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1.
Protein & Cell ; (12): 26-46, 2022.
Article in English | WPRIM | ID: wpr-922494

ABSTRACT

In vitro studies have established the prevalent theory that the mitochondrial kinase PINK1 protects neurodegeneration by removing damaged mitochondria in Parkinson's disease (PD). However, difficulty in detecting endogenous PINK1 protein in rodent brains and cell lines has prevented the rigorous investigation of the in vivo role of PINK1. Here we report that PINK1 kinase form is selectively expressed in the human and monkey brains. CRISPR/Cas9-mediated deficiency of PINK1 causes similar neurodegeneration in the brains of fetal and adult monkeys as well as cultured monkey neurons without affecting mitochondrial protein expression and morphology. Importantly, PINK1 mutations in the primate brain and human cells reduce protein phosphorylation that is important for neuronal function and survival. Our findings suggest that PINK1 kinase activity rather than its mitochondrial function is essential for the neuronal survival in the primate brains and that its kinase dysfunction could be involved in the pathogenesis of PD.

2.
Chinese Journal of Neurology ; (12): 967-972, 2021.
Article in Chinese | WPRIM | ID: wpr-911823

ABSTRACT

TAF1 gene encodes TATA-box binding protein-associated factor-1, which serves as a scaffold for the assembly of the transcription factor ⅡD and participates in the transcription of many genes in eukaryotic cells. Human TAF1 possesses intrinsic protein kinase activity, histone acetyltransferase activity as well as ubiquitin-activating and conjugating activity, and these activities have been mapped to different domains. Currently, TAF1 has been identified as the causative gene of X-linked dystonia-parkinsonism and X-linked mental retardation. What′s more, a series of functional analysis have demonstrated the importance of TAF1 gene in cell cycle and cell growth, and its relationship with neurodevelopment and tumorigenesis has also been reported. This review summarizes the research progress of TAF1 including structure, phenotypes and biological function.

3.
Chinese Journal of Neurology ; (12): 552-558, 2020.
Article in Chinese | WPRIM | ID: wpr-870848

ABSTRACT

Myoclonus-dystonia syndrome (MDS) is a special type of dystonia-plus syndromes. It is an autosomal-dominant movement disorder syndrome characterized by myoclonus and dystonia and accompanied by certain mental symptoms. The disorder usually occurs in childhood. Myoclonus and dystonia are usually involved in upper limbs, trunk and neck. The main pathogenic gene of MDS is ε-sarcoglycan gene (SGCE). Up to date, the mechanism that how this gene leads to the disease is not clear. The continuous progress of MDS can cause disability and bring great pain to patients and their families. In recent years, significant progress has been made in the research of this disease. This article will systematically review the pathogenesis, clinical phenotype, genetics, diagnostic criteria, differential diagnosis and treatment of MDS.

4.
Chinese Journal of Neurology ; (12): 544-547, 2020.
Article in Chinese | WPRIM | ID: wpr-870841

ABSTRACT

Parkinson′s disease is a common degenerative disease of the central nerve system, mainly caused by the degeneration of dopaminergic neurons in the compact part of substantia nigra. Tremor is one of the most common symptoms of Parkinson′s disease. Part of patients changing posture position could cause the tremor suspended for a period of time, after that, the tremor appear again. This clinical phenomenon is characterized by the reproducibility of Parkinson′s disease tremor, called re-emergent tremor (RET). The cause of RET mechanism is still unclear and the relative researches are less. This review summarizes the possible mechanism, clinical features and significance of RET in Parkinson′s disease.

