris France Imagine Institute University of Paris Paris France Al Jalila Children’s Hospital Dubai United Arab Emirates San Raffaele Telethon Institute for Gene Therapy IRCCS Ospedale San Raffaele and Vita Salute San Raffaele University Milan Italy Hospices Civils de Lyon Lyon France Helix San Mateo CA USA Department of Intensive Care Medicine Critical Care Center CHU Lille Lille France Univ. Lille CNRS Inserm CHU Lille Institut Pasteur de Lille U1019-UMR9017-CIIL-Centre d’Infection et d’Immunité deLille Lille France Shupyk National Medical Academy for Postgraduate Education Kiev Ukraine Department of Medical Microbiology University Medical Center Utrecht Utrecht The Netherlands Sidra Medicine Doha Qatar Primary Immunodeficiencies Group Department of Microbiology and Parasitology School of Medicine University of Antioquia Medellín Colombia School of Microbiology University of Antioquia Medellín Colombia IIBB-CSIC IDIBAPS Barcelona Spain Department of Immunology Second Faculty of Medicine Charles University University Hospital in Motol Prague Czech Republic Department of Immunology Dmitry Rogachev National Medical Research Center of Pediatric Hematology Oncology and Immunology Moscow Russia Pulmonology Department Cliniques Universitaire

SARS-CoV-2 infection is benign in most individuals but,in-10%of cases,it triggers hypoxemic COVID-19 pneumonia,which becomes critical in-3%of *** ensuing risk of death(-1%)doubles every five years from childhood onward and is-1.5 times greater in men than in *** are the molecular and cellular determinants of critical COVID-19 pneumonia?Inborn errors of type I IFNs,including autosomal TLR3 and X-linked TLR7 deficiencies,are found in-1-5%of patients with critical pneumonia under 60 years old.

关键词： pneumonia critical cases

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将医疗保健干预措施从试验转化为实践

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英国医学杂志中文版 2010年第6期13卷 361-365页

作者： Paul Glasziou Iain Chalmers Douglas G Altman Hilda Bastian IsabeUe Boutron Anne Brice Gro Jamtvedt Andrew Farmer Davina Ghersi Trish Groves Carl Heneghan Sophie Hill Simon Lewin Susan Michie Rafael Perera Valerie Pomeroy Julie Tilson Sasha Shepperd John W Williams 周久顺(译) 张孔来(校) Department of Public Health and Primary Care University of Oxford Oxford OX3 7LF James Lind Initiative Oxford OX2 7LG Centre for Statistics in Medicine Oxford OX2 6UD German Institute for Quality and Efficiency in Health Care Cologne Germany INSERM Universite Paris Paris France Norwegian Knowledge Centre for the Health Services Oslo Norway Department of research Policy and Cooperation World Health Organization Geneva BMJ London Centre for Health Communication and Participation Australian Institute for Primary Care La Trobe University Victoria Australia Division of Psychology and language Sciences University Coflege London London WC1E 7HB Health and Social Sciences research Institute Faculty of Health University of East Anglia Norwich Division of Biokinesiology and Physical Therapy University of Southern California Los Angeles CA USA Duke Evidence -based Practice Center Duke University and Durham VA Medical Center Durham NC USA 中国医学科学院基础医学研究所流行病与卫生统计学教研室

成千上万的试验结果从未被用于实践，因为其发表的报告未能详细地描述具体的干预措施。如何才能改进这些报告呢？

关键词：干预措施医疗保健试验转化

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Comparative and population genomics of buckwheat species reveal key determinants of flavor and fertility

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Molecular Plant 2023年第9期16卷 1427-1444页

