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Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation

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International Journal of Ophthalmology(English edition) 2012年第1期5卷 28-31页

作者： Lei Shu Yong-Ming zhang Xiao-Xiao Huang Chun-Yue Chen xian-ning zhang Hangzhou Red Cross Hospital Hangzhou 310003 Zhejiang Province China Department of Biochemistry and Genetics National Education Base for Basic Medical Sciences Institute of Cell Biology School of Medicine Zhejiang University Hangzhou 310058 Zhejiang Province China Department of Ophthalmology Xiangshan First People's Hospital Xiangshan County 315700 Zhejiang Province China Hangzhou No. 6 Hospital Hangzhou 310014 Zhejiang Province China

AIM: To investigate mitochondrial factors associated with Leber hereditary optic neuropathy (LHON) through complete sequencing and analysis of the mitochondrial genome of Chinese patients with this disease. METHODS: Two unrelated southern Chinese families with LHON and 10 matched healthy controls were recruited, and their entire mitochondrial DNA (mtDNA) was amplified and sequenced with the universal M13 primer. Then DNA sequence analysis and variation identification were performed by DNAssist and Chromas 2 software and compared with authoritative databases such as Mitomap. RESULTS: Mutational analysis of mtDNA in these two Chinese pedigrees revealed one common LHON-associated mutation, G11778A (Arg -> His), in the MT-ND4 gene. In addition, there were two secondary mutations in Pedigree 1: C34971 (Ala -> Val), and C3571T (Leu -> Phe) in the MT-ND1 gene, which have not been reported; and two secondary mutations occurred in Pedigree 2: A10398G (Thr -> Ala) in the MT-ND3 gene, and T14502C (Ile -> Val) in the MT-ND6 gene. Three polymorphisms, A73G, G94A and A263G in the mtDNA control region, were also found. CONCLUSION: Our study confirmed that the known MT-ND4* G11778A mutation is the most significant cause of LHON. The C3497T and C3571T mutations in Pedigree 1 were also both at hot-spots of MT-ND1; they may affect the respiratory chain in coordination with the primary mutation G11778A. In Pedigree 2, the two secondary mutations A10398G of MT-ND3 and T14502C of MT-ND6 may influence mitochondrial respiratory complex I, leading to the mitochondrial respiratory chain dysfunction which results in optic atrophy together with G11778A. Therefore, not only the common primary LHON mutation is responsible for the visual atrophy, but other secondary mtDNA mutations should also be considered when giving genetic counseling.

关键词： Leber hereditary optic neuropathy mitochondrial DNA mutation mitochondrial respiratory complex I

Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2009年第1期10卷 29-34页

作者： Yu-hua LIANG Xiao-ling CHEN Zhong-sheng YU Chun-yue CHEN Sheng BI Lian-gen MAO Bo-lin ZHOU xian-ning zhang Department of Bioscience Bengbu Medical College Bengbu 233000 China Department of Biochemistry and Genetics School of Medicine Zhejiang University Hangzhou 310058 China National Education Base for Basic Medical Sciences Zhejiang University Hangzhou 310058 China Children's Hospital School of Medicine Zhejiang University Hangzhou 310003 China

Spinal muscular atrophy （SMA） is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Three types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship： SMA1, SMA2, and SMA3. The survival of motor neuron （SMN） gene has been identified as an SMA determining gene, whereas the neuronal apoptosis inhibitory protein （NAlP） gene is considered to be a modifying factor of the severity of SMA. The main objective of this study was to analyze the deletion of SMN1 and NAIP genes in southern Chinese children with SMA. Here, polymerase chain reaction （PCR） combined with restriction fragment length polymorphism （RFLP） was performed to detect the deletion of both exon 7 and exon 8 of SMN1 and exon 5 of NAIP in 62 southern Chinese children with strongly suspected clinical symptoms of SMA. All the 32 SMA1 patients and 76% （13/17） of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of SMNI exon 7 along with 24% （4/17） of SMA2 patients. Eleven out of 32 （34%） SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NA1P deletion. The findings of homozygous deletions ofexon 7 and/or exon 8 ofSMN1 gene confirmed the diagnosis of SMA, and suggested that the deletion ofSMN1 exon 7 is a major cause of SMA in southern Chinese children, and that the NAIP gene may be a modifying factor for disease severity of SMAI. The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis of SMA.