5.
Chinese Journal of Anesthesiology ; (12): 561-564, 2019.
Article in Chinese | WPRIM | ID: wpr-755604

ABSTRACT

Objective To evaluate the role of Toll-like receptor 4 (TLR4)-p38 mitogen-assoliated protein kinase (p38MAPK)-nuclear factor kappa B (NF-κB) signaling pathway in sevoflurane-induced decrease in cognitive function of aged rats.Methods Sixty SPF healthy male Sprague-Dawley rats,aged 20 months,weighing 550-750 g,were divided into 5 groups (n =12 each) using a random number table method:control group (C group),sevoflurane group (S group),TAK242 plus sevoflurane group (TS group),SB202190 plus sevoflurane group (SS group),and PDTC plus sevoflurane group (PS group).All the rats were intubated after anesthesia and connected to an animal ventilator.TAK242,SB202190 and PDTC 10 μl were injected into the lateral cerebral ventricle in TS,SS and PS groups,respectively,and normal saline containing the equal volume of DMSO was given in C and S groups.Starting from 10 min after lateral cerebral ventricle injection,4% sevoflurane was inhaled for 6 h via the tracheal tube,with the inhaled oxygen concentration 30% and oxygen flow rate 2 L/min.The mixture of air and oxygen was inhaled in C group.The learning and memory ability was assessed by Morris water maze test at 7 days after the end of sevoflurane anesthesia,and the escape latency and swimming distance were recorded.Animals were sacrificed after the end of Morris water maze test,and brains were removed and hippocampi were isolated for determination of neural apoptosis (by TUNEL),contents of tumor necrosis factor-alpha (TNF-α) and interleukin-1beta (IL-1β) in hippocampal tissues (by enzyme-linked immunosorbent assay),and expression of caspase-3,phosphorylated p38MAPK (p-p38MAPK),total p38MAPK (t-p38MAPK) and NF-κB in nucleus (by Western blot).The apoptosis rate and p-p38MAPK/t-p38MAPK ratio were calculated.Results Compared with C group,the escape latency and swimming distance were significantly prolonged at each time point,the apoptosis rate and contents of TNF-oα and IL-1β were increased,the expression of caspase-3,p-p38MAPK and NF-κB was up-regulated,and p-p38MAPK/t-p38MAPK ratio was increased in the other four groups (P<0.05).Compared with S group,the escape latency and swimming distance were significantly shortened at each time point,the apoptosis rate and contents of TNF-α and IL-1β were decreased,and the expression of caspase-3 was down-regulated in TS,SS and PS groups,the expression of NF-κB was significantly down-regulated in TS and SS groups,and the expression of p-p38MAPK was significantly down-regulated,and p-p38MAPK/t-p38MAPK ratio was decreased in TS group (P<0.05).Compared with TS group,the escape latency and swimming distance were significantly prolonged at each time point,the apoptosis rate and contents of TNF-α and IL-1β were increased,the expression of caspase-3 and p-p38MAPK was up-regulated,and p-p38MAPK/t-p38MAPK ratio was increased in SS and PS groups,and the expression of NF-κB was significantly up-regulated in PS group (P<0.05).The expression of NF-κB was significantly up-regulated in PS group when compared with SS group (P<0.05).Conclusion TLR4-p38MAPKNF-κB signaling pathway is involved in sevoflurane-induced decrease in cognitive function of aged rats.

