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Genetic pathways in cerebral palsy:a review of the implications for precision diagnosis and understanding disease mechanisms

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Neural Regeneration research 2024年第7期19卷 1499-1508页

作者： Yiran Xu Yifei Li Seidu A.Richard Yanyan Sun Changlian Zhu Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical research Center Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan ProvinceChina National Health Council(NHC)Key Laboratory of birth defects Prevention Henan Key Laboratory of Population Defects PreventionZhengzhouHenan ProvinceChina Department of Human Anatomy School of Basic Medicine and Institute of NeuroscienceZhengzhou UniversityZhengzhouHenan ProvinceChina Center for Brain Repair and Rehabilitation Institute of Neuroscience and PhysiologyUniversity of GothenburgGothenburgSweden

Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and *** with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal *** disturbances severely impact the child’s daily life and impose a substantial economic burden on the *** cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and *** review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy *** is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa *** pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still ***,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy *** r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular ***,exploring targeted genotypes holds potential for precision *** conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral *** breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical *** investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management *** elucidating the underlying cellular mechanisms,w

关键词： cerebral palsy environmental factors etiology genetic factors genetic mutation movement disorder spastic diplegia

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Exosomal let-7a-5p derived from human umbilical cord mesenchymal stem cells alleviates coxsackievirus B3-induced cardiomyocyte ferroptosis via the SMAD2/ZFP36 signal axis

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2024年第5期25卷 422-437页

作者： Xin LI Yanan HU Yueting WU Zuocheng YANG Yang LIU Hanmin LIU Department of Pediatric Pulmonology and Immunology West China Second University HospitalSichuan UniversityChengdu 610041China Key Laboratory of birth defects and Related Diseases of Women and Children(Sichuan University) Ministry of EducationChengdu 610041China NHC Key Laboratory of Chronobiology(Sichuan University) Chengdu 610041China The Joint Laboratory for Lung Development and Related Diseases of West China Second University Hospital Sichuan University and School of Life Sciences of Fudan UniversityWest China Institute of Women and Children's HealthWest China Second University HospitalSichuan UniversityChengdu 610041China Sichuan birth defects Clinical research Center West China Second University HospitalSichuan UniversityChengdu 610041China Department of Pediatrics the Third Xiangya HospitalCentral South UniversityChangsha 410013China

Viral myocarditis(VMC)is one of the most common acquired heart diseases in children and ***,its pathogenesis is still unclear,and effective treatments are *** study aimed to investigate the regulatory pathway by which exosomes alleviate ferroptosis in cardiomyocytes(CMCs)induced by coxsackievirus B3(CVB3).CVB3 was utilized for inducing the VMC mouse model and cellular *** echocardiography,left ventricular ejection fraction(LVEF),and left ventricular fractional shortening(LVFS)were implemented to assess the cardiac *** CVB3-induced VMC mice,cardiac insufficiency was observed,as well as the altered levels of ferroptosis-related indicators(glutathione) peroxidase 4(GPX4),glutathione(GSH),and malondialdehyde(MDA).However,exosomes derived from human umbilical cord mesenchymal stem cells(hucMSCs-exo)could restore the changes caused by CVB3 ***-7a-5p was enriched in hucMSCs-exo,and the inhibitory ffect of hucMSCs-exoa-ie-pmimo on CVB3-induced ferroptosis was higher than that of hucMSCs-exommie N(NC:negative control).Mothers against decapentaplegic homolog 2(SMAD2)increased in the VMC group,while the expression of zinc-finger protein 36(ZFP36)***-7a-5p was confirmed to interact with SMAD2 messenger RNA(mRNA),and the SMAD2 protein interacted directly with the ZFP36 *** SMAD2 and overexpressing ZFP36 inhibited the expression of ferroptosis-related ***,the levels of GPX4,solute carrier family 7,member 11(SLC7A11),and GSH were lower in the SMAD2 overexpression plasmid(oe-SMAD2)+let-7a-5p mimic group than in the oe-NC+let-7a-5p mimic group,while those of MDA,reactive oxygen species(ROS),and Fe^(2+)*** conclusion,these data showed that ferroptosis could be regulated by mediating SMAD2 ***-let-7a-5p derived from hucMSCs could mediate SMAD2 to promote the expression of ZFP36,which further inhibited the ferroptosis of CMCs to alleviate CVB3-induced VMC.