关键词： Spinal muscular atrophy (SMA) Survival motor neuron (SMN) gene Neuronal apoptosis inhibitory protein (NAIP) gene Mutation

A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree

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International Journal of Ophthalmology(English edition) 2015年第6期8卷 1112-1117页

作者： Qin-Kang Lu Na Zhao Ya-Su Lv Wei-Kun Gong Hui-Yun Wang Qi-Hu Tong Xiao-Ming Lai Rong-Rong Liu Ming-Yan Fang Jian-Guo zhang Zhen-Fang Du xian-ning zhang Ophthalmology Center Yinzhou People's Hospital Yinzhou Hospital Affiliated to Medical School of Ningbo University Department of Cell Biology and Medical Genetics Research Center for Molecular Medicine Institute of Cell BiologyZhejiang University School of Medicine BGI-Shenzhen

AIMTo identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD).METHODSA southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES), coupling the Agilent whole-exome capture system to the Illumina HiSeq 2000 DNA sequencing platform was used to search the specific gene mutation in 3 affected family members and 1 unaffected member. After a suggested variant was found through the data analysis, the putative mutation was validated by Sanger DNA sequencing of samples from all available family *** results of both WES and Sanger sequencing revealed a novel nonsense mutation c.C766T (p.Q256X) within exon 5 of CRX gene which was pathogenic for adCORD in this family. The mutation could affect photoreceptor-specific gene expression with a dominant-negative effect and resulted in loss of the OTX tail, thus the mutant protein occupies the CRX-binding site in target promoters without establishing an interaction and, consequently, may block *** modes of Mendelian inheritance in CORD have been observed, and genetic heterogeneity is a hallmark of CORD. Therefore, conventional genetic diagnosis of CORD would be time-consuming and labor-intensive. Our study indicated the robustness and cost-effectiveness of WES in the genetic diagnosis of CORD.

关键词： cone-rod dystrophy autosomal dominant cone-rod dystrophy whole-exome sequencing Sanger sequencing CRX gene mutation

Coordinated Control Strategy of New Energy Power Generation System with Hybrid Energy Storage Unit

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Energy Engineering 2025年第1期122卷 167-184页

作者： Yun zhang ZifenHan Biao Tian ning Chen Yi Fan School of Mechano-Electronic Engineering Xidian UniversityXi’an710071China Electric Power Control Center State Grid Gansu Electric Power CompanyLanzhou730030China Electric Power Control Center State Grid Gansu Electric Power Company Zhangye Power Supply BranchZhangye734000China

The new energy power generation is becoming increasingly important in the power *** as photovoltaic power generation has become a research hotspot,however,due to the characteristics of light radiation changes,photovoltaic power generation is unstable and random,resulting in a low utilization rate and directly affecting the stability of the power *** solve this problem,this paper proposes a coordinated control strategy for a newenergy power generation system with a hybrid energy storage unit based on the lithium iron phosphate-supercapacitor hybrid energy storage ***,the variational mode decomposition algorithm is used to separate the high and low frequencies of the power signal,which is conducive to the rapid and accurate suppression of the power fluctuation of the energy storage ***,the fuzzy control algorithm is introduced to balance the power between energy *** this paper,the actual data is used for simulation,and the simulation results show that the strategy realizes the effective suppression of the bus voltage fluctuation and the accurate control of the internal state of the energy storage unit,effectively avoiding problems such as overshoot and over-discharge,and can significantly improve the stability of the photovoltaic power generation systemand the stability of the Direct Current *** is of great significance to promote the development of collaborative control technology for photovoltaic hybrid energy storage units.

关键词： Photovoltaic power suppression hybrid energy storage unit variationalmodal decomposition fuzzy control power distribution control

Müller cells are activated in response to retinal outer nuclear layer degeneration in rats subjected to simulated weightlessness conditions

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Neural Regeneration Research 2025年第7期20卷 2116-2128页

作者： Yuxue Mu ning zhang Dongyu Wei Guoqing Yang Lilingxuan Yao Xinyue Xu Yang Li Junhui Xue Zuoming zhang Tao Chen Aerospace Clinical Medical Center School of Aerospace MedicineAir Force Medical UniversityXi’anShaanxi ProvinceChina Department of Aviation Medicine Xijing HospitalAir Force Medical UniversityXi’anShaanxi ProvinceChina Department of Emergency Medicine Wuhan No.1 HospitalWuhanHubei ProvinceChina Third Regiment School of Basic MedicineAir Force Medical UniversityXi’anShaanxi ProvinceChina Fourth Regiment School of Basic MedicineAir Force Medical UniversityXi’anShaanxi ProvinceChina

