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Oxygen Atom‑Concentrating Short Fibrous Sponge Regulates Cellular Respiration for Wound Healing

Advanced Fiber Materials 2023年第5期5卷 1773-1787页

作者： Xiaohan Fu Juan Wang Dejian Qian Linhe Xi Liang Chen Yawei Du Wenguo Cui Yan Wang Department of Plastic Surgery Key Laboratory of Birth Regulation and Control Technology of National Health Commission of ChinaShandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao UniversityJinan 250014People’s Republic of China Department of Orthopedics Shanghai Key Laboratory for Prevention and Treatment of Bone and Joint DiseasesShanghai Institute of Traumatology and OrthopedicsRuijin HospitalShanghai Jiao Tong University School of Medicine197 Ruijin 2nd RoadShanghai 200025People’s Republic of China Department of Orthopedic Surgery The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan HospitalJinan 250014People’s Republic of China Department of Plastic Surgery The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan HospitalJinan Clinical Research Center for Tissue Engineering Skin Regeneration and Wound RepairJinan 250014People’s Republic of China

Cellular respiration can provide energy for wound ***,some of retarded healing processes in local hyperglycemic environment suffer from a decrease in cellular adaptation to oxygen,thus reducing in situ oxidative ***,a three-dimensional(3D)extracellular matrix(ECM)bionic short fibrous sponge was prepared for chronic diabetic wound healing and effectively regulated cellular respiration by enhancing cellular adaptation to oxygen and remolding the local tissue *** 3D bionic sponge scaffold exhibited good cell adhesion,biocompatibility,bioactivity,and,most importantly,aggregated oxygen atoms on the graphene oxide(GO)*** an in vitro assay,the oxygen atom-concentrating short fibrous sponge activated monocyte chemoattractant protein-1(MCP-1),induced the expression of vascular endothelial growth factor(VEGF),and effectively promoted angiogenesis in a hyperglycemic *** sponge was also applied to diabetic wounds in vivo to verify its roles in the promotion of angiogenesis and collagen *** experiments confirmed the synergistic effect of GO with adipose-derived stem cells(ADSCs),which could further promote diabetic wound ***,oxygen atom-concentrating short fibrous sponges that regulate cellular respiration provide a new idea for the repair of poorly healing wounds by improving oxidative metabolism and have importantclinical significance.

关键词： Cellular respiration Graphene oxide MCP-1 Short fibrous sponge Wound healing

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Personalized cervical plug combines mechanical and biological regulation for enhanced embryo implantation and live births

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Matter 2025年第6期8卷

作者： Chen, Mei Dai, Mengyuan Hong, Gonghua Li, Fangyuan Wu, Yue Pu, Yiran Liu, Jialing Zhang, Yaoyao Huang, Wei Guo, Junling BMI Center for Biomass Materials and Nanointerfaces National Engineering Laboratory for Clean Technology of Leather Manufacture Ministry of Education Key Laboratory of Leather Chemistry and Engineering College of Biomass Science and Engineering Sichuan University Sichuan Chengdu610065 China Key Laboratory of Birth Defects and Related of Women and Children of Ministry of Education The Reproductive Medical Center Department of Obstetrics and Gynecology West China Second University Hospital Sichuan University Sichuan Chengdu610041 China State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases West China Hospital of Stomatology Sichuan University Sichuan Chengdu610041 China Bioproducts Institute Department of Chemical and Biological Engineering The University of British Columbia VancouverBCV6T 1Z4 Canada State Key Laboratory of Polymer Materials Engineering Sichuan University Sichuan Chengdu610065 China

Declining birth rates and widespread infertility highlight the urgency of addressing the global population crisis. Despite advancements in in vitro fertilization (IVF) embryo transfer, low implantation rates due to uterine peristalsis and insufficient embryo-endometrium interaction leads to low pregnancy rate and live births. We introduce a personalized, 3D-printed cervical plugging device (CervPlug), tailored to individual cervical dimensions. This non-invasive, patient-friendly intervention effectively improves embryo residence time in the uterus, enhancing embryo-endometrium contact and achieving efficient live births. Moreover, CervPlug also facilitates biological regulation by integrating a supramolecular phenolic nanocomplex composed of green tea polyphenol and Zn2+ ions. This enables controlled release of progesterone, reduces cervical inflammation, and lowers intra-embryonic reactive oxygen species (ROS). In vivo experiments demonstrate that CervPlug significantly increases implantation rates from 45% to 65% and live births, with no significant adverse effects on the reproductive system. This biomaterial-driven strategy offers a safer, less intrusive alternative in reproductive medicine. © 2025 Elsevier Inc.