关键词： Exosome Let-7a-5p Mothers against decapentaplegic homolog 2(SMAD2) Coxsackievirus B3(CVB3) Ferroptosis

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Precise genome-editing in human diseases:mechanisms,strategies and applications

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Signal Transduction and Targeted Therapy 2024年第3期9卷 1065-1085页

作者： Yanjiang Zheng Yifei Li Kaiyu Zhou Tiange Li Nathan J.VanDusen Yimin Hua Key Laboratory of birth defects and Related Diseases of Women and Children of MOE Department of PediatricsWest China Second University HospitalSichuan UniversityChengduSichuan 610041China Department of Cardiovascular Surgery West China HospitalSichuan UniversityChengduSichuan 610041China Department of Pediatrics Herman B Wells Center for Pediatric ResearchIndiana University School of MedicineIndianapolisIN 46202USA

Precise genome-editing platforms are versatile tools for generating specific,site-directed DNA insertions,deletions,and *** continuous enhancement of these tools has led to a revolution in the life sciences,which promises to deliver novel therapies for genetic *** genome-editing can be traced back to the 1950s with the discovery of DNA’s doublehelix and,after 70 years of development,has evolved from crude in vitro applications to a wide range of sophisticated capabilities,including in vivo ***,precise genome-editing faces constraints such as modest efficiency,delivery challenges,and off-target *** this review,we explore precise genome-editing,with a focus on introduction of the landmark events in its history,various platforms,delivery systems,and ***,we discuss the landmark events in the history of precise ***,we describe the current state of precise genome-editing strategies and explain how these techniques offer unprecedented precision and versatility for modifying the human ***,we introduce the current delivery systems used to deploy precise genome-editing components through DNA,RNA,and ***,we summarize the current applications of precise genome-editing in labeling endogenous genes,screening genetic variants,molecular recording,generating disease models,and gene therapy,including ex vivo therapy and in vivo therapy,and discuss potential future advances.

关键词： precise generating editing

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Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease

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中华医学杂志(英文版) 2024年第15期137卷 2024 Jul 8页

作者： Gao Han Huang Xianghui Chen Weicheng Feng Zhiyu Zhao Zhengshan Li Ping Tan Chaozhong Wang Jinxin Zhuang Quannan Gao Yuan Min Shaojie Yao Qinyu Qian Maoxiang Ma Xiaojing Wu Feizhen Yan Weili Sheng Wei Huang Guoying Children’s Hospital of Fudan University Shanghai China Shanghai Key Laboratory of birth defects Shanghai China Fujian Key Laboratory of Neonatal Diseases Xiamen Children’s Hospital Xiamen Fujian China research Unit of Early Intervention of Genetically Related Childhood Cardiovascular Diseases Chinese Academy of Medical Sciences Shanghai China

Background: Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/***: Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, andPNPLA4 was identified as the leading candidate gene. To validate, we generatedPNPLA4-overexpressing human induced pluripotent stem cell lines as well aspnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular ***: Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, andPNPLA4 in the Xp22.31 was a candidate gene associated with HTX/***4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series ofin vivo andin vitro analyses at the molecular and cellular levels, we revealed that the biological function ofPNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP ***: Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose ofPNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.

