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1.
Article in Chinese | WPRIM | ID: wpr-907709

ABSTRACT

Objective: Spinocerebellar ataxia type 2 (SCA2) is one of the most common autosomal dominant ataxias in the world. Several reports revealed that CAG repeats in some polyQ-containing genes may affect the age at onset (AAO) of patients with SCA2, however, little studies were conducted among Chinese patients with SCA2. Thus, the aim of this study is to evaluate the effect of CAG repeats on the AAO of patients with SCA2 in China.Methods:A total of 119 patients with SCA2 were enrolled and were divided into 2 groups according to their major phenotype:17 patients from 9 families with Parkinson ' s syndrome were grouped as the Parkinson ' s disease-SCA2 (PD-SAC2); 91 patients from 66 SCA2 families and 11 sporadic SCA2 patients were grouped as the ataxia-SCA2 (A-SCA2). Blood samples were obtained from the subjects, and the CAG repeat length in ATXN2 and other (CAG)n-containing genes was screened using fluorescent PCR. The Spearman ' s rank correlation between the CAG repeat length in (CAG)n-containing genes and AAO was analyzed. Regression analysis was performed to investigate whether the CAG repeat length could explain the variant of AAO. A t-test was used to compare the difference of CAG repeat length in (CAG)n-containing genes between the PD-SAC2 and A-SCA2 groups. Results:The CAG repeat length in the longer allele of ATXN2 was negatively correlated with AAO of SCA2 (R=?0.251, P<0.05), and the CAG repeat length could explain 41.7%of the variation of AAO. AAO negatively correlated with the CAG repeat length in the shorter allele of ATXN7 (R=?0.251, P=0.006) or in the longer allele of TBP gene (R=?0.197, P=0.034). A tendency of delay in the AAO was also observed in patients with SCA2 carrying the CAG repeat within the ATXN3, CACNA1A, ATXN7, TBP, and RAI1. In addition, we found that the CAG repeat length in ATXN7 and ATXN2 between the A-SCA2 and the PD-SCA2 groups was significantly different (both P<0.05).Conclusion:The CAG repeat in ATXN2 is a major genetic factor for the AAO of patients with SCA2 in China. The CAG repeat length in ATXN3, CACNA1A, ATXN7, TBP, and RAI1 genes might be a potential factor associated with the AAO of SCA2. The CAG repeat in ATXN7 might be a potential factor affecting the Parkinson??s syndrome in SCA2.

2.
Chinese Journal of Neurology ; (12): 296-302, 2021.
Article in Chinese | WPRIM | ID: wpr-885420

ABSTRACT

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of upper and lower motor neurons selectively. Although the motor system lesion is the most predominant clinical manifestation of ALS, with the progression of the understanding of the pathogenesis and clinical detection of the disease, more and more patients are found to have extra-motor features of ALS, such as somatosensory involvement, etc. The research results demonstrated that ALS might be a kind of disorder combined with sensory disturbance according to the electrophysiology, neuropathology, neuroimaging, animal model simulation, genetic evidence, and other methods detected. We, herein, review the prevalence and detection methods especially the aspect of genetic associations implicated in the sensory nerve disturbance of ALS.

3.
Article in English | WPRIM | ID: wpr-880642

ABSTRACT

Alzheimer's disease (AD) is the most common senile neurodegenerative disease characterized by progressive cognitive dysfunction, psychological and behavioral abnormalities, and impaired ability of activities of daily living. A family with a total of 3 patients were admitted to the Department of Neurology of Xiangya Hospital, Central South University in 2018. The proband showed memory decline as the presenting symptoms, and subsequently showed psychological and behavioral abnormalities, personality changes, seizures, and motor retardation. Definite diagnosis of early-onset familial AD (EOFAD) with missense mutation of presenilin 2 (PSEN2) (c.715A>G p.M239V) was established by whole exome sequencing (WES) technology. We reported the mutation in Chinese Han population for the first time, which expanded the mutation spectrum ofPSEN2 gene and aid to enrich the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations. Patients with early onset age and complex clinical manifestations of AD can be diagnosed with the help of genetic testing to avoid misdiagnosis.