A microgravity environment has been shown to cause ocular damage and affect visual acuity,but the underlying mechanisms remain ***,we established an animal model of weightlessness via tail suspension to examine the pathological changes and molecular mechanisms of retinal damage under *** 4 weeks of tail suspension,there were no notable alterations in retinal function and morphology,while after 8 weeks of tail suspension,significant reductions in retinal function were observed,and the outer nuclear layer was thinner,with abundant apoptotic *** investigate the mechanism underlying the degenerative changes that occurred in the outer nuclear layer of the retina,proteomics was used to analyze differentially expressed proteins in rat retinas after 8 weeks of tail *** results showed that the expression levels of fibroblast growth factor 2(also known as basic fibroblast growth factor)and glial fibrillary acidic protein,which are closely related to Müller cell activation,were significantly *** addition,Müller cell regeneration and Müller cell gliosis were observed after 4 and 8 weeks,respectively,of simulated *** findings indicate that Müller cells play an important regulatory role in retinal outer nuclear layer degeneration during weightlessness.

关键词： glial fibrous acidic protein gliosis Müller cells nerve growth factor neural differentiation neurodegeneration proteomic retinal degeneration retinal outer nuclear layer simulated weightlessness

Gradient‑Layered MXene/Hollow Lignin Nanospheres Architecture Design for Flexible and Stretchable Supercapacitors

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Nano-Micro Letters 2025年第2期17卷 447-462页

作者： Haonan zhang Cheng Hao Tongtong Fu Dian Yu Jane Howe Kaiwen Chen ning Yan Hao Ren Huamin Zhai Jiangsu Provincial Key Lab of Sustainable Pulp and Paper Technology and Biomass Materials NanJing Forestry UniversityNanjing 210037People’s Republic of China Department of Chemical Engineering and Applied Chemistry University of Toronto200 College StreetTorontoON M5S 3E5Canada Department of Materials Science and Engineering University of Toronto184 College StreetTorontoON M5S 3E4Canada College of Materials Science and Engineering Nanjing Forestry UniversityNanjing 210037People’s Republic of China

With the rapid development of flexible wearable electronics,the demand for stretchable energy storage devices has *** this work,a novel gradient-layered architecture was design based on single-pore hollow lignin nanospheres(HLNPs)-intercalated two-dimensional transition metal carbide(Ti_(3)C_(2)T_(x) MXene)for fabricating highly stretchable and durable *** depositing and inserting HLNPs in the MXene layers with a bottom-up decreasing gradient,a multilayered porous MXene structure with smooth ion channels was constructed by reducing the overstacking of MXene ***,the micro-chamber architecture of thin-walled lignin nanospheres effectively extended the contact area between lignin and MXene to improve ion and electron accessibility,thus better utilizing the pseudocapacitive property of *** these strategies effectively enhanced the capacitive performance of the *** addition,HLNPs,which acted as a protective phase for MXene layer,enhanced mechanical properties of the wrinkled stretchable electrodes by releasing stress through slip and deformation during the stretch-release cycling and greatly improved the structural integrity and capacitive stability of the *** electrodes and symmetric flexible all-solid-state supercapacitors capable of enduring 600%uniaxial tensile strain were developed with high specific capacitances of 1273 mF cm^(−2)(241 F g^(−1))and 514 mF cm^(−2)(95 F g^(−1)),***,their capacitances were well preserved after 1000 times of 600%stretch-release *** study showcased new possibilities of incorporating biobased lignin nanospheres in energy storage devices to fabricate stretchable devices leveraging synergies among various two-dimensional nanomaterials.

关键词： Hollow lignin nanospheres MXene Gradient-layered architecture Wrinkled electrodes Stretchable supercapacitors

Bioinspired Ultrasensitive Flexible Strain Sensors for Real‑Time Wireless Detection of Liquid Leakage

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Nano-Micro Letters 2025年第3期17卷 310-327页

作者： Weilong Zhou Yu Du Yingying Chen Congyuan zhang Xiaowei ning Heng Xie Ting Wu Jinlian Hu Jinping Qu Key Laboratory of Material Chemistry for Energy Conversion and Storage Ministry of EducationHubei Key Laboratory of Material Chemistry and Service Failure and Hubei Engineering Research Center for Biomaterials and Medical Protective MaterialsSchool of Chemistry and Chemical EngineeringHuazhong University of Science and TechnologyWuhan 430074People’s Republic of China School of Materials Science and Engineering Wuhan Institute of TechnologyWuhan 430205People’s Republic of China Department of Biomedical Engineering City University of Hong KongHong KongSAR 999077People’s Republic of China

