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Mental retardation,seizures and language delay caused by new SETD1B mutations:Three case reports

World Journal of Clinical Cases 2024年第2期12卷 383-391页

作者： Le Ding Li-Wan Wei Tai-Song Li Jing Chen department of neurology Children’s Hospital of Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina Chigene(Beijing)Translational medical Research Center Co.Ltd.Beijing 101111China

BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve *** in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language *** SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B *** individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were *** article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment *** the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had *** treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat *** exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(***1825trp),c.4120C>T(***1374*,593),c.14_15insC(***5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language *** the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of ***,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.

关键词： Neurodevelopmental disorder Seizure SETD1B gene Whole-exome sequencing New mutation Case report

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DDAH1 promotes neurogenesis and neural repair in cerebral ischemia

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Acta Pharmaceutica Sinica B 2024年第5期14卷 2097-2118页

作者： Qiming Gao Pinfei Ni Yilin Wang Peiyun Huo Xiaojie Zhang Sihan Wang Fuyao Xiao Yixuan Li Wei Feng Juntao Yuan Teng Zhang Qiang Li Boyu Fan Yuhao Kan Zhirui Li Yimiao Qi Junfei Xing Zhenghong Yang Haixiao Cheng Xinran Gao Xiaoyan Feng Ming Xue Yang Liu Yumin Luo Zhongbing Lu Yuming Zhao department of Pharmacology School of Basic Medical SciencesCapital Medical UniversityBeijing 100069China Cerebrovascular Diseases Research Institute and department of neurology Xuanwu Hospital of Capital Medical UniversityBeijing 100053China State Key Laboratory for Structural Chemistry of Unstable and Stable Species Institute of ChemistryChinese Academy of SciencesBeijing 100190China College of Life Science University of Chinese Academy of SciencesBeijing 100049China department of Laboratory Animal School of Basic Medical SciencesCapital Medical UniversityBeijing 100069China department of Physiology and Pathophysiology School of Basic Medical SciencesCapital Medical UniversityBeijing 100069China

Choline acetyltransferase(ChAT)-positive neurons in neural stem cell(NSC)niches can evoke adult neurogenesis(AN)and restore impaired brain function after injury,such as acute ischemic stroke(AIS).However,the relevant mechanism by which ChAT+neurons develop in NSC niches is poorly *** RNA-seq analysis revealed that dimethylarginine dimethylaminohydrolase 1(DDAH1),a hydrolase for asymmetric NG,NG-dimethylarginine(ADMA),regulated genes responsible for the synthesis and transportation of acetylcholine(ACh)(Chat,Slc5a7 and Slc18a3)after stroke *** dual-luciferase reporter assay further suggested that DDAH1 controlled the activity of ChAT,possibly through hypoxia-inducible factor 1α(HIF-1α).KC7F2,an inhibitor of HIF-1α,abolished DDAH1-induced ChAT expression and suppressed *** expected,DDAH1 was clinically elevated in the blood of AIS patients and was positively correlated with AIS *** comparing the results among Ddah1 general knockout(KO)mice,transgenic(TG)mice and wild-type(WT)mice,we discovered that DDAH1 upregulated the proliferation and neural differentiation of NSCs in the subgranular zone(SGZ)under ischemic *** a result,DDAH1 may promote cognitive and motor function recovery against stroke impairment,while these neuroprotective effects are dramatically suppressed by NSC conditional knockout of Ddah1 in mice.

关键词： DDAH1 Neurogenesis Neural repair ChAT HIF-1α ACh Stroke ADMA

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Imaging mass spectrometry:a molecular microscope for studying the role of lipids in Parkinson's disease

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Neural Regeneration Research 2024年第6期19卷 1179-1180页

作者： Vinata Vedam-Mai Jacob M.Samuel Boone M.Prentice department of neurology University of FloridaGainesvilleFLUSA department of Chemistry University of FloridaGainesvilleFLUSA

Parkinson's disease–A lipidopathy?The histopathological hallmark of Parkinson's disease(PD)and dementia with Lewy bodies are inclusions enriched inα-synuclein(α-syn),known as Lewy bodies,which are not only composed of proteins,but also a core of lipid *** has been thus far principally thought of as a“proteinopathy”caused by the misfolding of α-syn.