Subject(s)
Activities of Daily Living , Alzheimer Disease/genetics , Humans , Mutation , Neurodegenerative Diseases , Presenilin-1/genetics , Presenilin-2/genetics
4.
Article in Chinese | WPRIM | ID: wpr-826460

ABSTRACT

Neurodegenerative diseases are a group of diseases characterized by chronic progressive damage to tissues of central nervous system and peripheral nervous system, which include Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, frontotemporal dementia, etc. The etiology is mainly related to factors such as aging, genetics and environment. More and more evidence indicate that mitochondrial dysfunction plays a vital role in the pathogenesis of neurodegenerative diseases. Variants of mitochondrial genes, including point variants, deletions, and copy number variations, have been recognized as important factors modulating genetic susceptibility to such diseases. This paper has reviewed recent studies for the influence of mitochondrial variants on the pathogenesis of neurodegenerative diseases, in order to provide clues for the pathogenesis, diagnosis and development of new drugs for such disorders.

5.
Article in Chinese | WPRIM | ID: wpr-825705

ABSTRACT

Objective To investigate the serum vitamin and trace element levels in children with short stature and their correlation with bone age. Methods Levels of serum VA and VD, and trace elements Ca, Fe, Zn, Mg, Cu, Pb and Cd were measured in 322 children who were referred for height consultation. Bone ages were evaluated and the correlation between bone age and serum vitamin and trace element levels was analyzed. Results The VA and VD deficiency rates of these 322 children were 22.05% and 34.16%, respectively. The deficiency rates of trace elements Ca, Fe and Zn were14.29%, 21.43% and 6.83%, respectively. The Pb excess rate was as high as 42.55%. The rates of bone age (BA) retardation in Group Ⅰ (short) and Group Ⅱ (slightly short) were 49.38% and 37.57%, respectively, which was significantly higher than that of Group Ⅲ (normal). The Ca level of BA retardation children was lower than that of the normal BA children in Group I. The VD level of BA retardation children was lower than that of the normal BA children in Group Ⅱ. BA was negatively correlated with VD, Ca, and Cu levels in children (r=-0.241; r=-0.136; r=-0.162), and positively correlated with Fe (r=0.286) . Conclusion There were significant abnormalities of vitamins and trace elements in short children. Children's bone age had a certain correlation with serum vitamin D, calcium, copper, and iron levels. Serum vitamin and trace element levels in children should be monitored to guide a reasonable diet to better promote child growth and development.

6.
Chinese Journal of Neurology ; (12): 855-860, 2020.
Article in Chinese | WPRIM | ID: wpr-870882

ABSTRACT

The 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease was held in Perth, Australia from December 4 to 6, 2019. This article mainly introduces the clinical research of this meeting, including epidemiology, non-motor symptoms, auxiliary examinations and biomarkers, etc., while the basic research includes genomics and genetics, protein metabolism abnormalities, neuroimmunity and inflammation, synapse pathology and preclinical treatment strategies,

7.
Article in Chinese | WPRIM | ID: wpr-866034

ABSTRACT

Based on the teaching advantages of "Internet +", we integrated the ATDE teaching model to explore the online teaching mode of neurology during the COVID-19 epidemic, and chose the ischemic cerebrovascular disease as a representative case of specific neurological diseases. The practical ATDE teaching in the teaching of neurology was elaborated by introducing, inspiring doubt, setting suspense, and raising questions, and leading students gradually to think deeply. Finally, the innovation and thinking of the online teaching of neurology brought by "Internet+ATDE" teaching model are discussed.

8.
Article in Chinese | WPRIM | ID: wpr-745908

ABSTRACT

The current status and major problems of doctors' working ability archives were investigated.The qualitative interview method was used to explore the establishment of doctors' working ability archives for secondary,tertiary hospitals and community health service centers,as well as for doctors of Chinese and Western medicine.The collection cycle of relevant data and measures to improve accuracy,application value and response were also explored.The aim of establishing the archives of doctors' working ability is to provide reference for evaluation of clinicians accurately,developing a rational incentive system,improving data support and upgrading hospital management level.

9.
Chinese Journal of Pediatrics ; (12): 844-851, 2019.
Article in Chinese | WPRIM | ID: wpr-800736

ABSTRACT

Objective@#To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy.@*Methods@#Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children′s Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ2 test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group.@*Results@#Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ2=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066).@*Conclusions@#The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.

