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Proteomics of serum exosomes identified fibulin-1 as a novel biomarker for mild cognitive impairment

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Neural Regeneration Research 2023年第3期18卷 587-593页

作者： Bo Chen Li Song Juan Yang Wei-Ying Zhou Yuan-Yuan Cheng Yu-Jie Lai College of Pharmacy Chongqing Medical UniversityChongqingChina Department of neurology the First Affiliated Hospital of Chongqing Medical UniversityChongqing Key Laboratory of Major Neurological and Mental DisordersChongqing Key Laboratory of NeurologyChongqingChina Department of neurology The Third Affiliated Hospital of Chongqing Medical UniversityChongqingChina

Mild cognitive impairment(MCI)is a prodrome of Alzheimer’s disease pathology.Cognitive impairment patients often have a delayed diagnosis because there are no early symptoms or conventional diagnostic methods.Exosomes play a vital role in cell-to-cell communications and can act as promising biomarkers in diagnosing diseases.This study was designed to identify serum exosomal candidate proteins that may play roles in diagnosing MCI.Mass spectrometry coupled with tandem mass tag approach-based non-targeted proteomics was used to show the differentially expressed proteins in exosomes between MCI patients and healthy controls,and these differential proteins were validated using immunoblot and enzyme-linked immunosorbent assays.Correlation of cognitive performance with the serum exosomal protein level was determined.Nanoparticle tracking analysis suggested that there was a higher serum exosome concentration and smaller exosome diameter in individuals with MCI compared with healthy controls.We identified 69 exosomal proteins that were differentially expressed between MCI patients and healthy controls using mass spectrometry analysis.Thirty-nine exosomal proteins were upregulated in MCI patients compared with those in control patients.Exosomal fibulin-1,with an area under the curve value of 0.81,may be a biomarker for an MCI diagnosis.The exosomal protein signature from MCI patients reflected the cell adhesion molecule category.In particular,higher exosomal fibulin-1 levels correlated with lower cognitive performance.Thus,this study revealed that exosomal fibulin-1 is a promising biomarker for diagnosing MCI.

关键词： Alzheimer’s disease biomarker diagnosis exosomes fibulin mass spectrometry mild cognitive impairment tandem mass tag cell adhesion molecule nanoparticle tracking analysis

Cerebral furin deficiency causes hydrocephalus in mice

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Genes & Diseases 2024年第3期11卷 438-451页

作者： Shiqi Xie Xiaoyong Xie Jing Tang Biao Luo Jian Chen Qixin Wen Jianrong Zhou Guojun Chen Nursing College Chongqing Medical UniversityChongqing 400016China Department of neurology The First Affiliated Hospital of Chongqing Medical UniversityChongqing Key Laboratory of Major Neurological and Mental DisordersChongqing Key Laboratory of NeurologyChongqing 400016China

Furin is a pro-protein convertase that moves between the trans-Golgi network and cell surface in the secretory pathway.We have previously reported that cerebral overexpres-sion of furin promotes cognitive functions in mice.Here,by generating the brain-specific furin conditional knockout(ckO)mice,we investigated the role of furin in brain development.We found that furin deficiency caused early death and growth retardation.Magnetic resonance im-aging showed severe hydrocephalus.In the brain of furin cko mice,impaired ciliogenesis and the derangement of microtubule structures appeared along with the down-regulated expres-sion of RAB28,a ciliary vesicle protein.In line with the widespread neuronal loss,ependymal cell layers were damaged.Further proteomics analysis revealed that cell adhesion molecules including astrocyte-enriched ITGB8 and BCAR1 were altered in furin cKO mice;and astrocyte overgrowth was accompanied by the reduced expression of sox9,indicating a disrupted differ-entiation into ependymal cells.Together,whereas alteration of RAB28 expression correlated with the role of vesicle trafficking in ciliogenesis,dysfunctional astrocytes might be involved in ependymal damage contributing to hydrocephalus in furin ckO mice.The structural and mo-lecular alterations provided a clue for further studying the potential mechanisms of furin.

关键词： Astrocyte Ciliogenesis Conditionalknockout Ependymal Furin Hydrocephalus Proteomics

Functional in vivo assessment of stem cell-secreted pro-oligodendroglial factors

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Neural Regeneration Research 2022年第10期17卷 2194-2196页

作者： Jessica Schira-Heinen Iria Samper Agrelo Veronica Estrada Patrick Küry Department of neurology Neuroregeneration LaboratoryMedical FacultyHeinrich-Heine-UniversityDüsseldorfGermany

The role of adult neural stem cells(NSCs)in demyelinating diseases of the central nervous system(CNS):Multipotent NSCs hold great potential for cell replacement in diseases and upon injury of the CNS.Originating from radial glial cells during nervous system development,adult NSCs are localized in the subgranular zone of the hippocampus and the subventricular zone(SVZ)of the lateral brain ventricles,the main neurogenic zones of the adult brain.Hippocampal precursor cells(type 1 cells)exhibiting properties of radial glial cells give rise to granule neurons through distinct intermediate precursor cells,and integrate into the hippocampal circuitry[reviewed by Kempermann et al.(2015)].Likewise,under physiological conditions,neuron generation by mouse SVZ-derived NSCs(also known as type B cells)is the predominant cell fate,which thereby results in large numbers of transient amplifying precursor cells(also known as type C cells)which in turn differentiate into neuroblasts(type A cells).These cells migrate along the rostral migratory stream into the olfactory bulb where they undergo maturation into local interneurons.The structure of the rodent SVZ differs from that of the human SVZ since the proliferative capacity is reduced,and migration of neuroblasts is a rare event in adult humans[reviewed by Lim and Alvarez-Buylla(2016)].