关键词： Reactive oxygen species

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An Exploration into the Safe and Precise In Vivo Fluorescence Visualization of Uteroplacental Circulation in the NIR-II Window

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ACS applied materials & interfaces 2025年第22期17卷 2025 May 23页

作者： Junyan Zheng Yanyun Ying Jin Li Xiaoming Yu Jiayi Li Jiani Jin Yuhuang Zhang Zhongmin Xu Hao Jin Zhe Feng Jun Qian Dan Zhang Institute of Medical Genetics and Development Key Laboratory of Reproductive Genetics (Ministry of Education) and Women's Hospital Zhejiang University School of Medicine Zhejiang 310006 China. State Key Laboratory of Extreme Photonics and Instrumentation International Research Center for Advanced Photonics Centre for Optical and Electromagnetic Research College of Optical Science and Engineering Zhejiang University Zhejiang 310058 China. State Key Laboratory Breeding Base of Green-Chemical Synthesis Technology Institute of Green Petroleum Processing and Light Hydrocarbon Conversion College of Chemical Engineering Zhejiang University of Technology Hangzhou Zhejiang 310014 China. Key Laboratory of Safety Evaluation of Medical Devices of Zhejiang Province Hangzhou 310018 China. Zhejiang Provincial Birth Defect Control and Prevention Research Center Hangzhou 310006 China.

The uteroplacental circulation is essential for maintaining normal placental physiology and ensuring fetal development. Imaging this circulation is crucial for a comprehensive understanding of its physiological characteristics and associated pathological processes. Fluorescence imaging in the second near-infrared window (NIR-II, 900-1880 nm) offers significant advantages, including high resolution and deep tissue penetration, facilitating more accurate in vivo assessments. In this study, we employed nanoparticles composed of organic fluorescent dyes with NIR-II emission for precise imaging of the uteroplacental circulation. This approach enabled visualization of the uterine artery and placental blood perfusion in pregnant mice with high resolution. We successfully examined the developmental status across different pregnancy stages and assessed pathological alterations associated with inflammation-induced injury. Furthermore, the maternal and fetal safety of the nanoparticles was validated through comprehensive evaluations. These investigations present a novel approach for studying the formation and development of uteroplacental circulation, as well as related pathological conditions.

关键词： NIR-II fluorescence imaging maternal and fetal safety nanoparticle placenta uteroplacental circulation

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Intestinal Microbiota in Early Life and Its Implications on Childhood Health

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Genomics, Proteomics & Bioinformatics 2019年第1期17卷 13-25页

作者： Lu Zhuang Haihua Chen Sheng Zhang Jiahui Zhuang Qiuping Li Zhichun Feng Affiliated Bayi Children's Hospital The Seventh Medical Center of PLA General Hospital National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology Beijing Key Laboratory of Pediatric Organ Failure The First Clinical Academy of Dalian Medical University College of the Environment Northeast Normal University

Trillions of microbes reside in the human body and participate in multiple physiological and pathophysiological processes that affect host health throughout the life cycle. The microbiome is hallmarked by distinctive compositional and functional features across different life *** evidence has shown that microbes residing in the human body may play fundamental roles in infant development and the maturation of the immune system. Gut microbes are thought to be essential for the facilitation of infantile and childhood development and immunity by assisting in breaking down food substances to liberate nutrients, protecting against pathogens, stimulating or modulating the immune system, and exerting control over the hypothalamic–pituitary–adrenal *** review aims to summarize the current understanding of the colonization and development of the gut microbiota in early life, highlighting the recent findings regarding the role of intestinal microbes in pediatric diseases. Furthermore, we also discuss the microbiota-mediated therapeutics that can reconfigure bacterial communities to treat dysbiosis.