10.
Article in Chinese | WPRIM | ID: wpr-711429

ABSTRACT

Objective To investigate the epidemiological characteristics of outpatients exposed to rabies and to analyze the post-exposure prophylaxis in Weinan City in 2017 in order to provide a scientific basis for the prevention of rabies. Methods Clinical data of all outpatients with exposure to rabies in Wei-nan were collected. Ecxcel 2007 was used for data entry and SPSS13. 0 for Chi-square test. Results A total of 32 094 cases were reported with an annual exposure rate of 625. 64/100 000 in Weinan in 2017. Animal bites mainly occurred in spring and summer,accounting for 47. 47% of the total cases in 2017. There were statistically differences in exposure rate among different age groups (χ2=15. 858,P=0. 003). Farmers ac-counted for the largest proportion of the outpatients exposed to rabies (52. 34% ). Among 31 435 outpatients, 28 181(89. 65% ) received wound care and rabies vaccination. The vaccination rate of rabies immunoglobu-lin for patients with gradeⅢ exposure was 46. 93%. Conclusion Comprehensive measures with focuses on compulsory vaccination for domestic dogs and adoption of stray dogs should be implemented to prevent human rabies. Meanwhile,health education rabieson prevention and control should also be strengthened.

11.
Article in Chinese | WPRIM | ID: wpr-688246

ABSTRACT

<p><b>OBJECTIVE</b>To determine the frequency of spinocerebellar ataxia type 31 (SCA31) related mutations among patients from mainland China.</p><p><b>METHODS</b>For a cohort of molecularly unassigned patients comprised of 295 SCA patients (including 98 probands from families featuring autosomal dominant SCA and 197 sporadic cases) and 81 patients with hereditary spastic paraplegia (HSP) (including 23 probands from families with autosomal dominant HSP and 58 sporadic cases),TGGAA pentanucleotide expansion insertional mutation of the BEAN/TK2 gene was detected using repeat-primed PCR followed by capillary gel electrophoresis.</p><p><b>RESULTS</b>No TGGAA pentanucleotide insertion expansion in BEAN/TK2 gene was identified in the above cohort.</p><p><b>CONCLUSION</b>SCA31 is an extremely rare subtype of SCA and should not be included in routine genetic screening in mainland China.</p>

12.
Chinese Journal of Endemiology ; (12): 630-634, 2017.
Article in Chinese | WPRIM | ID: wpr-662731

ABSTRACT

Objective To define the effect of hypothyroidism on oxidative stress,p38 and c-Jun N-terminal kinases (JNK) mRNA expression in testicular mitochondria of male rats,and to explore the mechanism of hypothyroidism on reproduction.Methods According to body weight (240-270 g),30 male Wistar rats were divided into control group (C group,1 ml/kg normal saline by intragastric administration),low-dose group (L group,0.1 mg/kg propylthiouracil 1 ml/kg by intragastric administration) and high-dose group (H group,10.0 mg/kg propylthiouracil 1 ml/kg by intragastric administration),10 rats in each group,body mass was weighed once every 3 days.After 60 days,all rats were killed.The levels of thyroid hormones [total triiodothyronine (TT3),total thyroxine (TT4),and thyroid stimulating hormone (TSH)] were measured by radioimmunoassay.The activities of superoxide dismutase (SOD) and catalase (CAT) in the testicular mitochondria were determined with spectrophotometric assay.The mRNA expression levels of p38 and JNK in testicular mitochondria were detected by real-time quantitative PCR.Results The weights of H group in 30 and 60 days [(265.73 ± 5.10),(253.72 ± 5.09) g] were significantly decreased in comparison with those of C group [(344.62 ± 4.69),(395.33 ± 8.36) g] and L group [(333.66 ± 3.53),(386.08 ± 7.70) g,P <0.05].While,testis organ coefficient of H group [(1.20 ± 0.05) g/100 g] were significantly increased compared with those of L group [(0.93 ± 0.03) g/100 g] and C group [(0.88 ± 0.03) g/100 g,P < 0.05].The serum levels of TT3 [(0.39 ± 0.01) nmol/L] and TT4 [(15.47 ± 1.21) nmol/L] in H group were found to be significantly decreased compared with those of C group [(0.86 ± 0.07),(45.56 ± 1.52) nmol/L] and L group [(0.79 ± 0.06),(39.02 ± 1.33) nmol/L,P < 0.05];whereas the level of TSH [(0.65 ± 0.09) mU/L)] was increased in comparison with those of the C group [(0.18 ± 0.06) mU/L] and L group [(0.27 ± 0.05) mU/L,P < 0.05].In addition,the level of SOD in H group [(60.37 ± 3.14) U/mg prot] was decreased compared with that of C group [(75.18 ± 6.13) U/mg prot,P < 0.05];the level of CAT in H group [(1.46 ± 0.25) U/mg prot] and L group [(1.67 ± 0.39) U/mg prot] decreased significantly compared with that of C group [(3.79 ± 0.44) U/mg prot,P < 0.05].And compared with C (1.000 0 ± 0.000 0) and L (1.114 2 ± 0.124 1) groups,p38 mRNA expression in H group (1.387 4 ± 0.122 0) was significantly increased (P < 0.05).However,there was no significant change in JNK mRNA expression between groups (F =0.95,P > 0.05).Conclusion Hypothyroidism may induce oxidative stress of testicular mitochondria leading to the change of p38 cell signal path and then damage the reproductive system in male rats.