作者： Kaixuan Zhang Yuqi He Xiang Lu Yaliang Shi Hui Zhao Xiaobo Li Jinlong Li Yang Liu Yinan Ouyang Yu Tang Xue Ren Xuemei Zhang Weifei Yang Zhaoxia Sun Chunhua Zhang Muriel Quinet Zlata Luthar Mateja Germ Ivan Kreft Dagmar Janovska Vladimir Meglic Barbara Pipan Milen I.Georgiev Bruno Studer Mark A.Chapman Meiliang Zhou Institute of Crop Sciences Chinese Academy of Agricultural SciencesNational Crop Genebank BuildingZhongguancun South Street No.12Haidian DistrictBeijing 100081China College of Agronomy Sichuan Agricultural UniversityChengdu 611130China Annoroad Gene Technology(Beijing)Co. LtdBeijing 100176China College of Agriculture Institute of Agricultural BioengineeringShanxi Agricultural UniversityTaigu 030801ShanxiChina Shanxi Key laboratory of Minor Crops Germplasm Innovation and Molecular Breeding Shanxi Agricultural UniversityTaiyuan 030031ShanxiChina Tongliao Institute Agricultural and Animal Husbandry Sciences Tongliao 028015Inner MongoliaChina Groupe de Recherche en Physiologie Ve´ge´tale(GRPV) Earth and Life Institute-Agronomy(ELI-A)Universite´Catholique de LouvainCroix du Sud 4-5bo^ıte L7.07.13B-1348Louvain-la-NeuveBelgium Biotechnical Faculty University of Ljubljana1000 LjubljanaSlovenia Nutrition Institute Trzaska 401000 LjubljanaSlovenia Gene Bank Crop Research InstituteDrnovska´507Prague 6Czech Republic Agricultural Institute of Slovenia Hacquetova ulicaLjubljanaSlovenia laboratory of Metabolomics Institute of MicrobiologyBulgarian Academy of SciencesPlovdivBulgaria Center of Plant Systems Biology and Biotechnology PlovdivBulgaria Molecular Plant Breeding Institute of Agricultural SciencesETH ZurichUniversitaetstrasse 28092 ZurichSwitzerland Biological Sciences University of SouthamptonLife Sciences Building 85Highfield CampusSouthampton SO171BJUK

Common buckwheat(Fagopyrum esculentum)is an ancient crop with a world-wide *** to its excellent nutritional quality and high economic and ecological value,common buckwheat is becoming increasingly important throughout the *** availability of a high-quality reference genome sequence and population genomic data will accelerate the breeding of common buckwheat,but the high heterozygosity due to the outcrossing nature has greatly hindered the genome *** we report the assembly of a chromosome-scale high-quality reference genome of *** ***,a homozygous self-pollinating variant of common *** genomics revealed that two cultivated buckwheat species,common buckwheat(***)and Tartary buckwheat(***),underwent metabolomic divergence and ecotype *** expansion of several gene families in common buckwheat,including FhFAR genes,is associated with its wider distribution than Tartary *** number variation of genes involved in the metabolism of flavonoids is associated with the difference of rutin content between common and Tartary ***,we present a comprehensive atlas of genomic variation based on whole-genome resequencing of 572 accessions of common *** and evolutionary genomics reveal genetic variation associated with environmental adaptability and floral development between Chinese and non-Chinese cultivated ***-wide association analyses of multi-year agronomic traits with the content of flavonoids revealed that Fh05G014970 is a potential major regulator of flowering period,a key agronomic trait controlling the yield of outcrossing crops,and that Fh06G015130 is a crucial gene underlying flavor-associated ***,we found that the gene translocation and sequence variation of FhS-ELF3 contribute to the homomorphic self-compatibility of common ***,our results elucidate the genetic basis of spe

关键词： buckwheat genomics natural variation adaptation flavonoids Fagopyrum

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A TDG/CBP/RARα Ternary Complex Mediates the Retinoic Acid-dependent Expression of DNA Methylation-sensitive Genes

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genomics, Proteomics & Bioinformatics 2014年第1期12卷 8-18页

作者： Hélène Léger Caroline Smet-Nocca Amel Attmane-Elakeb Sara Morley-Fletcher Arndt G.Benecke Sebastian Eilebrecht Vaccine research Institute INSERM U955Institut Mondor de Recherche Biomédicale Institut des Hautes tudes Scientifiques Unité de Glycobiologie Structurale et Fonctionnelle–CNRS UMR 8576 Group of NMR and Structural BiologyUniversité Lille 1 Unité de Glycobiologie Structurale et Fonctionnelle–CNRS UMR 8576 Neuroplasticity TeamUniversité Lille 1 CNRS UMR 7224 Université Pierre et Marie Curie