关键词： Intestinal microbiota Immunity Gut-brain axis Early life Diseases Microbiota manipulation

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Target Analysis and Suspect Screening of Per- and Poly-Fluoroalkyl Substances in Paired Samples of Maternal Serum, Umbilical Cord Serum, and Placenta Near Fluorochemical Plants in Fuxin, China

SSRN

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SSRN 2022年

作者： Bao, Jia Shao, Li-Xin Liu, Yang Cui, Shi-Wei Wang, Xin Lu, Gui-Lin Wang, Xue Jin, Yi-He School of Environmental and Chemical Engineering Shenyang University of Technology Shenyang110870 China The National Institute for Occupational Health and Poison Control Chinese Center for Disease Control and Prevention Beijing100050 China Key Laboratory of Industrial Ecology and Environmental Engineering MOE School of Environmental Science and Technology Dalian University of Technology Dalian116024 China

The levels of legacy per- and poly-fluoroalkyl substances (PFASs) have been progressively growing in the environmental matrices and blood of residents living around the fluorochemical industrial park (FIP) in Fuxin of China over the past decade. Although some recent studies have reported occurrence of novel PFAS alternatives in biotic and abiotic matrices near fluorochemical facilities worldwide, little is known about novel PFAS congeners in maternal sera, umbilical cord sera, and placentas from the female residents close to the FIP and their possibly related health risks. In the present study, 50 paired samples of maternal and cord serum as well as placenta were derived from Fuxin pregnant women at delivery, and 21 target analytes of legacy PFASs in all the samples were analyzed via high-performance liquid chromatography–tandem mass spectrometry (HPLC–MS/MS), revealing that PFBS, PFBA, and PFOA were the dominant PFAS contaminants observed in the whole samples with an overall increasing trend recently. Based upon the suspect screening through high-resolution mass spectrometry (HRMS), 49 novel PFASs assigned to 11 classes were further identified in the Fuxin samples, of which, 20 novel congeners in 4 classes were reported in human blood and placentas for the first time. Moreover, the coefficients for mother-placenta transfer (Rm/p), placenta-newborn transfer (Rp/n), and mother-newborn transfer (Rm/n) of legacy PFASs could be calculated with median values of 1.7, 1.1, and 2.0, respectively, and Rm/p, Rp/n, and Rm/n for each novel PFAS identified were also estimated with the median values of 0.9, 1.2, and 0.8 individually. Subsequently, possible biotransformation pathways of legacy PFSAs and PFCAs during placental transfer could also be proposed. In addition, significant correlations were determined among the neonate birth outcomes and serum concentrations of thyroid hormone, sex hormone, and glucocorticoid, together with the levels of certain legacy and novel PFASs in

关键词： Screening

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The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals

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The Innovation 2025年第2期6卷 28-40,27页

作者： Lei-Yun Wang Bing Yu Ying Peng Kai Mou Yan Zhan Yi-Min Wang Wei Ji Chun Xu Le-Dong Xiao Yan Chen Hua Wang Zhi-Hua She Peng Dai Gan-Ye Zhao Yang Wang Lu-Lu Yu Miao Yu Ke Liu Jia-Jia Cui Rong Liu Xi Li Yuan-Fei Huang Zhao-Qian Liu Dong-Sheng Ouyang Wei Zhang Qing Li Xing-Liang Xiong Cheng-Xian Guo Jin-Gao Li Qiao-Li Lv Qing-He Xing Hai-Jian Wang Zhi-Ling Li Ji-Chu Wu Long-Jian Huang Jian He Li-Ming Tan Wen-Xu Hong Xue-Chang Wang Chao-Peng Li Qin Lu Long Zhang Xiang-Dong Kong Hong-Hao Zhou Ji-Ye Yin Department of Clinical Pharmacology Xiangya HospitalCentral South UniversityChangsha 410078China Engineering Research Center of Applied Technology of Pharmacogenomics Ministry of EducationChangsha 410078China National Clinical Research Center for Geriatric Disorders Changsha 410008China Institute of Clinical Pharmacology Hunan Key Laboratory of PharmacogeneticsCentral South UniversityChangsha 410078China The Genetics and Prenatal Diagnosis Center The Department of Obstetrics and GynecologyThe First Affiliated Hospital of Zhengzhou UniversityZhengzhou 450052China Department of Genetic Laboratory Zibo Maternal and Child Health HospitalZibo 255000China The Hunan Children’s Hospital Changsha 410000China National Health Commission Key Laboratory of Birth Defects Research Prevention and TreatmentHunan Provincial Maternal and Child Health Care HospitalChangsha 410000China Department of Pharmacy Hunan Provincial Maternal and Child Health Care HospitalChangsha 410008China Genetalks Co.Ltd. Changsha 410008China Xiangya Medical Laboratory Central South UniversityChangsha 410078China Salus Med Co.Ltd. Shenzhen 518107China Department of Pharmacy Traditional Chinese and Western Medicine Hospital of WuhanTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Department of Pharmacy Wuhan No.1 HospitalWuhan 430022China Department of Pharmacy Xiangya HospitalCentral South UniversityChangsha 410078China Department of General Surgery Xiangya HospitalCentral South UniversityChangsha 410078China Department of Geriatric Surgery Xiangya HospitalCentral South UniversityChangsha 410078China Hunan Key Laboratory for Bioanalysis of Complex Matrix Samples Changsha Duxact Biotech Co.Ltd.Changsha 410000China Center of Clinical Pharmacology The Third Xiangya HospitalCentral South UniversityChangsha 410013China Department of Radiation Oncology Jiangxi Cancer HospitalNanchang 330029China NHC Key Laboratory of Personalized Diagnosis and Treatment of Nasopharyngeal Carcinom