6.
Chinese Journal of Anesthesiology ; (12): 498-502, 2019.
Article in Chinese | WPRIM | ID: wpr-755591

ABSTRACT

Objective To evaluate the role of mitochondrial ATP sensitive potassium ( mito-KATP ) channel in dexmedetomidine-induced inhibition of subarachnoid hemorrhage ( SAH )-caused programmed cell death ( PCD) in cardiomyocytes of rats. Methods On hundred and twenty clean-grade healthy male Sprague-Dawley rats, aged 9-10 weeks, weighing 350-400 g, were divided into 5 groups ( n=24 each) using a random number table method: sham operation group ( group Sham ) , SAH group, SAH plus dexmedetomidine group ( group SD) , 5-HD plus SAH and dexmedetomidine group ( group HSD) and 5-HD plus SAH group ( group HS) . The rats were subjected to SAH by intracranial vascular puncture after being anesthetized with pentobarbital sodium. Dexmedetomidine 5 μg∕kg was infused for 10 min via the jugular vein starting from the time point after intracranial vascular puncture, followed by a continuous infusion of 5μg·kg-1 ·h-1 for 1 h in SD and HSD groups. 5-HD 30 mg∕kg was intraperitoneally injected at 1 h before intracranial vascular puncture in HSD and HS groups. Blood samples were collected from the abdominal aor-ta at 24 h after intracranial vascular puncture for determination of serum cardiac troponin I ( cTnI) concen-trations. The animals were then sacrificed, and myocardial specimens were collected for determination of PCD rate ( by TUNEL) , reactive oxygen species ( ROS) activity ( by DCFH-DA assay) , and expression of cleaved caspase-3, cleaved caspase-1 and interleukin-1beta ( IL-1β) ( by Western blot) . Results Com-pared with group Sham, the serum concentrations of cTnI, PCD rate and ROS activity were significantly in-creased, and the expression of cleaved caspase-3, cleaved caspase-1 and IL-1βwas up-regulated in SAH, SD, HSD and HS groups ( P<0. 05) . Compared with group SAH, the serum concentrations of cTnI, PCD rate and ROS activity were significantly decreased, and the expression of cleaved caspase-3, cleaved caspase-1 and IL-1βwas down-regulated in group SD, and the serum concentrations of cTnI, PCD rate and ROS activity were significantly increased, and the expression of cleaved caspase-3, cleaved caspase-1 and IL-1βwas up-regulated in group HS ( P<0. 05) . Compared with group SD, the serum concentrations of cT-nI, PCD rate and ROS activity were significantly increased, and the expression of cleaved caspase-3, cleaved caspase-1 and IL-1β was up-regulated in group HSD ( P<0. 05) . Compared with group HSD, the serum concentrations of cTnI, PCD rate and ROS activity were significantly increased, and the expression of cleaved caspase-3, cleaved caspase-1 and IL-1βwas up-regulated in group HS ( P<0. 05) . Conclusion mito-KATP channel is involved in dexmedetomidine-induced inhibition of PCD in cardiomyocytes of rats with SAH.

7.
Chinese Journal of Neurology ; (12): 143-146, 2019.
Article in Chinese | WPRIM | ID: wpr-734906

ABSTRACT

Parkinson's disease (PD) is a common neurodegenerative disease characterized by bradykinesia,resting tremor,muscle rigidity,and abnormal gait posture.Ocular motor function test plays an important part in neurological examinations.It has been widely accepted that specific ocular motor patterns contribute to diagnosis of Parkinsonian syndrome including progressive supranuclear palsy and multiple system atrophy.However,recent studies have shown that patients of PD may also exhibit specific eye movement disorders,which will be helpful in the early diagnosis,evaluation and differential diagnosis of PD.In 2015,the Movement Disorder Society clinical diagnostic criteria for Parkinson's disease suggested that sustained staring evoked nystagmus could be used as an exclusive criterion for PD.The clinical features,detection methods and clinical significance of oculomotor dysfunction in PD are reviewed in this article.

8.
Journal of Chinese Physician ; (12): 35-37,41, 2018.
Article in Chinese | WPRIM | ID: wpr-705775

ABSTRACT

Objective o investigate the clinical characteristics and relevant risk factors of freezing gait in patients with Parkinson's disease (PD).Methods A total of 570 consecutive PD patients were registered basic information and evaluated by Unified Parkinson's Disease Rating Scale (UPDRS) and New Freezing of gait questionnaire (NFOG-Q).They were divided into the PD with freezing gait group (188 cases) and non-freezing gait group.Results UPDRS score in each part (UPDRS-Ⅰ,UPDRS-Ⅱ,UPDRS-Ⅲ,UPDRS-Ⅳ) and Hoehn & Yahr stage of the PD freezing gait group was significantly higher than that of the non frozen gait group (P < 0.05).Conclusions PD patients with frozen gait group experience more rapid PD progression than those without freezing of gait.The appearance of FOG is associated with the mental behavior and emotion,treatment complication,disease severity,and course of PD.