关键词： thereby migrate predominant

New insights into Wnt signaling alterations in amyotrophic lateral sclerosis: a potential therapeutic target?

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Neural Regeneration Research 2020年第9期15卷 1580-1589页

作者： Carlos González-Fernández Pau González Francisco Javier Rodríguez laboratory of Molecular neurology Hospital Nacional de Parapléjicos (HNP)

Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder characterized by upper and lower motor neuron degeneration, which leads to progressive paralysis of skeletal muscles and, ultimately, respiratory failure between 2–5 years after symptom onset. Unfortunately, currently accepted treatments for amyotrophic lateral sclerosis are extremely scarce and only provide modest benefit. As a consequence, a great effort is being done by the scientific community in order to achieve a better understanding of the different molecular and cellular processes that influence the progression and/or outcome of this neuropathological condition and, therefore, unravel new potential targets for therapeutic intervention. Interestingly, a growing number of experimental evidences have recently shown that, besides its well-known physiological roles in the developing and adult central nervous system, the Wnt family of proteins is involved in different neuropathologica conditions, including amyotrophic lateral sclerosis. These proteins are able to modulate, at least, three different signaling pathways, usually known as canonical(β-catenin dependent) and non-canonical(β-catenin independent) signaling pathways. In the present review, we aim to provide a general overview of the current knowledge that supports the relationship between the Wnt family of proteins and its associated signaling pathways and amyotrophic lateral sclerosis pathology, as well as their possible mechanisms of action. Altogether, the currently available knowledge suggests that Wnt signaling modulation might be a promising therapeutic approach to ameliorate the histopathological and functional deficits associated to amyotrophic lateral sclerosis, and thus improve the progression and outcome of this neuropathology.

关键词： ALS astrocytes Frizzled human microglia motor neuron neurodegeneration neuroinflammation spinal cord Wnt

Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation

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Chinese Medical Journal 2023年第17期136卷 2110-2112页

作者： Haoling Cheng Dianfu Chen Zhiying Wu Ning Wang Department of neurology First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China Department of neurology and Research Center of neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhouZhejiang 310000China Fujian Key laboratory of Molecular neurology Fujian Medical UniversityFuzhouFujian 350005China

To the Editor:Cockayne syndrome(CS;Mendelian Inheritance in Man#133540,216400)is a rare autosomal recessive neurodegenerative disorder described by Edward Cockayne in 1936.[1]The prevalence of CS is 2.7 per million live births,[2]and the disease is probably underdiagnosed.The major clinical features are progressive growth failure and microcephaly as well as other characteristics such as a“cachectic dwarfism”appearance with sunken eyes,cutaneous photosensitivity,mental retardation,demyelinating peripheral neuropathy,pigmentary retinopathy,cataracts,deafness,dental anomalies,and premature death.[1,3]There is considerable variation in the severity of the disorder,leading to classification into three main types.

关键词： dwarf analysis retardation

Neutrophil-to-lymphocyte ratio in sporadic amyotrophic lateral sclerosis

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Neural Regeneration Research 2022年第4期17卷 875-880页

作者： Qian-Qian Wei Yan-Bing Hou Ling-Yu Zhang Ru-Wei Ou Bei Cao Yong-Ping Chen Hui-Fang Shang Department of neurology Laboratory of Neurodegenerative DisordersWest China HospitalSichuan UniversityChengduSichuan ProvinceChina

The neutrophil-to-lymphocyte ratio(NLR)is considered a robust prognostic biomarker for predicting patient survival outcomes in many diseases.However,it remains unclear whether it can be used as a biomarker for amyotrophic lateral sclerosis(ALS).To correlate NLR with disease progression and survival in sporadic ALS,1030 patients with ALS between January 2012 and December 2018 were included in this study.These patients were assigned into three groups according to their NLR values:Group 1(NLR3,n=172[16.7%]).All patients were followed up until April 2020.Patients in Group 3 had a significantly older onset age,a lower score on the Revised ALS Functional Rating Scale,and rapidly progressing disease conditions.Furthermore,faster disease progression rates were associated with higher NLR values(odds ratio=1.211,95%confidence interval[CI]:1.090–1.346,P<0.001)after adjusting for other risk factors.Compared with Groups 1 and 2,the survival time in Group 3 was significantly shorter(log-rank P=0.002).The NLR value was considered an independent parameter for the prediction of survival in ALS patients after normalizing for all other potential parameters(hazard ratio[HR]=1.079,95%CI:1.016–1.146,P=0.014).The effects on ALS survival remained significant when adjusted for treatment(HR=1.074,95%CI:1.012–1.141,P_(trend)=0.019)or when considering the stratified NLR value(HR=1.115,95%CI:1.009–1.232,P_(trend)=0.033).Thus,the NLR may help to predict the rate of disease progression and survival in patients with sporadic ALS.The study was approved by the Institutional Ethics Committee of West China Hospital of Sichuan University,China(approval No.2015(236))on December 23,2015.