Pharmacogenomic landscapes and related databases are important for identifying the biomarkers of drug response and ***,these data are still lacking for the Chinese *** this study,we constructed a pharmacogenomic landscape and an associated database using whole-genome sequencing data generated by non-invasive prenatal testing in 206,640 Chinese *** total,1,577,513 variants(including 331,610 novel variants)were identified among 3,538 pharmacogenes related to 2,086 *** found that the variant spectrum in the Chinese population differed among the seven major *** differences also exist among provinces in *** average numbers of drug enzyme,transporter,and receptor variants were 258,557,and 632,*** correlation analysis indicated that the pharmacogenes affecting multiple drugs had fewer *** the 16 categories of drugs,we found that nervous system,cardiovascular system,and genitourinary system/sex hormone drugs were more likely to be affected by variants of *** of the variants in the enzyme,transporter,and receptor subfamilies showed *** explore the clinical utility of these data,a genetic association study was conducted on 1,019 lung cancer *** novel variants,AKT2 chr19:40770621 C>G and SLC19A1 chr21:46934171 A>C,were identified as novel platinum response ***,a pharmacogenomic database,named the Chinese Pharmacogenomic Knowledge Base(CNPKB:http://***/),was constructed to collect all the *** summary,a pharmacogenomic landscape and database for the Chinese population were constructed in this study,which could support personalized Chinese medicine in the future.

关键词： pharmacogenomics Chinese population personalized medicine pharmacogenomic landscapes associated database whole genome sequencing identifying biomarkers pharmacogenetic variants

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Application of next generation sequencing in the screening of monogenic diseases in China,2021:a consensus among Chinese newborn screening experts

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World Journal of Pediatrics 2022年第4期18卷 235-242页

作者： Fan Tong Jian Wang Rui Xiao Bing-Bing Wu Chao-Chun Zou Ding-Wen Wu Hua Wang Hui Zou Lian-Shu Han Lin Yang Lin Zou Ming-Yan Hei Ru-Lai Yang Tian-Ming Yuan Wei Wen Xin-Wen Huang Xue-Fan Gu Yan-Ling Yang Yong-Lan Huang Yong-Jun Zhang Yong-Guo Yu Zheng-Feng Xu Wen-Hao Zhou Zheng-Yan Zhao Children’s Hospital Zhejiang University School of MedicineNational Clinical Research Center for Child Health3333 Binsheng RoadBinjiang DistrictHangzhou 310052China Shanghai Children’s Medical Center Shanghai Jiaotong University School of MedicineShanghaiChina National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention Screening and Diagnostic R and D CenterHangzhouChina Center for Molecular Medicine Children’s Hospital of Fudan University399 Wan Yuan RoadMin Xing DistrictShanghai 200000China National Health Commission Key Laboratory for Birth Defect Research and Prevention Maternal and Child Health Hospital of Hunan ProvinceChangshaChina Jinan Maternity and Child Care Hospital Affiliated To Shandong First Medical University JinanChina Xinhua Hospital Shanghai Institute for Pediatric ResearchShanghai Jiao Tong University School of MedicineShanghaiChina Clinical Genetic Center Children’s Hospital of Fudan UniversityShanghaiChina Children’s Hospital Shanghai Jiaotong UniversityShanghaiChina Neonatal Center Beijing Children’s HospitalCapital Medical UniversityBeijingChina Affiliated Shenzhen Maternity and Child Healthcare Hospital Southern Medical UniversityShenzhenChina Xinhua Hospital School of MedicineShanghai Jiaotong UniversityShanghaiChina Peking University First Hospital BeijingChina Guangzhou Women and Children’s Medical Center GuangzhouChina Center of Genetic Medicine Women’s Hospital of Nanjing Medical UniversityNanjing Maternity and Child Health Care HospitalNanjingChina