9.
Journal of Chinese Physician ; (12): 24-27, 2018.
Article in Chinese | WPRIM | ID: wpr-705772

ABSTRACT

Objective To investigate the prevalence of fatigue symptoms and investigate its related factors in patients with Parkinson's disease (PD).Methods The Parkinson's Fatigue Scale (PFS-16) was used to assess the fatigue status of 453 PD patients.These patients were divided into fatigue group (mean PFS-16≥3.3 defined as fatigue) and non-fatigue group.All of them completed the assessment of the relevant scale.Results Among 453 PD patients,there were 169 patients (37.3%) in fatigue group and 284 patients (62.7%) in non-fatigue group.Unified Parkinson's disease Rating Scale (UPDRS) and HoehnYahr (H-Y) staging in fatigue group were significantly higher than non-fatigue group (P <0.05).Motor symptoms,mental and emotional status and daily living ability are positively correlated with fatigue symptoms.Conclusions The motor symptoms and non-motor symptoms are more serious in PD patients with fatigue.The motor symptoms,mental and emotional status,daily living ability and Hoehn-Yahr (H-Y) stage are the main related factors of fatigue symptoms in PD patients.

10.
Journal of Chinese Physician ; (12): 12-15, 2018.
Article in Chinese | WPRIM | ID: wpr-705770

ABSTRACT

Objective To explore the correlated factors and clinical features of cognitive impariment in parkinson's disease (PD).Methods A total of 419 patients with PD were collected from Xiangya Hospital of Centre-South University during Mar 1st,2017 to Nov 30th,2017.The cognitive functions of patients were assessed with the Mini-Mental State Examination (MMSE),and the basic information and the motor symptoms of 419 PD patients were selected at the same time.The PD patients were classified into three groups according to the MMSE score:PD with no cognitive impairment (PD-NC),mild cognitive impairment in PD (PD-MCI),and Dementia in PD (PD-D).The data were analyzed by SPSS 20.0.Results There were 156 patients with PD-MCI (37.2%) and 64 patients with PD-D (15.3%).The difference of sex and disease duration among three groups were not statistically significant (P > 0.05).The significant difference was found among PD-D,PD-MCI,and PD-NC groups in age of onset,age,educational attainment,Unified Parkinson's disease Rating Scale (UPDRS)-Ⅱ score,UPDRS-Ⅲ score and Hoehn-Yahr stage (P < 0.05).There were significant differences among three groups in MMSE score and its items (P < 0.01).Logistics regression analysis found that the age of onset,educational attainment,and Hoehn-Yahr stage were the risk factors of cognitive impairment in PD patients (P < 0.05).Conclusions Cognitive impairment is common in PD patients,and it is relevant to the age of onset,educational attainment and the severity of illness of PD patients.

11.
Journal of Chinese Physician ; (12): 9-11, 2018.
Article in Chinese | WPRIM | ID: wpr-705769

ABSTRACT

Objective To investigate the change of body mass index (BMI) in Parkinson's disease (PD) and its association with disease severity.Methods SPSS 22.0 was used for data analysis of one hundred and sixty-eight PD patients and one hundred and fifteen healthy controls.Results BMI value was obviously declined in PD (P =0.001).Decrease of BMI in PD was associated with increase of disease duration (r =-0.270,P =0.001),total score of Unified Parkinson~ Disease Rating Scale (UPDRS) (r =-0.195,P =0.008),score of UPDRS part Ⅱ (r =-0.147,P =0.045),score of UPDRS part Ⅲ (r =-0.159,P =0.030),H-Y grading (r =-0.256,P =0.001),and mini-mental state examination (MMSE) (r =0.291,P =O.001).Conclusions BMI declines more obviously in PD patients than in healthy controls.PD Patients with longer disease duration and severe motor symptoms have a higher risk of BMI loss.