关键词： lipids species folding

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Combined effect of cortical superficial siderosis and cerebral microbleed on short-term and long-term outcomes after intracerebral haemorrhage

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Stroke & Vascular neurology 2024年第4期9卷 429-438,I0131-I0146页

作者： Yujia Jin Yu-hui Huang Yu-ping Chen Yao-dan Zhang Jiawen Li Kai-cheng Yang Xianghua Ye Lu-hang Jin Jian Wu Chang-zheng Yuan Feng Gao Lu-sha Tong neurology department The Second Affiliated Hospital of Zhejiang UniversitySchool of MedicineHangzhouChina School of Public Health Zhejiang UniversityHangzhouChina department of neurology Tiantai People's Hospital of Zhejiang ProvinceTaizhouChina

Background and purpose Cortical superficial siderosis(cSS)and cerebral microbleed(CMB)have distinct effects on intracerebral haemorrhage(ICH).We aim to investigate the combined effect of cSS and CMB on outcomes after *** Based on a single-centre stroke registry database,patients with spontaneous ICH who had CT scan within 48 hours after ictus and MRI subsequently were *** patients were divided into four groups(cSS-CMB−,cSS-CMB+,cSS+CMB−,cSS+CMB+)according to cSS and CMB on susceptibility-weighted image of *** outcomes were haematoma volume on admission and unfavourable outcome defined as modified Rankin Scale scores≥3 at 3 *** outcomes were all-cause death,recurrence of stroke and ICH during follow-up(median follow-up 2.0 years,IQR 1.0-3.0 years).Results A total of 673 patients were identified from 1044 patients with spontaneous ICH.131(19.5%)had cSS and 468(69.5%)had *** with cSS+CMB+had the highest rate of poor outcome at 3 months,as well as all-cause death,recurrent stroke and ICH during *** cSS−patients,CMB was associated with smaller haematoma(β−0.13;95%CI−0.22 to−0.03;p=0.009),but it still increased risks of recurrent ICH(OR 4.6;95%CI 1.3 to 15.6;p=0.015)and stroke(OR 2.0;95%CI 1.0 to 4.0;p=0.049).These effects of CMB became unremarkable in the context of cSS+.Conclusions Patients with different combinations of cSS and CMB have distinct patterns of short-term and long-term *** CMB is related to restrained haematoma,it does not improve long-term outcomes.

关键词： superficial cerebral effect

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In situ direct reprogramming of astrocytes to neurons via polypyrimidine tract-binding protein 1 knockdown in a mouse model of ischemic stroke

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Neural Regeneration Research 2024年第10期19卷 2240-2248页

作者： Meng Yuan Yao Tang Tianwen Huang Lining Ke En Huang Key Laboratory of Brain Aging and Neurodegenerative Diseases of Fujian Province Fujian Medical UniversityFuzhouFujian ProvinceChina department of Human Anatomy School of Basic Medical SciencesFujian Medical UniversityFuzhouFujian ProvinceChina Scientific Research Center School of Basic Medical SciencesFujian Medical UniversityFuzhouFujian ProvinceChina department of neurology Fujian Medical University Union HospitalFuzhouFujian ProvinceChina Fujian Key Laboratory of Vascular Aging Fujian Medical UniversityFuzhouFujian ProvinceChina

In situ direct reprogramming technology can directly convert endogenous glial cells into functional neurons in vivo for central nervous system repair. Polypyrimidine tract-binding protein 1(PTB) knockdown has been shown to reprogram astrocytes to functional neurons in situ. In this study, we used AAV-PHP.e B-GFAP-sh PTB to knockdown PTB in a mouse model of ischemic stroke induced by endothelin-1, and investigated the effects of GFAP-sh PTB-mediated direct reprogramming to neurons. Our results showed that in the mouse model of ischemic stroke, PTB knockdown effectively reprogrammed GFAP-positive cells to neurons in ischemic foci, restored neural tissue structure, reduced inflammatory response, and improved behavioral function. These findings validate the effectiveness of in situ transdifferentiation of astrocytes, and suggest that the approach may be a promising strategy for stroke treatment.

