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The identification of AMZ2.as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa

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Asian Journal of Andrology 2024年第1期26卷 107-111页

作者： Liu Liu Jing Yang Wen-Jing Zhang Yi-Ling Zhou Gui-Jun Zhao Ya Huang Shu-Yan Tang Obstetrics and Gynecology Hospital Fudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200011China State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for genetics and Development Department of Computational BiologySchool of Life SciencesFudan UniversityShanghai 200436China Shanghai Towako Hospital Shanghai 200131China Shanghai Institute of medical genetics Shanghai Children's HospitalShanghai Jiao Tong UniversityShanghai 200040China

Teratozoospermia with cephalic defects is one of the most severe types of sperm defects known to *** several monogenic factors are linked to cephalic abnormalities,such as globozoospermia and macrozoospermia,the genetic cause of vacuolated spermatozoa remains inadequately ***,we analyzed whole-exome sequencing(WES)data for an individual from a consanguineous family with severely vacuolated *** analysis revealed a novel homozygous c.52.A>G(***174Ala)variant in the archaelysin family metallopeptidase 2.AMZ2.,a gene that encodes a zinc metalloprotease previously shown to be highly expressed in the testes and *** algorithms predicted this variant to be a damaging *** with an autosomal recessive mode of inheritance,this variant was inherited from heterozygous parental *** investigate the potential pathogenicity of the identified variant,we compared the AMZ2.expression in sperm cells from the patient with the AMZ2.variant and from a healthy *** analysis revealed that the homozygous missense variant in AMZ2.abolished AMZ2.expression in the *** findings reveal a candidate causative gene for vacuolated spermatozoa.

关键词： AMZ2 male infertility sperm quality teratozoospermia

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Bone-targeted lipoplex-loaded three-dimensional bioprinting bilayer scaffold enhanced bone regeneration

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Regenerative Biomaterials 2024年第4期3卷 138-148页

作者： Woo-Jin Kim Jeong-Hyun Ryu Ji Won Kim Ki-Tae Kim Hye-Rim Shin Heein Yoon Hyun-Mo Ryoo Young-Dan Cho department of Molecular genetics School of Dentistry and Dental Research InstituteSeoul National UniversitySeoul03080Republic of Korea department of Periodontology School of Dentistry and Dental Research InstituteSeoul National University and Seoul National University Dental HospitalSeoul03080Republic of Korea

Clinical bone-morphogenetic protein 2.BMP2.treatment for bone regeneration,often resulting in complications like soft tissue inflammation and ectopic ossification due to high dosages and non-specific delivery systems,necessitates research into improved biomaterials for better BMP2.stability and *** tackle this challenge,we introduced a groundbreaking bone-targeted,lipoplex-loaded,three-dimensional bioprinted bilayer scaffold,termed the polycaprolactone-bioink-nanoparticle(PBN)scaffold,aimed at boosting bone *** encapsulated BMP2.within the fibroin nanoparticle based lipoplex(Fibroplex)and functionalized it with DSS6 for bone tissue-specific targeting.3D printing technology enables customized,porous PCL scaffolds for bone healing and soft tissue growth,with a two-step bioprinting process creating a cellular lattice structure and a bioink grid using gelatin-alginate hydrogel and DSS6-Fibroplex,shown to support effective nutrient exchange and cell growth at specific pore *** PBN scaffold is predicted through in silico analysis to exhibit biased BMP2.release between bone and soft tissue,a finding validated by in vitro osteogenic differentiation *** PBN scaffold was evaluated for critical calvarial defects,focusing on sustained BMP2.delivery,prevention of soft tissue cell infiltration and controlled fiber membrane pore size in *** PBN scaffold demonstrated a more than eight times longer BMP2.release time than that of the collagen sponge,promoting osteogenic differentiation and bone regeneration in a calvarial defect *** findings suggest that the PBN scaffold enhanced the local concentration of BMP2.in bone defects through sustained release and improved the spatial arrangement of bone formation,thereby reducing the risk of heterotopic ossification.