12.
Journal of Chinese Physician ; (12): 6-8, 2018.
Article in Chinese | WPRIM | ID: wpr-705768

ABSTRACT

Objective To investigate the clinical features of constipation in patients with Parkinson 's disease (PD) and explore the relationship between constipation and motor symptoms.Methods The data of 221 PD patients were collected.Patients were evaluated with following scales:Rome Ⅲ criteria for diagnosis of functional constipation,unified Parkinson's disease rating scale part Ⅲ (UPDRS Ⅲ),and simple mental status examination scale (MMSE).Results Among 221 PD patients,132 (59.7%) had constipation,and 48 (36.4%) experienced constipation before motor symptoms.Compared to those without constipation,PD patients with constipation had a higher UPDRS Ⅲ scores,posture/gait scores,and axis scores (P < O.05).The most common symptoms of PD patients with constipation were defecation straining (93.9%).Conclusions PD patients with constipation have severer motor symptoms than those without constipation.Defecation straining is the most common subtypes of PD patients with constipation.

13.
Journal of Chinese Physician ; (12): 1-5, 2018.
Article in Chinese | WPRIM | ID: wpr-705767

ABSTRACT

Parkinson's disease is a common neurodegenerative disease among elders.Except for the motor symptoms of Parkinson's disease,it usually accompanies with a number of non-motor symptoms,such as constipation,sleep disorder and depression,and also some other comorbidities,such as diabetes,coronary heart disease,osteoporosis,etc.Comorbidities of Parkinson's disease usually affect the life quality,disability and mortality of patients,and increase the risk of polypharmacy and poor prognosis.Therefore,management of comorbidities of Parkinson's disease is critical for individual treatment of Parkinson's disease.This review will analyze and discuss the common comorbidities of Parkinson's disease.

14.
The Journal of Clinical Anesthesiology ; (12): 1107-1111, 2017.
Article in Chinese | WPRIM | ID: wpr-669279

ABSTRACT

Objective To explore the effect of erythropoietin (EPO) attenuating apoptosis in old rat hippocampal neuronal cells exposed to sevoflurane and the role of toll like receptor 4.Methods Twenty months old SD rats,male,550-750 g,in accordance with the random number table,were divided into 3 groups (n =9):control group (group C),sevoflurane treatment (group S),and sevoflurane plus EPO treatment (group ES).The rats in group S and ES were subjected to inhale 4% sevoflurane for 6 h,but the rats in group C were inhaled air-oxygen only.The rats in group ES were injected with EPO into caudal vein at 24 h,48 h,and 72 h after sevoflurane exposure.The cognitive ability was assessed by Morris water maze test;the effects of hippocampal apoptosis were assessed by TUNEL assays;the expressions of TLR4 mRNA was measured by RT-PCR assay;mitochondrial membrane potential (MMP) was assessed by JC-1 fluorescence;the expressions of APP and Aβ were assessed by western blot.Results Compared with group C,there were significant increases of escape latency period,neuronal apoptosis,TLR4 mRNA,and APP and Aβ expression,but a decrease of MMP in group S (P<0.05).Compared with group S,there were significant decreases of escape latency period,neuronal apoptosis,TLR4 mRNA,and APP and Aβ expression,but a increase of MMP in group ES (P<0.05).Conclusion The attenuation of rat hippocampal neuronal apoptosis induced by EPO could be associated with inhibition of TLR4,improvement of MMP,as well as inhibition of APP and Aβ activity.