关键词： PNPLA4 Copy number variations X-chromosome Heterotaxy Congenital heart diseases

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Enhancing metformin-induced tumor metabolism destruction by glucose oxidase for triple-combination therapy

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Journal of Pharmaceutical Analysis 2024年第3期14卷 321-334页

作者： Rangrang Fan Linrui Cai Hao Liu Hongxu Chen Caili Chen Gang Guo Jianguo Xu Department of Neurosurgery and institute of Neurosurgery Cancer Center and State Key Laboratory of BiotherapyWest China HospitalSichuan UniversityChengdu610041China NMPA Key Laboratory for Technical research on Drug Products in Vitro and in Vivo Correlation Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOENational Drug Clinical-Trial InstitutionWest China Second HospitalSichuan UniversityChengdu610041China Department of Immunology School of Basic Medical SciencesXinxiang Medical UniversityXinxiangHenan453000China

Despite decades of laboratory and clinical trials,breast cancer remains the main cause of cancer-related disease burden in *** the metabolism destruction effect of metformin(Met)and cancer cell starvation induced by glucose oxidase(GOx),after their efficient delivery to tumor sites,GOx and Met may consume a large amount of glucose and produce sufficient hydrogen peroxide in ***,a pH-responsive epigallocatechin gallate(EGCG)-conjugated low-molecular-weight chitosan(LC-EGCG,LE)nanoparticle(Met–GOx/Fe@LE NPs)was *** coordination between iron ions(Fe3+)and EGCG in this nanoplatform can enhance the efficacy of chemodynamic therapy via the Fenton ***–GOx/Fe@LE NPs allow GOx to retain its enzymatic activity while simultaneously improving its ***,this pH-responsive nanoplatform presents controllable drug release *** in vivo biodistribution study showed that the intracranial accumulation of GOx delivered by this nanoplatform was 3.6-fold higher than that of the free *** in vivo anticancer results indicated that this metabolism destruction/starvation/chemodynamic triple-combination therapy could induce increased apoptosis/death of tumor cells and reduce their *** triple-combination therapy approach is promising for efficient and targeted cancer treatment.

关键词： Metformin Glucose oxidase Metabolism disruption Tumor starvation Combination cancer therapy

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Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family

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母胎医学杂志(英文) 2024年第3期6卷 131-133页

作者： Zhou Jia Xiong Hui Yang Jingmin Fu Xiaona Sun Luming Department of Fetal Medicine Shanghai First Maternity and Infant Hospital Tongji University Shanghai China Department of Neurology Beijing Children’s Hospital Capital Medical University National Center for Children’s Health Beijing China Key Laboratory of birth defects and Reproductive Health of National Health and Family Planning Commission (Chongqing Key Laboratory of birth defects and Reproductive Health Chongqing Population and Family Planning Science and Technology Research Institute) Chongqing China State Key Laboratory of Genetic Engineering and MOE Engineering research Center of Gene Technology School of Life Sciences Fudan University Shanghai China Shanghai WeHealth Biomedical Technology Co. Ltd Shanghai China

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Melatonin improves synapse development by PI3K/Akt signaling in a mouse model of autism spectrum disorder

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Neural Regeneration research 2024年第7期19卷 1618-1624页

作者： Luyi Wang Man Xu Yan Wang Feifei Wang Jing Deng Xiaoya Wang Yu Zhao Ailing Liao Feng Yang Shali Wang Yingbo Li institute of Neuroscience Department of PhysiologySchool of Basic Medical ScienceChongqing Medical UniversityChongqingChina Department of Pediatric Chongqing University Fuling HospitalChongqingChina Department of Neurosurgery Xinqiao HospitalArmy Medical UniversityChongqingChina Department of Pathology Affiliated Hospital of North Sichuan Medical CollegeNanchongSichuan ProvinceChina NHC Key Laboratory of birth defects and Reproductive Health Chongqing Population and Family Planning Science and Technology Research InstituteChongqingChina China National Clinical research Center for Neurological Diseases Beijing Tiantan HospitalCapital Medical UniversityBeijingChina Advanced Innovation Center for Human Brain Protection Capital Medical UniversityBeijingChina