Newborn screening(NBS)refers to a maternal and newborn healthcare technology,in which special examinations of congenital and genetic diseases that could seriously impact the health of newborns,are implemented during the neonatal period to provide early diagnosis and treatment[1].With a history of more than 60 years,NBS has advanced greatly due to technological progress resulting in significant improvement in the number of diseases covered by NBS and in screening efficiency[2-7].

关键词： diseases diagnosis congenital

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Biomarkers of aging

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Science China(Life Sciences) 2023年第5期66卷 893-1066页

作者： Aging Biomarker Consortium Hainan Bao Jiani Cao Mengting Chen Min Chen Wei Chen Xiao Chen Yanhao Chen Yu Chen Yutian Chen Zhiyang Chen Jagadish K Chhetri Yingjie Ding Junlin Feng Jun Guo Mengmeng Guo Chuting He Yujuan Jia Haiping Jiang Ying Jing Dingfeng Li Jiaming Li Jingyi Li Qinhao Liang Rui Liang Feng Liu Xiaoqian Liu Zuojun Liu Oscar Junhong Luo Jianwei Lv Jingyi Ma Kehang Mao Jiawei Nie Xinhua Qiao Xinpei Sun Xiaoqiang Tang Jianfang Wang Qiaoran Wang Siyuan Wang Xuan Wang Yaning Wang Yuhan Wang Rimo Wu Kai Xia Fu-Hui Xiao Lingyan Xu Yingying Xu Haoteng Yan Liang Yang Ruici Yang Yuanxin Yang Yilin Ying Le Zhang Weiwei Zhang Wenwan Zhang Xing Zhang Zhuo Zhang Min Zhou Rui Zhou Qingchen Zhu Zhengmao Zhu Feng Cao Zhongwei Cao Piu Chan Chang Chen Guobing Chen Hou-Zao Chen Jun Chen Weimin Ci Bi-Sen Ding Qiurong Ding Feng Gao Jing-Dong JHan Kai Huang Zhenyu Ju Qing-Peng Kong Ji Li Jian Li Xin Li Baohua Liu Feng Liu Lin Liu Qiang Liu Qiang Liu Xingguo Liu Yong Liu Xianghang Luo Shuai Ma Xinran Ma Zhiyong Mao Jing Nie Yaojin Peng Jing Qu Jie Ren Ruibao Ren Moshi Song Zhou Songyang Yi Eve Sun Yu Sun Mei Tian Shusen Wang Si Wang Xia Wang Xiaoning Wang Yan-Jiang Wang Yunfang Wang Catherine CL Wong Andy Peng Xiang Yichuan Xiao Zhengwei Xie Daichao Xu Jing Ye Rui Yue Cuntai Zhang Hongbo Zhang Liang Zhang Weiqi Zhang Yong Zhang Yun-Wu Zhang Zhuohua Zhang Tongbiao Zhao Yuzheng Zhao Dahai Zhu Weiguo Zou Gang Pei Guang-Hui Liu Aging Biomarker Consortium(ABC) Beijing 100101China CAS Key Laboratory of Genomic and Precision Medicine Beijing Institute of GenomicsChinese Academy of Sciences and China National Center for BioinformationBeijing 100101China State Key Laboratory of Stem Cell and Reproductive Biology Institute of ZoologyChinese Academy of SciencesBeijing 100101China Department of Dermatology Xiangya HospitalCentral South UniversityChangsha 410008China Hunan Key Laboratory of Aging Biology Xiangya HospitalCentral South UniversityChangsha 410008China National Clinical Research Center for Geriatric Disorders Xiangya HospitalCentral South UniversityChangsha 410008China Clinic Center of Human Gene Research Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Hubei Clinical Research Center of Metabolic and Cardiovascular Disease Huazhong University of Science and TechnologyWuhan 430022China Hubei Key Laboratory of Metabolic Abnormalities and Vascular Aging Huazhong University of Science and TechnologyWuhan 430022China Stem Cell Translational Research Center Tongji HospitalTongji University School of MedicineShanghai 200065China Department of Nuclear Medicine Daping HospitalThird Military Medical UniversityChongqing 400042China CAS Key Laboratory of Nutrition Metabolism and Food SafetyShanghai Institute of Nutrition and HealthUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China Shanghai Key Laboratory of Maternal Fetal Medicine Clinical and Translational Research Center of Shanghai First Maternity and Infant HospitalFrontier Science Center for Stem Cell ResearchShanghai Key Laboratory of Signaling and Disease ResearchSchool of Life Sciences and TechnologyTongji UniversityShanghai 200092China The Department of Endovascular Surgery The First Affiliated Hospital of Zhengzhou UniversityZhengzhou 450052China Key Laboratory of Regenerative Medicine of Ministry of Education Institute of Ageing and Regenerative MedicineJ