The thymine DNA glycosylase （TDG） is a multifunctional enzyme,which is essential for embryonic *** mediates the base excision repair （BER） of G：T and G：U DNA mismatches arising from the deamination of 5-methyl cytosine （5-MeC） and cytosine,*** studies have pointed at a role of TDG during the active demethylation of 5-MeC within CpG *** interacts with the histone acetylase CREB-binding protein （CBP） to activate CBP-dependent *** addition,TDG also interacts with the retinoic acid receptor α （RARα）,resulting in the activation of RARα target *** we provide evidence for the existence of a functional ternary complex containing TDG,CBP and activated RARα.Using global transcriptome profiling,we uncover a coupling of de novo methylation-sensitive and RA-dependent transcription,which coincides with a significant subset of CBP target *** introduction of a point mutation in TDG,which neither affects overall protein structure nor BER activity,leads to a significant loss in ternary complex stability,resulting in the deregulation of RA targets involved in cellular networks associated with DNA replication,recombination and *** thus demonstrate for the first time a direct coupling of TDG＇s epigenomic and transcription regulatory function through ternary complexes with CBP and RARα.

关键词： CREB-binding protein Thymine DNA glycosylase Retinoic acid receptor α Transcription regulation Cytosine DNA methylation Epigenomics

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Haplotype-resolved genome assembly and allele- specific gene expression in cultivated ginger

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Horticulture research 2021年第1期8卷 2531-2545页

作者： Shi-Ping Cheng Kai-Hua Jia Hui Liu Ren-Gang Zhang Zhi-Chao Li Shan-Shan Zhou Tian-Le Shi Ai-Chu Ma Cong-Wen Yu Chan Gao Guang-Lei Cao Wei Zhao Shuai Nie Jing-Fang Guo Si-Qian Jiao Xue-Chan Tian Xue-Mei Yan Yu-Tao Bao Quan-Zheng Yun Xin-Zhu Wang Ilga Porth Yousry AEl-Kassaby Xiao-Ru Wang Zhen Li Yves Van de Peer Jian-Feng Mao Pingdingshan University Henan Province Key Laboratory of Germplasm Innovation and Utilization of Eco-economic Woody PlantPingdingshan 467000 HenanChina Beijing Advanced Innovation Center for Tree Breeding by Molecular Design National Engineering Laboratory for Tree BreedingKey Laboratory of Genetics and Breeding in Forest Trees and Ornamental PlantsMinistry of EducationCollege of Biological Sciences and TechnologyBeijing Forestry UniversityBeijing 100083China Ori(Shandong)Gene Science and Technology Co. LtdWeifang 261000 ShandongChina Pingdingshan Academy of Agricultural Sciences Pingdingshan 467000 HenanChina Department of Ecology and Environmental Science UPSCUmea UniversityUmeaSweden Departement des Sciences du Bois et de la Foret Facultede Foresteriede Geographie et GéomatiqueUniversite Laval QuebecQuebecQC G1V 0A6Canada Department of Forest and Conservation Sciences Faculty of ForestryUniversity of British ColumbiaVancouverBC V6T 1Z4Canada Department of Plant Biotechnology and Bioinformatics Ghent UniversityGhentBelgium VIB Center for Plant Systems Biology 9052 GhentBelgium Centre for Microbial Ecology and genomics Department of BiochemistryGenetics and Microbiology GeneticsUniversity of PretoriaPrivate Bag X20Pretoria 0028South Africa College of Horticulture Academy for Advanced Interdisciplinary StudiesNanjing Agricultural UniversityNanjing 210095China

Ginger(Zingiber officinale)is one of the most valued spice plants worldwide;it is prized for its culinary and folk medicinal applications and is therefore of high economic and cultural ***,we present a haplotype-resolved,chromosome-scale assembly for diploid ginger anchored to 11 pseudochromosome pairs with a total length of 3.1 *** structural variation was identified between haplotypes,and two inversions larger than 15Mb on chromosome 4 may be associated with ginger *** performed a comprehensive,spatiotemporal,genome-wide analysis of allelic expression patterns,revealing that most alleles are coordinately *** alleles that exhibited the largest differences in expression showed closer proximity to transposable elements,greater coding sequence divergence,more relaxed selection pressure,and more transcription factor binding site *** also predicted the transcription factors potentially regulating 6-gingerol *** allele-aware assembly provides a powerful platform for future functional genomics,molecular breeding,and genome editing in ginger.