关键词： astrocyte in situ direct reprogramming ischemic stroke miR-30 based shRNA neuron polypyrimidine tract-binding protein 1 transdifferentiation

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Body composition and metabolic syndrome in patients with type 1 diabetes

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World Journal of Diabetes 2024年第1期15卷 81-91页

作者： Qiong Zeng Xiao-Jing Chen Yi-Ting He Ze-Ming Ma Yi-Xi Wu Kun Lin department of neurology The First Affiliated Hospital of Shantou University Medical CollegeShantou 515041Guangdong ProvinceChina medical College Shantou University Medical CollegeShantou 515041Guangdong ProvinceChina department of Endocrinology The First Affiliated Hospital of Shantou University Medical CollegeShantou 515041Guangdong ProvinceChina

BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually *** resistance in T1DM deserves *** is necessary to clarify the relationship between body composition,metabolic syndrome and insulin resistance in T1DM to guide clinical treatment and *** To assess body composition(BC)in T1DM patients and evaluate the relationship between BC,metabolic syndrome(MS),and insulin resistance in these *** A total of 101 subjects with T1DM,aged 10 years or older,and with a disease duration of over 1 year were *** impedance analysis using the Tsinghua-Tongfang BC Analyzer BCA-1B was employed to measure various BC *** and laboratory data were collected,and insulin resistance was calculated using the estimated glucose disposal rate(eGDR).RESULTS MS was diagnosed in 16/101 patients(15.84%),overweight in 16/101 patients(15.84%),obesity in 4/101(3.96%),hypertension in 34/101(33.66%%)and dyslip-idemia in 16/101 patients(15.84%).Visceral fat index(VFI)and trunk fat mass were significantly and negatively correlated with eGDR(both P<0.001).Female patients exhibited higher body fat percentage and visceral fat ratio compared to male *** logistic regression analysis revealed that significant factors for MS included eGDR[P=0.017,odds ratio(OR)=0.109],VFI(P=0.030,OR=3.529),and a family history of diabetes(P=0.004,OR=0.228).Significant factors for hypertension included eGDR(P<0.001,OR=0.488)and skeletal muscle mass(P=0.003,OR=1.111).Significant factors for dyslipidemia included trunk fat mass(P=0.033,OR=1.202)and eGDR(P=0.037,OR=0.708).CONCLUSION Visceral fat was found to be a superior predictor of MS compared to conventional measures such as body mass index and waist-to-hip ratio in Chinese individuals with *** analysis,specifically identifying visceral fat(trunk fat),may play an important role in identifying the increased risk of

关键词： Body composition Metabolic syndrome Insulin resistance Visceral fat Estimated glucose disposal rate

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Mitochondrial recruitment in myelin:an anchor for myelin dynamics and plasticity?

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Neural Regeneration Research 2024年第7期19卷 1401-1402页

作者： Jean-David M.Gothié Timothy E.Kennedy department of neurology and Neurosurgery Montreal Neurological InstituteMcGill UniversityMontrealQCCanada

Optimal propagation of neuronal electrical impulses depends on the insulation of axons by myelin,produced in the central nervous system by *** is an extension of the oligodendrocyte plasma membrane,which wraps around an axon to form a compact multi-layered *** is composed of a substantially higher proportion of lipids compared to other biological membranes and enriched in a small number of specialized proteins.

关键词： plasticity insulation dynamics

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Epileptic brain network mechanisms and neuroimaging techniques for the brain network

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Neural Regeneration Research 2024年第12期19卷 2637-2648页

作者： Yi Guo Zhonghua Lin Zhen Fan Xin Tian department of neurology Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan ProvinceChina Sichuan Provincial Center for Mental Health Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan ProvinceChina department of Geriatrics Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan ProvinceChina department of neurology Chongqing Key Laboratory of NeurologyThe First Affiliated Hospital of Chongqing Medical UniversityChongqingChina

Epilepsy can be defined as a dysfunction of the brain network,and each type of epilepsy involves different brain-network changes that are implicated diffe rently in the control and propagation of interictal or ictal *** more detailed information on brain network alterations can help us to further understand the mechanisms of epilepsy and pave the way for brain network-based precise therapeutic approaches in clinical *** increasing number of advanced neuroimaging techniques and electrophysiological techniques such as diffusion tensor imaging-based fiber tra ctography,diffusion kurtosis imaging-based fiber tractography,fiber ball imagingbased tra ctography,electroencephalography,functional magnetic resonance imaging,magnetoencephalography,positron emission tomography,molecular imaging,and functional ultrasound imaging have been extensively used to delineate epileptic *** this review,we summarize the relevant neuroimaging and neuroelectrophysiological techniques for assessing structural and functional brain networks in patients with epilepsy,and extensively analyze the imaging mechanisms,advantages,limitations,and clinical application ranges of each technique.A greater focus on emerging advanced technologies,new data analysis software,a combination of multiple techniques,and the construction of personalized virtual epilepsy models can provide a theoretical basis to better understand the brain network mechanisms of epilepsy and make surgical decisions.