关键词： 3D bioprinting bone-targeting lipoplex BMP2 bone regeneration

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Transcriptomic analysis reveals that NIBAN1 overexpression is associated with BRAF^(V600E)mutation and increases the aggressiveness of thyroid cancer

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Genes & Diseases 2024年第4期11卷 16-19页

作者： Paula Diana Thaise Nayane Ribeiro Carneiro Janete Maria Cerutti Reginaldo Massanobu Kuroshu Gianna Maria Griz Carvalheira Division of genetics Department of Morphology and GeneticsEscola Paulista de MedicinaUniversidade Federal de Sao PauloSao PauloRua Botucatu740Edificio Leitaoda Cunha1AndarSao PauloSP04023900Brazil Genetic Bases of Thyroid Tumors Laboratory Division of GeneticsDepartment of Morphology and GeneticsEscola Paulista de MedicinaUniversidade Federal de Sao PauloPedro de Toledo 66911AndarSao PauloSP 04039-032Brazil Institute of Science and Technology Universidade Federal de Sao PauloAv Cesare Mansueto Giulio Lattes1201Eugenio deMelloSaoJose dos CamposSP12247-014Brazil

NIBAN1 overexpression has been reported in a widerange of thyroid carcinoma subtypes,and in other cancers,while it is not expressed in thyroid benign lesions and normal thy-roid.1-3 However,the mechanism associated with its expression and prognostic value remains *** this study,six independent cohorts were enrolled,in which NIBAN1 expression was evaluated.A total of 583patients with thyroid tumors,32. patients with skin cancers,2.3 patients with colorectal carcinoma,and 189 patients with lung carcinoma were analyzed.

关键词： BRAF lesions BAN

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Drosophila X virus-like particles as delivery carriers for improved oral insecticidal efficacy of scorpion Androctonus australis peptide against the invasive fruit fly,Drosophila suzukii

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Insect Science 2024年第3期31卷 847-858页

作者： Qi Xue Luc Swevers Clauvis Nji Tizi Taning Faculty of Bioscience Engineering Department of Plants and CropsGhent UniversityGhentBelgium Insect Molecular genetics and Biotechnology Institute of Biosciences and ApplicationsNational Centre for Scientific Research"Demokritos"AthensGreece

Insect-specific neurotoxic peptides derived from the venoms of scorpions and spiders can cause acute paralysis and death when injected into insects,offering a promising insecticidal component for insect pest ***,effective delivery systems are required to help neurotoxic peptides pass through the gut barrier into the hemolymph,where they can ***,we investigated the potential of a novel nanocarrier,Drosophila X virus-like particle(DXV-VLP),for delivering a neurotoxin from the scorpion Androctonus australis Hector(AaIT)against the invasive pest fruit fly,Drosophila *** results show that the fusion proteins of DXV polyproteins with AalT peptide at their Ctermini could be sufficiently produced in Lepidoptera Hi5 cells in a soluble form using the recombinant baculovirus expression system,and could self-assemble into VLPs with similar particle morphology and size to authentic DXV *** addition,the AalT peptides displayed on DXV-VLPs retained their toxicity,as demonstrated in injection bioassays that resulted in severe mortality(72.)in adults after 72.*** fed to adults,mild mortality was observed in the group treated with DXV-AalT(38%),while no mortality occurred in the group treated with AaIT peptide,thus indicating the significant role of DXV-VLPs in delivering AalT ***,this proof-of-concept study demonstrates for the first time that VLPs can be exploited to enhance oral delivery of insect-specific neurotoxic peptides in the context of pest ***,it provides insights for further improvements and potentially the development of neurotoxin-based bioinsecticides and/or transgenic crops for insect pest control.