13.
Chinese Journal of Endemiology ; (12): 630-634, 2017.
Article in Chinese | WPRIM | ID: wpr-660623

ABSTRACT

Objective To define the effect of hypothyroidism on oxidative stress,p38 and c-Jun N-terminal kinases (JNK) mRNA expression in testicular mitochondria of male rats,and to explore the mechanism of hypothyroidism on reproduction.Methods According to body weight (240-270 g),30 male Wistar rats were divided into control group (C group,1 ml/kg normal saline by intragastric administration),low-dose group (L group,0.1 mg/kg propylthiouracil 1 ml/kg by intragastric administration) and high-dose group (H group,10.0 mg/kg propylthiouracil 1 ml/kg by intragastric administration),10 rats in each group,body mass was weighed once every 3 days.After 60 days,all rats were killed.The levels of thyroid hormones [total triiodothyronine (TT3),total thyroxine (TT4),and thyroid stimulating hormone (TSH)] were measured by radioimmunoassay.The activities of superoxide dismutase (SOD) and catalase (CAT) in the testicular mitochondria were determined with spectrophotometric assay.The mRNA expression levels of p38 and JNK in testicular mitochondria were detected by real-time quantitative PCR.Results The weights of H group in 30 and 60 days [(265.73 ± 5.10),(253.72 ± 5.09) g] were significantly decreased in comparison with those of C group [(344.62 ± 4.69),(395.33 ± 8.36) g] and L group [(333.66 ± 3.53),(386.08 ± 7.70) g,P <0.05].While,testis organ coefficient of H group [(1.20 ± 0.05) g/100 g] were significantly increased compared with those of L group [(0.93 ± 0.03) g/100 g] and C group [(0.88 ± 0.03) g/100 g,P < 0.05].The serum levels of TT3 [(0.39 ± 0.01) nmol/L] and TT4 [(15.47 ± 1.21) nmol/L] in H group were found to be significantly decreased compared with those of C group [(0.86 ± 0.07),(45.56 ± 1.52) nmol/L] and L group [(0.79 ± 0.06),(39.02 ± 1.33) nmol/L,P < 0.05];whereas the level of TSH [(0.65 ± 0.09) mU/L)] was increased in comparison with those of the C group [(0.18 ± 0.06) mU/L] and L group [(0.27 ± 0.05) mU/L,P < 0.05].In addition,the level of SOD in H group [(60.37 ± 3.14) U/mg prot] was decreased compared with that of C group [(75.18 ± 6.13) U/mg prot,P < 0.05];the level of CAT in H group [(1.46 ± 0.25) U/mg prot] and L group [(1.67 ± 0.39) U/mg prot] decreased significantly compared with that of C group [(3.79 ± 0.44) U/mg prot,P < 0.05].And compared with C (1.000 0 ± 0.000 0) and L (1.114 2 ± 0.124 1) groups,p38 mRNA expression in H group (1.387 4 ± 0.122 0) was significantly increased (P < 0.05).However,there was no significant change in JNK mRNA expression between groups (F =0.95,P > 0.05).Conclusion Hypothyroidism may induce oxidative stress of testicular mitochondria leading to the change of p38 cell signal path and then damage the reproductive system in male rats.