Liquid leakage of pipeline networks not only results in considerableresource wastage but also leads to environmental pollution and ecological *** response to this global issue, a bioinspired superhydrophobic thermoplastic polyurethane/carbon nanotubes/graphene nanosheets flexible strain sensor (TCGS) hasbeen developed using a combination of micro-extrusion compression molding andsurface modification for real-time wireless detection of liquid leakage. The TCGSutilizes the synergistic effects of Archimedean spiral crack arrays and micropores,which are inspired by the remarkable sensory capabilities of scorpions. This designachieves a sensitivity of 218.13 at a strain of 2%, which is an increase of 4300%. Additionally, it demonstrates exceptional durability bywithstanding over 5000 usage cycles. The robust superhydrophobicity of the TCGS significantly enhances sensitivity and stability indetecting small-scale liquid leakage, enabling precise monitoring of liquid leakage across a wide range of sizes, velocities, and compositionswhile issuing prompt alerts. This provides critical early warnings for both industrial pipelines and potential liquid leakage scenariosin everyday life. The development and utilization of bioinspired ultrasensitive flexible strain sensors offer an innovative and effectivesolution for the early wireless detection of liquid leakage.

关键词： Thermoplastic polyurethane Bioinspired Cracks Liquid leakage Flexible strain sensor

An Unprecedented Efficiency with Approaching 21%Enabled by Additive‑Assisted Layer‑by‑Layer Processing in Organic Solar Cells

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Nano-Micro Letters 2025年第2期17卷 372-375页

作者： Shuai Xu Youdi zhang Yanna Sun Pei Cheng Zhaoyang Yao ning Li Long Ye Lijian Zuo Ke Gao Key Laboratory of Advanced Green Functional Materials College of ChemistryChangchun Normal UniversityChangchun 130032People’s Republic of China Shandong Provincial Key Laboratory for Science of Material Creation and Energy Conversion School of Chemistry and Chemical EngineeringShandong UniversityQingdao 266237People’s Republic of China College of Polymer Science and Engineering Sichuan UniversityChengdu 610065People’s Republic of China State Key Laboratory and Institute of Elemento‑Organic Chemistry Centre of Nanoscale Science and Technology and Key Laboratory of Functional Polymer MaterialsRenewable Energy Conversion and Storage Center(RECAST)College of ChemistryNankai UniversityTianjin 300071People’s Republic of China Institute of Polymer Optoelectronic Materials and Devices State Key Laboratory of Luminescent Materials and Devices South China University of TechnologyGuangzhou 510640People’s Republic of China Tianjin Key Laboratory of Molecular Optoelectronic Sciences School of Materials Science and EngineeringTianjin UniversityTianjin 300350People’s Republic of China State Key Laboratory of Silicon Materials MOE Key Laboratory of Macromolecular Synthesis and FunctionalizationDepartment of Polymer Science and EngineeringZhejiang UniversityHangzhou 310027People’s Republic of China

Recently published in Joule,Feng Liu and colleagues from Shanghai Jiaotong University reported a record-breaking 20.8%power conversion efficiency in organic solar cells(OSCs)with an interpenetrating fibril network active layer morphology,featuring a bulk p-in structure and proper vertical segregation achieved through additive-assisted layer-by-layer *** optimized hierarchical gradient fibrillar morphology and optical management synergistically facilitates exciton diffusion,reduces recombination losses,and enhances light capture *** approach not only offers a solution to achieving high-efficiency devices but also demonstrates the potential for commercial applications of OSCs.

关键词： Organic solar cells Additive-assisted layer-by-layer processing Three-dimensional fibril morphology Bulk p-i-n structure Optical management

Insights into spinal muscular atrophy from molecular biomarkers

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Neural Regeneration Research 2025年第7期20卷 1849-1863页

作者： Xiaodong Xing Xinzhu Liu xiandeng Li Mi Li xian Wu Xiaohui Huang Ajing Xu Yan Liu Jian zhang Department of Clinical Pharmacy Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghaiChina College of Pharmacy Chongqing Medical UniversityChongqingChina

Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle *** is one of the most common genetic causes of mortality among infants aged less than 2 *** research is currently receiving more attention,and new candidate biomarkers are constantly being *** review initially discusses the evaluation methods commonly used in clinical practice while briefly outlining their respective pros and *** also describe recent advancements in research and the clinical significance of molecular biomarkers for spinal muscular atrophy,which are classified as either specific or non-specific *** review provides new insights into the pathogenesis of spinal muscular atrophy,the mechanism of biomarkers in response to drug-modified therapies,the selection of biomarker candidates,and would promote the development of future ***,the successful utilization of biomarkers may facilitate the implementation of gene-targeting treatments for patients with spinal muscular atrophy.

关键词： biomarkers disease progression gene-targeting therapy neurofilaments Nusinersen spinal muscular atrophy(SMA) survival motor neuron therapeutic evaluation treatment outcomes