关键词： AalT Drosophila suzuki nanocarrier neurotoxic peptides pest control virus-like particle(VLP)

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Neuron-to-astrocyte proteostatic stress signaling in response to tau pathology

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Neural Regeneration Research 2024年第3期19卷 505-506页

作者： Kevin Llewelyn Batenburg Wiep Scheper Amsterdam UMC location Vrije Universiteit Amsterdam Department of Human GeneticsAmsterdam Neuroscience-NeurodegenerationAmsterdamThe Netherlands department of Functional Genomics Center for Neurogenomics and Cognitive ResearchVrije Universiteit AmsterdamAmsterdam Neuroscience-NeurodegenerationAmsterdamThe Netherlands

Maintenance of protein homeostasis or“proteostasis”is essential for the functioning and viability of *** is in particular the case for cells like neurons that cannot self-renew and acquire unique functional properties during their *** proteostatic stress responses are in place to protect cells from damage in case of proteostatic *** integrated stress response(ISR)is one of the key proteostatic stress responses in the cell(Costa-Mattioli and Walter,2.2.).The ISR is the downstream convergence point for the four stress-induced eIF2.kinases(EIF2.K1-4)that control stress-regulated protein translation via phosphorylation of the translation factor eIF2..ISR activation results in a transient reduction of global translation while it concomitantly enhances the translation of specific mRNAs,including that encoding the activating transcription factor 4(ATF4).Together,the translational control mediated by the ISR results in a temporary reduction of the overall protein load and the selectively increased expression of proteins that contribute to restoration of the proteostatic balance.

关键词： translation stress Together

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Identification of LRRC46 as a novel candidate gene for high myopia

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Science China(Life Sciences) 2024年第9期67卷 1941-1956页

作者： Lingxi Jiang Chao Dai Yao Wei Bo Zhao Qi Li Zhengzheng Wu Liang Zou Zimeng Ye Zhenglin Yang Lulin Huang Yi Shi Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Center for medical genetics Department of Laboratory MedicineSichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China department of Ophthalmology Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China Research Unit for Blindness Prevention of Chinese Academy of medical Sciences(2.19RU02.) Sichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalChengdu 610072China School of Food and Bioengineering Chengdu UniversityChengdu 610106China School of Medicine University of SydneySydney 2050Australia Jinfeng Laboratory Chongging 400000China

High myopia(HM)is the primary cause of blindness,with the microstructural organization and composition of collagenous fibers in the cornea and sclera playing a crucial role in the biomechanical behavior of these *** a previously reported myopic linkage region,MYP5(17q2.-2.),a potential candidate gene,LRRC46(c.C2.5T,p.Q79X),was identified in a large Han Chinese ***46 is expressed in various eye tissues in humans and mice,including the retina,cornea,and *** subsequent cell experiments,the mutation(c.C2.5T)decreased the expression of LRRC46 protein in human corneal epithelial cells(HCE-T).Further investigation revealed that Lrrc46^(-/-)mice(KO)exhibited a classical myopia *** thickness of the cornea and sclera in KO mice became thinner and more pronounced with age,the activity of limbal stem cells decreased,and microstructural changes were observed in the fibroblasts of the sclera and *** performed RNA-seq on scleral and corneal tissues of KO and normal control wild-type(WT)mice,which indicated a significant downregulation of the collagen synthesis-related pathway(extracellular matrix,ECM)in KO *** in vitro studies further indicated that LRRC46,a member of the important LRR protein family,primarily affected the formation of *** study suggested that LRRC46 is a novel candidate gene for HM,influencing collagen protein VⅢ(Col8a1)formation in the eye and gradually altering the biomechanical structure of the cornea and sclera,thereby promoting the occurrence and development of HM.