关键词： resolved closer breeding

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Breast Cancer Risk Genes-Association Analysis in More than 113,000 Women

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四川生理科学杂志 2021年第1期43卷 7-7页

作者： Leila Dorling The authors' affiliations are as follows: the Centre for Cancer Genetic Epidemiology Departments of Public Health and Primary Care (L.D. S. Carvalho J.A. K.A.P. Q.W. M.K.B. J.D. B.D. N. Mavaddat K. Michailidou A.C.A. P.D.P.P. D.F.E.) and Oncology (C.L. P.A.H. C. Baynes D.M.C. L.F. V.R. M. Shah P.D.P.P. A.M.D. D.F.E.) University of Cambridge Cambridge the Centre for Genomic and Experimental Medicine MRC Institute of Genetics and Molecular Medicine (A. Campbell D.J.P.) and the Centre for Cognitive Ageing and Cognitive Epidemiology Department of Psychology (D.J.P.) University of Edinburgh the Cancer Research UK Edinburgh Centre (D.A.C. J.F.) and the Usher Institute of Population Health Sciences and Informatics University of Edinburgh Medical School (A. Campbell J.F.) Edinburgh the Divisions of Informatics Imaging and Data Sciences (E.F.H.) Cancer Sciences (A. Howell) Population Health Health Services Research and Primary Care (A. Lophatananon K. Muir) and Evolution and Genomic Sciences School of Biological Sciences (W.G.N. E.M.V. D.G.E.) University of Manchester the NIHR Manchester Biomedical Research Unit (E.F.H.) and the Nightingale Breast Screening Centre Wythenshawe Hospital (E.F.H. H.I.) Academic Health Science Centre and North West Genomics Laboratory Hub and the Manchester Centre for Genomic Medicine St. Mary's Hospital Manchester University NHS Foundation Trust (W.G.N. E.M.V. D.G.E.) Manchester the School of Cancer and Pharmaceutical Sciences Comprehensive Cancer Centre Guy's Campus King's College London London (E.J.S.) the Institute of Cancer and Genomic Sciences University of Birmingham Birmingham (I.T.) and the Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre University of Oxford Oxford (I.T.) - all in the United Kingdom the Human Genotyping-CEGEN Unit Human Cancer Genetic Program (A.G.-N. M.R.A. N.Á. B.H. R.N.-T.) and the Human Genetics Group (V.F. A.O. J.B.) Spanish National Cancer Research

Background:Genetic testing for breast cancer susceptibility is widely used,but for many genes,evidence of an association with breast cancer is weak,underlying risk estimates are imprecise,and reliable subtype-specific risk estimates are ***:We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 *** separate analyses for protein-truncating variants and rare missense variants in these genes,we estimated odds ratios for breast cancer overall and tumor *** evaluated missense-variant associations according to domain and classification of pathogenicity.

关键词： cancer Breast Cancer

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Gapless genome assembly of azalea and multi-omics investigation into divergence between two species with distinct f lower color

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Horticulture research 2023年第1期10卷 193-206页

作者： Shuai Nie Shi-Wei Zhao Tian-Le Shi Wei Zhao Ren-Gang Zhang Xue-Chan Tian Jing-Fang Guo Xue-Mei Yan Yu-Tao Bao Zhi-Chao Li Lei Kong Hai-Yao Ma Zhao-Yang Chen Hui Liu Yousry AEl-Kassaby Ilga Porth Fu-Sheng Yang Jian-Feng Mao National Engineering research Center of Tree Breeding and Ecological Restoration Beijing Advanced Innovation Center for Tree Breeding by Molecular DesignKey Laboratory of Genetics and Breeding in Forest Trees and Ornamental PlantsMinistry of EducationCollege of Biological Sciences and TechnologyBeijing Forestry UniversityBeijing 100083China Department of Ecology and Environmental Science UmeåPlant Science CentreUmeåUniversitySE-90187 UmeåSweden Department of Bioinformatics Ori(Shandong)Gene Science and Technology Co.Ltd.Weifang 261322China Department of Forest and Conservation Sciences Faculty of ForestryUniversity of British ColumbiaVancouverBCV6T 1Z4Canada Départment des Sciences du Bois et de la Forêt Facultéde Foresteriede Géographie et GéomatiqueUniversitéLavalQuébecQCG1V 0A6Canada State Key laboratory of Systematic and Evolutionary Botany Institute of BotanyChinese Academy of SciencesBeijing 100093China University of Chinese Academy of Sciences Beijing 100049China