15.
Chinese Journal of Anesthesiology ; (12): 1507-1511, 2017.
Article in Chinese | WPRIM | ID: wpr-709676

ABSTRACT

Objective To evaluate the role of Toll-like receptor 4 (TLR4) signaling pathway in sevoflurane anesthesia-induced cognitive dysfunction in aged rats.Methods Twenty-seven SPF healthy male Sprague-Dawley rats,aged 20 months,weighing 550-750 g,were divided into 3 groups (n =9 each) using a random number table:control group (C group),sevoflurane anesthesia group (S group) and TLR4 antagonist plus sevoflurane anesthesia group (TS group).TLR4 monoclonal antibody 30 μl was injected into the lateral cerebral ventricle in group TS,and the equal volume of serum containing no antibody was injected into the lateral cerebral ventricle in C and S groups.At 10 min after completion of injection,S and TS groups inhaled the mixture of 4% sevoflurane and 30% oxygen for 6 h,and group C only inhaled the mixture of air and oxygen.Morris water maze test was performed at 24 h after the end of sevoflurane anesthesia.The animals were sacrificed after completion of Morris water maze test,brains were removed and hippocampi were isolated for determination of nerve cell apoptosis (using TUNEL) and expression of activated caspase-3 (using immunofluorescent staining).Nerve cell apoptosis rate was calculated.The expression of high-mobility group box 1 protein (HMGB1) mRNA in hippocampi was measured by Northern blot assay at 6 h after the end of sevoflurane anesthesia.The expression of amyloid precursor protein (APP) and amyloid beta protein (Aβ) in hippocampi was assessed by Western blot at 24 h after the end of sevoflurane anesthesia.Results Compared with C group,the escape latency was significantly prolonged,nerve cell apoptosis rate was increased,the expression of activated caspase-3,HMGB1 mRNA,APP and Aβ was up-regulated in group S,and nerve cell apoptosis rate was increased,the expression of activated caspase-3,HMGB1 mRNA,APP and Aβ was up-regulated (P<0.05),and no significant change was found in the escape latency in group TS (P>0.05).Compared with S group,the escape latency was significantly shortened,nerve cell apoptosis rate was decreased,and the expression of activated caspase-3,HMGB1 mRNA,APP and Aβ was down-regulated in group TS (P<0.05).Conclusion Activation of TLR4 signaling pathway is involved in the mechanism of sevoflurane anesthesia-induced cognitive dysfunction in aged rats.

16.
Chinese Journal of Medical Genetics ; (6): 767-771, 2017.
Article in Chinese | WPRIM | ID: wpr-344178

ABSTRACT

Essential tremor (ET) is one of the most common movement disorders. Its clinical manifestations not only include typical kinetic and/or postural tremors, but also other non-motor symptoms such as cognitive dysfunction, sleep disturbance, and dysosmia. The exact etiology and pathogenesis of ET is still unknown. Approximately 60% of ET patients have a family history, and genetic factor plays an important role in the onset of the disease. Researchers have so far identified 3 genetic loci (ETM 1-3) through family studies, and proposed additional causative genes such as FUS, HTRA2, TENM4, NOS3 and susceptibility genes such as LINGO, SLC1A2, and GABA. This review focuses on the progress made in genetic research on ET.


Subject(s)
Humans , Essential Tremor , Genetics , Genetic Predisposition to Disease , Genetic Research , High-Temperature Requirement A Serine Peptidase 2 , Genetics , Membrane Proteins , Genetics , Nerve Tissue Proteins , Genetics , RNA-Binding Protein FUS , Genetics
17.
Journal of Central South University(Medical Sciences) ; (12): 1285-1291, 2015.
Article in English | WPRIM | ID: wpr-815339

ABSTRACT

OBJECTIVE@#To investigate the effect of the L10P mutation on the cellular mitochondrial disfunction.@*METHODS@#Spectrophotometer, flow cytometry and electron microscope was utilized to examine cell viability, reactive oxygen species (ROS), mitochondrial transmembrane potential, complex I activity and mitochondrial morphous of the HEK293 monoclone cell lines, in which wild-type and L10P mutant DJ-1 protein are stably expressed.@*RESULTS@#Compared with the cell lines expressing empty vector, we found the ROS levels were elevated, the cell viability, mitochondrial transmembrane potential, complex I activity were reduced in the cells expressing L10P mutant DJ-1 protein (P<0.05). We also found mitochondria in these cells were swelling and some mitochondria were vacuolar degeneration. These phenomena were more obvious when rotenone was used. But in the cells expressing wild-type DJ-1, ROS levels were lower, the cell viability, mitochondrial transmembrane potential, and complex I activity were higher than other cell lines (P<0.05), especially under the induction of rotenone. These results suggested that L10P mutant DJ-1 protein probably lost the ability of anti-oxidative stress and affect the normal function of mitochondria.@*CONCLUSION@#The L10P DJ-1 mutation results in a toxic protein, which lacks the protective function of wild-type protein on mitochondria due to the decrease in the ability of anti-oxidative stress.