关键词： high myopia LRRC46 biomechanics collagen protein VⅢ

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Sleep as a window to understand and regulate Alzheimer's disease:emerging roles of thalamic reticular nucleus

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Neural Regeneration Research 2025年第6期20卷 1711-1712页

作者： Haoqi Sun Shiqian Shen Robert J.Thomas M.Brandon Westover Can Zhang department of Neurology Beth Israel Deaconess Medical CenterHarvard Medical SchoolBostonMAUSA Center for Translational Pain Research Department of AnesthesiaCritical Care and Pain MedicineMassachusetis General HospitalHarvard Medical SchoolBostonMAUSA Division of Pulmonary Critical Care and Sleep MedicineDepartment of MedicineBeth Israel Deaconess Medical CenterHarvard Medical SchoolBostonMAUSA genetics and Aging Research Unit McCance Center for Brain HealthMass General Institute for Neurodegenerative DiseaseDepartment of NeurologyMassachusetts General HospitalHarvard Medical SchoolBostonMAUSA

Introduction:Alzheimer 's disease(AD) is a common neurodegenerative disorder and the primary cause of dementia. Considerable evidence supports the “amyloid hypothesis,” stating that the pathogenesis of AD is primarily caused by the deposition of amyloid-β(Aβ), which drives tau phosphorylation, neuroinflammation, and neurodegeneration in the brain. The amyloid hypothesis is strengthened by the significant and moderate benefit of lecanemab, a humanized antibody through an anti-amyloid mechanism,showing slowed clinical decline(van Dyck et al.,2.2.). The recent positive results of anti-amyloid trials have brought back focus on the amyloid hypothesis through biochemical, genetic, and pharmacological approaches(Zhang, 2.2.).

关键词： Alzheimer inflammation hypothesis

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Compound heterozygous mutation of AFG3L2.causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Caoverload

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Science China Life Sciences 2024年

作者： Hongyu Li Qingwen Ma Yan Xue Linlin Cai Liwen Bao Lei Hong Yitao Zeng Shuzhen Huang Richard H.Finnell Fanyi Zeng Shanghai Institute of medical genetics Shanghai Children's Hospital Shanghai Jiao Tong University School of Medicine department of Histo-Embryology Genetics and Developmental Biology Shanghai Jiao Tong University School of Medicine NHC Key Laboratory of medical Embryogenesis and Developmental Molecular Biology Shanghai Key Laboratory of Embryo and Reproduction Engineering Center for Precision Environmental Health Baylor College of Medicine School of Pharmacy Macau University of Science and Technology

Autosomal recessive spinocerebellar ataxias（SCARs） are one of the most common neurodegenerative diseases characterized by progressive ataxia. Although SCARs are known to be caused by mutations in multiple genes, there are still many cases that go undiagnosed or are misdiagnosed. In this study, we presented a SCAR patient, and identified a probable novel pathogenic mutation（c.1A>G, p.M1V） in the AFG3L2.start codon. The proband's genotype included heterozygous mutations of the compound AFG3L2.p.[M1V]; [R632.]（c.[1A>G];[1894.C>T]）), which were inherited from the father（c.1A>G, p.M1V） and mother（c.1894C>T, p.R632.）. Functional studies performed on hiPSCs（human induced pluripotent stem cells） generated from the patients and HEK2.3T cells showed that the mutations impair mitochondrial function and the unbalanced expression of AFG3L2.mRNA and protein levels. Furthermore, this novel mutation resulted in the degradation of the protein and the reduction of the stability of the AFG3L2.protein, and MCU（mitochondrial calcium uniporter） complex mediated Ca2.overload.

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Senktide blocks aberrant RTN3 interactome to retard memory decline and tau pathology in social isolated Alzheimer’s disease mice

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Protein & Cell 2024年第4期15卷 261-284页