The genus Rhododendron(Ericaceae),with more than 1000 species highly diverse in f lower color,is providing distinct ornamental values and a model system for f lower color ***,we investigated the divergence between two parental species with different f lower color widely used for azalea *** genome assembly was generated for the yellow-f lowered azalea,Rhododendron *** genomics found recent proliferation of long terminal repeat retrotransposons(LTR-RTs),especially Gypsy,has resulted in a 125 Mb(19%)genome size increase in species-specific regions,and a significant amount of dispersed gene duplicates(13402)and pseudogenes(17437).Metabolomic assessment revealed that yellow f lower coloration is attributed to the dynamic changes of carotenoids/f lavonols biosynthesis and chlorophyll ***-ordered gene co-expression networks(TO-GCNs)and the comparison confirmed the metabolome and uncovered the specific gene regulatory changes underpinning the distinct f lower pigmentation.B3 and ERF TFs were found dominating the gene regulation of carotenoids/f lavonols characterized pigmentation in ***,while WRKY,ERF,WD40,C2H2,and NAC TFs collectively regulated the anthocyanins characterized pigmentation in the red-f lowered R *** study employed a multi-omics strategy in disentangling the complex divergence between two important azaleas and provided references for further functional genetics and molecular breeding.

关键词： divergence yellow collective

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Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis

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四川生理科学杂志 2020年第4期42卷 480-480页

作者： Carol C L Chen Department of Human Genetics McGill University Montreal QC H3A 0C7 Canada Canadian Centre for Computational genomics McGill University Montreal QC H3A 0E9 Canada Dana-Farber/Boston Children’s Cancer and Blood Disorders Center Boston MA 02215 USA Department of Pathology Montreal Children’s Hospital McGill University Health Centre Montreal QC H4A 3J1 Canada UCL Queen Square Institute of Neurology London WC1N 3BG UK Department of Pediatrics McGill University and The Research Institute of the McGill University Health Centre Montreal QC H4A 3J1 Canada Samantha Dickson Brain Cancer Unit University College London Cancer Institute London United Kingdom Second Department of Paediatrics Semmelweis University Budapest 1094 Hungary Department of Neurosurgery University of Debrecen Debrecen 4032 Hungary Department of Paediatric Haematology and Oncology Second Faculty of Medicine Charles University and University Hospital Motol Prague 150 06 Czech Republic Department of Pathology and Molecular Medicine Second Faculty of Medicine Charles University and University Hospital Motol Prague 150 06 Czech Republic Children’s Cancer Center The Royal Children’s Hospital Murdoch Children’s research Institute Department of Pediatrics University of Melbourne Parkville VIC 3052 Australia Kids Cancer Centre Sydney Children’s Hospital Randwick NSW 2031 Australia Department of Pathology Centre Hospitalier Universitaire Sainte-Justine Université de Montréal Montréal QC H3T 1C5 Canada Department of Pediatric Oncology Dana-Farber Boston Children’s Cancer and Blood Disorders Center Boston MA 02215 USA School of Computer Science McGill University Montreal QC H3A 2A7 Canada and Murdoch Children’s research Institute Parkville VIC 3052 Australia Department of Biochemistry McGill University Montreal QC H3A 1A3 Canada Department of Pediatric Neurosurgery Centre Hospitalier Universitaire Sainte-Justine Université de Montréal Montréal QC H3T 1C5 Canada Department of Biochemistry and