14.
Military Medical Sciences ; (12): 58-61, 2017.
Article in Chinese | WPRIM | ID: wpr-510408

ABSTRACT

Objective To prepare and characterize docetaxel incorporated phosphatidylcholine -sodium desoxycholate mixed micelles (DOX EPC/SDC MMs).Methods Docetaxel mixed micelles (DOX MMs) were prepared using the co-precipitation method .An optimized formulation was obtained by single factor method , which was used to study the effect of several factors on water solubility of DOX in MMs, including EPC/total(EPC+SDC)concentration, total(EPC+SDC) concentration, the pH and ionic strength of the hydrated solution .Then, the obtained DOX MMs were characterized by investigating particle size distribution and morphology , and by conducting dilute experiments to examin micelle stability . Results The EPC/total ( EPC+SDC) concentration ratio was 0.4.The total supplementary material concentration was 2.5%.Pure water was used to disperse the film .The drug loaded MMs had an average size of 18.56 nm and average zeta potential of -24.3 mV.A roundlike shape was observed under a transmission electron microscope ( TEM).Conclusion DOX EPC/SDC MMs, prepared by a simple and convenient method , can enhance water solubility , is physically compatible with injection solutions and is expected to become a new drug delivery system .

15.
Article in English | WPRIM | ID: wpr-101299

ABSTRACT

BACKGROUND/AIMS: This study aimed to verify the reliability of the alcoholic liver disease (ALD)/nonalcoholic fatty liver disease (NAFLD) index (ANI) for distinguishing ALD in patients with hepatic steatosis from NAFLD, and to investigate whether ANI combined with γ-glutamyl transferase (GGT) would enhance the accuracy of diagnosis in China. METHODS: A hundred thirty-nine cases of fatty liver disease (FLD) were divided into two groups of ALD and NAFLD. The ANI was calculated with an online calculator. All indicators and ANI values were analyzed using statistical methods. RESULTS: ANI was significantly higher in patients with ALD than in those with NAFLD (7.11 ± 5.77 vs. -3.09 ± 3.89, p 0.05). CONCLUSIONS: ANI can help distinguish ALD from NAFLD with high accuracy; when ANI was combined with GGT, its effectiveness improved further.


Subject(s)
Alcoholics , Aspartate Aminotransferases , China , Diagnosis , Diagnosis, Differential , Erythrocyte Indices , Fatty Liver , gamma-Glutamyltransferase , Humans , Liver Diseases, Alcoholic , ROC Curve , Sensitivity and Specificity , Transferases
16.
Article in Chinese | WPRIM | ID: wpr-494418

ABSTRACT

Objective To investigate the effect of fire needling on tumor marker CA-125 levels and endometrial antibody (EMAb) in endometriosis patients.Methods Eighty endometriosis patients were randomly allocated to a treatment group of 43 cases and a control group of 37 cases. The treatment group received fire needling and the control group took gestrinone capsules. CA-125 levels and EMAb were measured in the two groups before and after treatment.Results CA-125 levels and EMAb positive rate decreased significantly in the two groups after treatment compared with before (P0.05).Conclusion Fire needling has a good interference effect on CA-125 levels and EMAb in endometriosis patients.