Autism spectrum disorders are a group of neurodevelopmental disorders involving more than 1100 genes,including Ctnnd2 as a candidate ***2knockout mice,serving as an animal model of autis m,have been demonstrated to exhibit decreased density of dendritic *** role of melatonin,as a neuro hormone capable of effectively alleviating social interaction deficits and regulating the development of dendritic spines,in Ctnnd2 deletion-induced nerve injury remains unclea *** the present study,we discove red that the deletion of exon 2 of the Ctnnd2 gene was linked to social interaction deficits,spine loss,impaired inhibitory neurons,and suppressed phosphatidylinositol-3-kinase(PI3K)/protein kinase B(Akt) signal pathway in the prefrontal *** findings demonstrated that the long-term oral administration of melatonin for 28 days effectively alleviated the aforementioned abnormalities in Ctnnd2 gene-knockout ***,the administration of melatonin in the prefro ntal cortex was found to improve synaptic function and activate the PI3K/Akt signal pathway in this *** pharmacological blockade of the PI3K/Akt signal pathway with a PI3K/Akt inhibitor,wo rtmannin,and melatonin receptor antagonists,luzindole and 4-phenyl-2-propionamidotetralin,prevented the melatonin-induced enhancement of GABAergic synaptic *** findings suggest that melatonin treatment can ameliorate GABAe rgic synaptic function by activating the PI3K/Akt signal pathway,which may contribute to the improvement of dendritic spine abnormalities in autism spectrum disorders.

关键词： autism Ctnnd2 deletion GABAergic neurons melatonin PI3K/Akt signal pathway prefrontal cortex social behavior spine density synaptic-associated proteins

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Association of interpregnancy interval and risk of adverse pregnancy outcomes in woman by different previous gestational ages

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Chinese Medical Journal 2024年第1期137卷 87-96页

作者： Peiran Chen Yi Mu Zheng Liu Yanping Wang Xiaohong Li Li Dai Qi Li Mingrong Li Yanxia Xie Juan Liang Jun Zhu National Office for Maternal and Child Health Surveillance of China West China Second University HospitalSichuan UniversityChengduSichuan 610066China Department of Obstetrics West China Second University HospitalSichuan UniversityChengduSichuan 610066China Key Laboratory of birth defects and Related Diseases of Women and Children Ministry of EducationSichuan UniversityChengduSichuan 610066China

Background:With an increasing proportion of multiparas,proper interpregnancy intervals(IPIs)are urgently ***,the association between IPIs and adverse perinatal outcomes has always been *** study aimed to explore the association between IPIs and adverse outcomes in different fertility policy periods and for different previous gestational ***:We used individual data from China’s National Maternal Near Miss Surveillance System between 2014 and *** Poisson models with restricted cubic splines were *** adverse outcome was analyzed separately in the overall model and stratified *** stratified models included different categories of fertility policy periods(2014-2015,2016-2017,and 2018-2019)and infant gestational age in previous pregnancy(birth(OR[95%CI]:1.63[1.55,1.71]for vaginal delivery[VD]and 1.10[1.03,1.19]for cesarean section[CS]),low Apgar scores and small for gestational age(SGA),and a decreased risk of diabetes mellitus in pregnancy,preeclampsia or eclampsia,and gestational hypertension.A long IPI(≥60 months)was associated with an increased risk of preterm birth(OR[95%CI]:1.18[1.11,1.26]for VD and 1.39[1.32,1.47]for CS),placenta previa,postpartum hemorrhage,diabetes mellitus in pregnancy,preeclampsia or eclampsia,and gestational *** policy changes had little effect on the association of IPIs and adverse maternal and neonatal *** estimated risk of preterm birth,low Apgar scores,SGA,diabetes mellitus in pregnancy,and gestational hypertension was more profound among women with previous term births than among those with preterm births or pregnancy ***:For pregnant women with shorter or longer IPIs,more targeted health care measures during pregnancy should be formulated according to infant gestational age in

关键词： Interpregnancy interval Fertility policy Gestational age Preterm birth Gestational hypertension Diabetes mellitus in pregnancy

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Autophagy-targeting modulation to promote peripheral nerve regeneration

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Neural Regeneration research 2025年第7期20卷 1864-1882页