关键词： amyotrophic lateral sclerosis Cox analysis inflammation lymphocytes monocytes neutrophils prognosis survival rate

Oxidative stress factors in Parkinson's disease

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Neural Regeneration Research 2021年第7期16卷 1383-1391页

作者： Jolanta Dorszewska Marta Kowalska Michał Prendecki Thomas Piekut Joanna Kozłowska Wojciech Kozubski laboratory of Neurobiology Department of NeurologyPoznan University of Medical SciencesPoznanPoland Chair and Department of neurology Poznan University of Medical SciencesPoznanPoland

Parkinson's disease(PD) is the second most common cause of neurodegeneration.Over the last two decades, various hypotheses have been proposed to explain the etiology of PD.Among these is the oxidant-antioxidant theory, which asserts that local and systemic oxidative damage triggered by reactive oxygen species and other free radicals may promote dopaminergic neuron degeneration.Excessive reactive oxygen species formation, one of the underlying causes of pathology in the course of PD has been evidenced by various studies showing that oxidized macromolecules including lipids, proteins, and nucleic acids accumulate in brain tissues of PD patients.DNA oxidation may produce various lesions in the course of PD.Mutations incurred as a result of DNA oxidation may further enhance reactive oxygen species production in the brains of PD patients, exacerbating neuronal loss due to defects in the mitochondrial electron transport chain, antioxidant depletion, and exposure to toxic oxidized dopamine.The protein products of SNCA, PRKN, PINK1, DJ1, and LRRK2 genes are associated with disrupted oxidoreductive homeostasis in PD.SNCA is the first gene linked with familial PD and is currently known to be affected by six mutations correlated with the disorder: A53T, A30P, E46K, G51D, H50Q and A53E.PRKN encodes Parkin, an E3 ubiquitin ligase which mediates the proteasome degradation of redundant and disordered proteins such as glycosylated α-synuclein.Over 100 mutations have been found among the 12 exons of PRKN.PINK1, a mitochondrial kinase highly expressed in the brain, may undergo loss of function mutations which constitute approximately 1–8% of early onset PD cases.More than 50 PD-promoting mutations have been found in PINK1.Mutations in DJ-1, a neuroprotective protein, are a rare cause of early onset PD and constitute only 1% of cases.Around 20 mutations have been found in DJ1 among PD patients thus far.Mutations in the LRRK2 gene are the most common known cause of familial autosomal dominant PD and sporadic PD.Treatment of PD patie

关键词： genetic factors molecular parameters oxidative stress Parkinson's disease pharmacotherapy surgical therapies

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

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Chinese Medical Journal 2016年第21期129卷 2596-2602页

作者： Jia-Ze Tan Yuan Man Fei Xiao Department of neurology The First Affiliated Hospital of Chongqing Medical University Chongqing Key Laboratory of Neurology Chongqing 400016 China

Background：Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome （SCCMS）.Methods：Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results：The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C〉T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit （CHRNE） gene that causes a leucine-to-phenylalanine substitution at position 289 （L289F） was found.Conclusions：We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.

关键词： Acetylcholine Receptor Epsilon-subunit Gene Repetitive-compound Muscle Action Potential Repetitive NerveStimulation Slow-channel Congenital Myasthenie Syndrome

A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

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Chinese Medical Journal 2021年第22期134卷 2753-2755页

作者： Liang-Liang Qiu Xiao-Dan Lin Guo-Rong Xu Li-Li Wang Zhi-Xian Ye Feng Lin Hai-Zhu Chen Min-Ting Lin Nai-Qing Cai Ming Jin Liu-Qing Xu Wei Hu Ning Wang Zhi-Qiang Wang Department of neurology Institute of NeurologyThe First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China Fujian Key laboratory of Molecular neurology FuzhouFujian 350005China

To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-encoded DUX4 retrogene in skeletal muscle.[1]The core phenotype of FSHD is progressive muscle weakness in such body parts as the face,shoulder girdle,and upper limbs.Additionally,FSHD may affect the axial muscles and produce bent spine syndrome.Several studies have reported that FSHD2 is associated with causative variants in SMCHD1,[1,2]but to the best of our knowledge,no Chinese FSHD2 patient has been reported.In this report,we presented a Chinese FSHD2 family with D4Z4 hypomethylation and identified a novel start codon variant(c.1 A>G)in SMCHD1.This study was approved by the Ethics Committee for Medical Research of the First Affiliated Hospital of Fujian Medical University(No.2016[17]).Informed consent was obtained from each partici-pant and parent of the participant younger than 18 years of age.

关键词： dystrophy muscular younger