关键词： electrophysiological techniques epilepsy functional brain network functional magnetic resonance imaging functional near-infrared spectroscopy machine leaning molecular imaging neuroimaging techniques structural brain network virtual epileptic models

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Pathological and Physiological High-frequency Oscillations on Electroencephalography in Patients with Epilepsy

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Neuroscience Bulletin 2024年第5期40卷 609-620页

作者： Hongyi Ye Cong Chen Shennan A.Weiss Shuang Wang department of neurology Epilepsy CenterSecond Affiliated HospitalSchool of MedicineZhejiang UniversityHangzhou310009China department of neurology State University of New York DownstateBrooklynNY11203USA department of Physiology and Pharmacology State University of New York DownstateBrooklynNY11203USA department of neurology New York City Health+Hospitals/Kings CountyBrooklynNY11203USA

High-frequency oscillations(HFOs)encompass ripples(80 Hz–200 Hz)and fast ripples(200 Hz–600 Hz),serving as a promising biomarker for localizing the epileptogenic zone in *** fast ripples are always pathological,while ripples may be physiological or *** physiological from pathological ripples is important not only for designating epileptogenic brain regions,but also for investigations that study ripples in the context of memory encoding,consolidation,and recall in patients with *** studies have sought to identify distinguishing features between pathological and physiological ripples over the past two *** and pathological ripples differ with respect to their spatial location,cellular mechanisms,morphology,and coupling with background electroencephalographic *** studies have demonstrated that differentiating between pathological and physiological ripples can improve surgical outcome *** this review,we summarize the characteristics,differences,and applications of pathological and physiological HFOs and discuss strategies for their clinical translation.

关键词： Ripples Epilepsy Memory Sleep Surgical outcome

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Dysregulated N6-methyladenosine modification in peripheral immune cells contributes to the pathogenesis of amyotrophic lateral sclerosis

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Frontiers of Medicine 2024年第2期18卷 285-302页

作者： Di He Xunzhe Yang Liyang Liu Dongchao Shen Qing Liu Mingsheng Liu Xue Zhang Liying Cui department of neurology Peking Union Medical College Hospital(PUMCH)Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing100730China medical Doctor Program Chinese Academy of Medical Science and Peking Union Medical CollegeBeijing100730China McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic MedicinePeking Union Medical CollegeBeijing100730China Neuroscience Center Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing100730China

Amyotrophic lateral sclerosis(ALS)is a progressive neurogenerative disorder with uncertain *** evidence implicates N6-methyladenosine(m6A)modification in ALS *** RNA immunoprecipitation sequencing(MeRIP-seq)and liquid chromatography–mass spectrometry were utilized for m6A profiling in peripheral immune cells and serum proteome analysis,respectively,in patients with ALS(n=16)and controls(n=6).The single-cell transcriptomic dataset(GSE174332)of primary motor cortex was further analyzed to illuminate the biological implications of differentially methylated genes and cell communication *** of peripheral immune cells revealed extensive RNA hypermethylation,highlighting candidate genes with differential m6A modification and expression,including C-X3-C motif chemokine receptor 1(CX3CR1).In RAW264.7 macrophages,disrupted CX3CR1 signaling affected chemotaxis,potentially influencing immune cell migration in *** proteome analysis demonstrated the role of dysregulated immune cell migration in *** type-specific expression variations of these genes in the central nervous system(CNS),particularly microglia,were *** communication between neurons and glial cells was selectively altered in ALS *** integrated approach underscores m6A dysregulation in immune cells as a potential ALS contributor.

关键词： amyotrophic lateral sclerosis N^(6)-methyladenosine epi-transcriptome proteome single cell RNA sequencing analysis CX3CR1

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