作者： Yan Chen Hongxia Deng Nannan Zhang Department of Obstetrics and Gynecology West China Second HospitalSichuan UniversityChengduSichuan ProvinceChina Key Laboratory of birth defects and Women and Children’s Diseases Ministry of EducationSichuan UniversityChengduSichuan ProvinceChina Laboratory of Reproductive Endocrinology and Reproductive Regulation Sichuan UniversityChengduSichuan ProvinceChina National Center for birth Defect Monitoring West China Second University HospitalSichuan UniversityChengduSichuan ProvinceChina

Nerve regeneration following traumatic peripheral nerve injuries and neuropathies is a complex process modulated by diverse factors and intricate molecular *** studies have focused on factors that stimulate axonal outgrowth and myelin ***,recent studies have highlighted the pivotal role of autophagy in peripheral nerve regeneration,particularly in the context of traumatic ***,autophagy-targeting modulation has emerged as a promising therapeutic approach to enhancing peripheral nerve *** current understanding suggests that activating autophagy facilitates the rapid clearance of damaged axons and myelin sheaths,thereby enhancing neuronal survival and mitigating injury-induced oxidative stress and *** actions collectively contribute to creating a favorable microenvironment for structural and functional nerve regeneration.A range of autophagyinducing drugs and interventions have demonstrated beneficial effects in alleviating peripheral neuropathy and promoting nerve regeneration in preclinical models of traumatic peripheral nerve *** review delves into the regulation of autophagy in cell types involved in peripheral nerve regeneration,summarizing the potential drugs and interventions that can be harnessed to promote this *** hope that our review will offer novel insights and perspectives on the exploitation of autophagy pathways in the treatment of peripheral nerve injuries and neuropathies.

关键词： autophagy autophagy related genes Charcot–Marie–Tooth diseases diabetic peripheral neuropathy metformin myelination peripheral nerve injury Schwann cells sciatic nerve Wallerian degeneration

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Colony-stimulating factor-1 receptor inhibition combined with paclitaxel exerts effective antitumor effects in the treatment of ovarian cancer

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Genes & Diseases 2024年第3期11卷 400-416页

作者： Meijia Yu Yiming Wu Qingfang Li Weiqi Hong Yang Yang Xiaoyi Hu Yanfei Yang Tianqi Lu Xia Zhao Xiawei Wei Laboratory of Aging research and Cancer Drug Target State Key Laboratory of Biotherapy and Cancer CenterNational Clinical Research Center for GeriatricsWest China HospitalSichuan UniversityChengduSichuan 610041China Department of Gynecology and Obstetrics Development and Related Disease of Women and Children Key Laboratory of Sichuan ProvinceKey Laboratory of Birth Defects and Related Diseases of Women and ChildrenMinistry of EducationWest China Second HospitalSichuan UniversityChengduSichuan 610041China Department of Obstetrics and Gynecology The First Affiliated HospitalArmy Medical UniversityChongqing 400038China

Ovarian cancer is the tumor with the highest mortality among gynecological *** have confirmed that paclitaxel chemoresistance is associated with increased infiltration of tumor-associated macrophages(TAMs)in the ***-stimu-lating factor 1(CSF-1)receptor(CSF-1R)plays a key role in regulating the number and differ-entiation of macrophages in certain solid *** are few reports on the effects of targeted inhibition of CSF-1R in combination with chemotherapy on ovarian cancer and the tu-mor ***,we explored the antitumor efficacy and possible mechanisms of the CSF-1R inhibitor pexidartinib(PLX3397)when combined with the first-line chemothera-peutic agent paclitaxel in the treatment of ovarian *** found that CSF-1R is highly ex-pressed in ovarian cancer cells and correlates with poor *** by PLX3397 in combination with paclitaxel significantly inhibited the growth of ovarian cancer both in vitro and in *** of CSF-1R altered the macrophage phenotype and reprogrammed the immunosuppressive cell population in the tumor microenvironment.

关键词： CSF-1R Ovariancancer Paclitaxel PLX3397 Targeted therapy Tumor-associated macrophages

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