作者： He-Zhou Huang Wen-Qing Ai Na Wei Ling-Shuang Zhu Zhi-Qiang Liu Chao-Wen Zhou Man-Fei Deng Wen-Tao Zhang Jia-Chen Zhang Chun-Qing Yang Ya-Zhuo Hu Zhi-Tao Han Hong-Hong Zhang Jian-Jun Jia Jing Wang Fang-Fang Liu Ke Li Qi Xu Mei Yuan Hengye Man Ziyuan Guo Youming Lu Kai Shu Ling-Qiang Zhu Dan Liu department of Pathophysiology School of Basic MedicineTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China department of medical {2. School of Basic MedicineTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China department of Pathology The First Affiliated Hospital of Zhengzhou UniversityZhengzhou 450002China department of Pathology School of Basic MedicineZhengzhou UniversityZhengzhou 450002China The Second Affiliated Hospital Department of NeurologyHengyang Medical SchoolUniversity of South ChinaHengyang 421001China Beijing Key Laboratory of Aging and Geriatrics National Clinical Research Center for Geriatric DiseaseInstitute of GeriatricsChinese PLA General Hospital and Chinese PLA Medical AcademyBeijing 100853China department of Neurosurgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China department of Neurology Union HospitalHuazhong University of Science and TechnologyWuhan 430022China department of Biology Boston UniversityBostonMA 02215USA Center for Stem Cell and Organoid Medicine(CuSTOM) Division of Developmental BiologyCincinnati Children’s Hospital Medical CenterCincinnatiOH 45229USA

Sporadic or late-onset Alzheimer’s disease(LOAD)accounts for more than 95%of Alzheimer’s disease(AD)cases without any family *** genome-wide association studies have identified associated risk genes and loci for LOAD,numerous studies suggest that many adverse environmental factors,such as social isolation,are associated with an increased risk of ***,the underlying mechanisms of social isolation in AD progression remain *** the current study,we found that 7 days of social isolation could trigger pattern separation impairments and presynaptic abnormalities of the mossy fibre-CA3 circuit in AD *** also revealed that social isolation disrupted histone acetylation and resulted in the downregulation of 2.dentate gyrus(DG)-enriched miRNAs,which simultaneously target reticulon 3(RTN3),an endoplasmic reticulum protein that aggregates in presynaptic regions to disturb the formation of functional mossy fibre boutons(MFBs)by recruiting multiple mitochondrial and vesicle-related ***,the aggregation of RTN3 also recruits the PP2. B subunits to suppress PP2. activity and induce tau hyperphosphorylation,which,in turn,further elevates RTN3 and forms a vicious ***,using an artificial intelligence-assisted molecular docking approach,we determined that senktide,a selective agonist of neurokinin3 receptors(NK3R),could reduce the binding of RTN3 with its ***,application of senktide in vivo effectively restored DG circuit disorders in socially isolated AD *** together,our findings not only demonstrate the epigenetic regulatory mechanism underlying mossy fibre synaptic disorders orchestrated by social isolation and tau pathology but also reveal a novel potential therapeutic strategy for AD.

关键词： Alzheimer’s disease memory impairment synaptic disorder tau pathology

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Could hydrogen gas be produced using human cells?

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Clean Energy 2024年第4期8卷 34-39页

作者： Tunc Catal Istanbul Protein Research-Application and Innovation Center(PROMER) Uskudar University 34662 UskudarIstanbulTürkiye department of Molecular Biology and genetics Uskudar University 34662 UskudarIstanbulTürkiye

Although fossil fuels are widely used to meet energy needs,intensive research has been carried out in recent years on hydrogen production from renewable sources due to their decrease over time and environmental pollution *** cell technology is one of the promising current *** has been proven that various microorganisms produce energy through their natural metabolism,and that energy production is produced in biofuel cells by exoelectrogenic microorganisms that can transfer electrons to an electrode *** it has been stated that employing human cells to generate energy is feasible,it is unknown whether doing so would enable the production of *** the scope of this perspective article,the issue of hydrogen production in bioelectrolysis cells using human cells will be discussed for the first *** hydrogen production in bioelectrolysis cells using human cells is important in terms of contributing to hydrogen *** the scope of the article,promising human cell lines for hydrogen production are emphasized and hydrogen production potentials in bioelectrolysis cells using these cell lines are *** conclusion,some human cells can be used for hydrogen gas production in bioelectrolysis cells due to their bioelectrochemical and metabolic properties.

关键词： biofuel cells biotechnology hydrogen human cells

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