17.
Article in Chinese | WPRIM | ID: wpr-491511

ABSTRACT

Objective This study aims to define the effects of hypothyroidism on c-fos and c-jun mRNA expression in rat testes to provide a theoretical basis for prevention and control of iodine deficiency disorders (IDD). Methods According to body weight (200 - 240 g), 20 Wistar male rats were divided into control group and hypothyroidism group (1 ml/100 g, 0.1% propylthiouracil by intragastric administration) by digital table. There were 10 male rats in each group and body weight was observed every 3 days. After 60 days, all rats were killed. The levels of thyroid hormones [total triiodothyronine (TT3), total thyroxine (TT4), and thyroid stimulating hormone (TSH)] were measured by radioimmunoassay. The mRNA expression levels of c-fos and c-jun in testes were detected by real-time quantitative PCR. Results Compared with control groups [(298.20 ± 12.15), (344.00 ± 13.73) g], the weights of hypothyroidism groups in 30 days [(239.00 ± 15.02) g] and in 60 days [(232.67 ± 17.86) g] were significant decreased (t=7.704, 11.380, all P<0.05). The levels of TT3 [(373.32 ± 101.31) ng/L] and TT4 [(4.00 ± 0.89) × 103 ng/L] in serum of hypothyroidism group were found to be significantly decreased, whereas the level of TSH [(5.77 ± 0.89) × 103 U/L] was increased in comparison with those of the control groups [(1 000.01 ± 273.53) ng/L, (44.33 ±7.84) × 103 ng/L, (1.87 ± 0.70) × 103 U/L, t = 5.262, 12.520, 8.413, all P< 0.05]. Compared with control group (1.00 ± 0.08, 1.01 ± 0.04), the c-fos and c-jun mRNA expression (0.67 ± 0.03, 0.75 ± 0.02) of hypothyroidism group was significant decreased (t = 12.382, 13.784, all P < 0.05). Conclusion Hypothyroidism may reduce mRNA expression levels of testicular c-fos and c-jun, and then damage the reproductive system in male rats.

18.
Article in Chinese | WPRIM | ID: wpr-288030

ABSTRACT

Transglutaminase (TG) is a kind of calcium-dependent enzymes. The TGase family found in rodents and human contains 9 types, including TG1-7, blood coagulation factor XIIIa and erythrocyte membrane protein 4.2, with the former 8 types possessing catalytic activity. TG catalyzes various conversion reactions of glutamine, including transamination, deamination and esterification, and participates in post-transcriptional modification of proteins such as cross-linking peptides glutamine residue and lysyl-residue, stabilizing protein structure and catalyzing formation of protein aggregates. TGase has been found to contribute to a variety of important physiological and pathological processes and play a role in the pathogenesis of multiple diseases. Notably, neurodegenerative diseases such as Huntington's disease, spinocerebellar ataxia, Alzheimer's disease and Parkinson's disease, have a close connection with TGase's role in the human body.


Subject(s)
Animals , Brain , Humans , Neurodegenerative Diseases , Genetics , Transglutaminases , Genetics , Metabolism
19.
Article in Chinese | WPRIM | ID: wpr-288000

ABSTRACT

SCARB2 (scavenger receptor class B, member 2) is a lysosomal membrane glucoprotein, which is encoded by SCARB2 gene. It takes vital parts in the physiological and pathological processes including the transportation of beta-glucocerebrosidase to the lysosome, infection of EV71 and load-induced cardiac myocyte hypertrophy. This article has reviewed the molecular structure and functions of SCARB2 gene and its protein, as well as their relationship with diseases.


Subject(s)
Hand, Foot and Mouth Disease , Genetics , Humans , Lysosome-Associated Membrane Glycoproteins , Chemistry , Genetics , Physiology , Myoclonic Epilepsies, Progressive , Genetics , Parkinson Disease , Genetics , Receptors, Scavenger , Chemistry , Genetics , Physiology
20.
Article in Chinese | WPRIM | ID: wpr-287966

ABSTRACT

Non-coding expansion spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases characterized by "CTA/CTG", "ATTCT", "TGGAA" expansion in non-coding region of the causative gene. Until now, 5 subtypes including SCA8, SCA10, SCA12, SCA31 and SCA36 have been mapped. Recently, the causative mutation for SCA36, namely intronic hexanucleotide GGCCTG expansion in NOP56 gene, has been identified in Japanese and Spanish pedigrees in succession. Compared with other subtypes of SCAs, there are certain distinctive characteristics for SCA36. The clinical and genetic features of SCA36 are reviewed in this paper.


Subject(s)
Base Sequence , Biomedical Research , Methods , Chromosome Mapping , Chromosomes, Human, Pair 20 , Genetics , DNA Repeat Expansion , Genetics , Genetic Predisposition to Disease , Genetics , Humans , Nuclear Proteins , Genetics , Oligonucleotides , Genetics , Spinocerebellar Ataxias , Genetics , Pathology
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