Histone H3.3 glycine 34 to arginine/valine(G34R/V)mutations drive deadly gliomas and show exquisite regional and temporal specificity,suggesting a developmental context permissive to their *** we show that 50%of G34R/V tumors(n=95)bear activating PDGFRA mutations that display strong selection pressure at *** considered gliomas,G34R/V tumors actually arise in GSX2/DLX-expressing interneuron progenitors,where G34R/V mutations impair neuronal *** lineage of origin may facilitate PDGFRA co-option through a chromatin loop connecting PDGFRA to GSX2 regulatory elements,promoting PDGFRA overexpression and *** the single-cell level,G34R/V tumors harbor dual neuronal/astroglial identity and lack oligodendroglial programs,actively repressed by GSX2/DLX-mediated cell fate specification.G34R/V may become dispensable for tumor maintenance,whereas mutant-PDGFRA is potently ***,our results open novel research avenues in deadly tumors.G34R/V gliomas are neuronal malignancies where interneuron progenitors are stalled in differentiation by G34R/V mutations and malignant gliogenesis is promoted by co-option of a potentially targetable pathway,PDGFRA signaling.

关键词： PDGFRA specificity connecting

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研究神经胶质细胞的新兴技术

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神经损伤与功能重建 2020年第10期15卷 F0003-F0003页

作者： Hélène Hirbec Nicole Déglon Lynette C Foo Inbal Goshen Jaime Grutzendler Emilie Hangen Tirzah Kreisel Nathalie Linck Julien Muffat Sara Regio Sybille Rion Carole Escartin 杜一星 Institute for Functional genomics(IGF) University of MontpellierCNRSINSERMMontpellierFrance laboratory of Neurotherapies and Neuromodulation Department of Clinical NeuroscienceLausanne University HospitalUniversity of LausanneLausanneSwitzerland laboratory of Neurotherapies and Neuromodulation Neuroscience Research CenterLausanne University Hospital and University of LausanneLausanneSwitzerland Neuroimmunology and Neurodegeneration Section The Neuroscience and Rare Diseases Discovery and Translational AreaF.Hoffman-La RocheBaselSwitzerland Edmond and Lily Safra Center for Brain Sciences The Hebrew University of JerusalemJerusalemIsrael Department of Neurology Yale University School of MedicineNew HavenConnecticutUSA Department of Neuroscience Yale University School of MedicineNew HavenConnecticutUSA Commissariatà l'Energie Atomique et aux Energies Alternatives Département de la Recherche FondamentaleInstitut de Biologie François JacobMIRCenFontenay-aux-RosesFrance Centre National de la Recherche Scientifique Neurodegenerative Diseases LaboratoryUniversitéParis-SudUniversitéParis-SaclayUMR 9199Fontenay-aux-RosesFrance Program in Neurosciences and Mental Health The Hospital for Sick Childrenand Department of Molecular GeneticsThe University of TorontoTorontoCanada 不详

大脑的发育、生理功能和病理与神经元和不同类型的神经胶质细胞(如星形胶质细胞、小胶质细胞、少突胶质细胞和少突胶质细胞的前体细胞等)之间的相互作用密切相关。研究脑功能及其功能障碍,除了神经元之外,还需要对不同类型的神经胶质细... 详细信息

大脑的发育、生理功能和病理与神经元和不同类型的神经胶质细胞(如星形胶质细胞、小胶质细胞、少突胶质细胞和少突胶质细胞的前体细胞等)之间的相互作用密切相关。研究脑功能及其功能障碍,除了神经元之外,还需要对不同类型的神经胶质细胞进行研究。近年来,多项技术突破使“神经胶质科学家”能够解决新的具有挑战性的生物学问题。这些技术发展使得以中/高含量工作流研究特定细胞类型的作用成为可能,并在保存完好的环境中对其相互作用进行精细的分析。本综述阐明了几种可能揭示神经胶质细胞在特定脑功能或疾病中作用的尖端实验方法。这些实验方法包括高级细胞培养,诱导多能干细胞(iPSC)衍生的人神经胶质细胞,病毒载体,原位胶质细胞成像,光学遗传学和化学遗传学方法,以及高内涵分子分析。本文还阐述了某些技术的临床转化,通过特定的脑成像方法以监控患者的神经胶质细胞。本文亦讨论了每种技术的优点,缺陷和未来发展,并提供了选定的示例以说明现在如何可以解决特定的“胶质生物学”问题。

关键词：神经胶质细胞少突胶质细胞小胶质细胞星形胶质细胞脑功能细胞培养细胞类型脑成像

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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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