Subject(s)
Humans , Cell Survival , HEK293 Cells , Intracellular Signaling Peptides and Proteins , Genetics , Membrane Potential, Mitochondrial , Mitochondria , Pathology , Mutation , Oncogene Proteins , Genetics , Oxidative Stress , Protein Deglycase DJ-1 , Reactive Oxygen Species , Metabolism , Rotenone
18.
Journal of Central South University(Medical Sciences) ; (12): 825-828, 2015.
Article in English | WPRIM | ID: wpr-815263

ABSTRACT

OBJECTIVE@#To investigate whether the mutation of P387L in SLC18A2 gene is a cause for sporadic Parkinson's disease (PD) in Chinese Han population.
@*METHODS@#A total of 931 subjects (455 sporadic PD patients and 476 healthy controls) were enrolled in our study. SLC18A2 P387L was genotyped by matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF MS) and the results were verified by Sanger sequencing. Furthermore, a case-control study was used to investigate the relationship between the mutation and sporadic PD.
@*RESULTS@#There was no mutation in any of the 931 individuals.
@*CONCLUSION@#The P387L mutation in SLC18A2 gene is rare in Chinese Han population, and P387L might not be a cause for Chinese sporadic PD. However, the role of this mutation in PD needs to be further verified through replication studies with large number of subjects and different population.


Subject(s)
Humans , Asian People , Genetics , Case-Control Studies , China , Genotype , Mutation , Parkinson Disease , Genetics , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , Vesicular Monoamine Transport Proteins , Genetics
19.
Journal of Central South University(Medical Sciences) ; (12): 325-332, 2014.
Article in Chinese | WPRIM | ID: wpr-468163

ABSTRACT

Objective: To elucidate the role of A39S mutation of DJ-1 in the onset of Parkinson’s disease (PD) and identify genes for which expressions are abnormally regulated by A39S DJ-1 mutation. Methods: We established HEK293 cell lines which stably expressed empty vector, wild-type DJ-1 and A39S mutated DJ-1 respectively. DNA microarrays were used to identify genes for which expressions change in wild-type DJ-1 cells and A39S DJ-1 mutant cells. Results: Compared with the cell line expression empty vector, we identified 42 differentially regulated genes (including 14 up-regulated genes and 28 down-regulated genes) in the wild-type DJ-1 cells and 8 differentially regulated genes (including 6 up-regulated genes and 2 down-regulated genes) in the A39S DJ-1 mutant cells. Compared with the wild-type DJ-1 cells, only the expression of UGT2B7 gene was down-regulated in A39S DJ-1 mutant cells. hTese differentially regulated genes were mainly related to signal transduction, regulation of transcription, apoptosis and metabolism. Conclusion: A39S mutated DJ-1 may disturb the transcriptional activities of DJ-l and involve in the pathogenesis of PD.

20.
Journal of Central South University(Medical Sciences) ; (12): 1189-1192, 2012.
Article in English | WPRIM | ID: wpr-814611

ABSTRACT

OBJECTIVE@#To investigate the mutation of small sequence changes in microRNA-7 gene in Chinese patients with Parkinson's disease (PD).@*METHODS@#We analyzed miR-7 variants in 225 PD patients from Chinese Han group by DNA sequence.@*RESULTS@#None of the patients had miR-7 variants.@*CONCLUSION@#MiR-7 variation is not associated with PD in Chinese patients.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Base Sequence , China , Ethnology , MicroRNAs , Genetics , Molecular Sequence Data , Mutation , Parkinson Disease , Genetics
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