Aging biomarkers are a combination of biological parameters to(i)assess age-related changes,(ii)track the physiological aging process,and(iii)predict the transition into a pathological *** a broad spectrum of aging biomarkers has been developed,their potential uses and limitations remain poorly *** immediate goal of biomarkers is to help us answer the following three fundamental questions in aging research:How old are we?Why do we get old?And how can we age slower?This review aims to address this ***,we summarize our current knowledge of biomarkers developed for cellular,organ,and organismal levels of aging,comprising six pillars:physiological characteristics,medical imaging,histological features,cellular alterations,molecular changes,and secretory *** fulfill all these requisites,we propose that aging biomarkers should qualify for being specific,systemic,and clinically relevant.

关键词： aging senescence biomarker clock

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Perspectives of genetic management strategy for inherited cardiovascular diseases in China

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Chinese Medical Journal 2024年第8期137卷 959-961页

作者： Yaoyao Zhang Yanjiang Zheng Mengyuan Dai Kaiyu Zhou Lijun Fu Yuxuan Guo Yihua He Fen Li Rui Gao Donghui Zhang Xujie Liu Jie Tian Yimin Hua Yifei Li Lang Qin Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE West China Second University HospitalSichuan UniversityChengduSichuan 610041China Department of Department of Obstetrics and Gynecology West China Second University HospitalSichuan UniversityChengduSichuan 610041China Department of Pediatrics West China Second University HospitalSichuan UniversityChengduSichuan 610041China Department of Cardiology Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghai 200025China Peking University Health Science Center School of Basic Medical SciencesThe Institute of Cardiovascular SciencesKey Laboratory of Molecular Cardiovascular Science of Ministry of EducationBeijing 100191China Department of Ultrasound Beijing Anzhen Hospital affiliated to Capital Medical UniversityBeijing 100029China State Key Laboratory of Biocatalysis and Enzyme Engineering School of Life ScienceHubei UniversityWuhanHubei 430062China Shenzhen Key Laboratory of Cardiovascular Disease Fuwai Hospital Chinese Academy of Medical SciencesShenzhenGuangdong 518052China Department of Cardiology Ministry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and Disorders(Chongqing)China International Science and Technology Cooperation Base of Child Development and Critical DisordersChildren’s Hospital of Chongqing Medical UniversityChongqing 400014China

Inherited cardiovascular diseases(CVDs)threaten human health and pose an enormous economic burden *** alteration is a major risk factor for many *** disorders are usually controlled by a pair of alleles,affecting offspring according to the Mendelian principle,regardless of isolated primary damage or secondary injury from other syndromes or *** date,there are hundreds of inherited *** advances in nextgeneration sequencing(NGS)technologies,rapid and accurate molecular diagnosis of patients with inherited CVDs is clinically ***,great improvements have been made in recent years,and targeted therapy and assist devices have been used in clinical *** there is still no totally efficient strategy for dealing with inherited ***.

关键词： diagnosis hundreds dealing

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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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