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1.
Chinese Journal of Medical Genetics ; (6): 558-562, 2023.
Article in Chinese | WPRIM | ID: wpr-981788

ABSTRACT

OBJECTIVE@#To explore the clinical feature and genetic variant of a child with autosomal recessive Charlevoix-Saguenay type spastic ataxia (ARSACS).@*METHODS@#Clinical data of a child who was admitted to the West China Second Hospital of Sichuan University on April 30, 2021 was collected. Whole exome sequencing (WES) was carried out for the child and his parents. Candidate variants were verified by Sanger sequencing and bioinformatic analysis based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#The child, a 3-year-and-3-month-old female, had a complain of "walking instability for over a year". Physical and laboratory examination revealed progressive and aggravated gait instability, increased muscle tone of the right limbs, peripheral neuropathy of the lower limbs, and thickening of retinal nerve fiber layer. The results of WES revealed that she has harbored a maternally derived heterozygous deletion of exons 1 to 10 of the SACS gene, in addition with a de novo heterozygous c.3328dupA variant in exon 10 of the SACS gene. Based on the ACMG guidelines, the exons 1-10 deletion was rated as likely pathogenic (PVS1+PM2_Supporting), and the c.3328dupA was rated as a pathogenic variant (PVS1_Strong+PS2+PM2_Supporting). Neither variant was recorded in the human population databases.@*CONCLUSION@#The c.3328dupA variant and the deletion of exons 1-10 of the SACS gene probably underlay the ARSACS in this patient.


Subject(s)
Female , Humans , Child, Preschool , Heat-Shock Proteins/genetics , Muscle Spasticity/genetics , Mutation , Spinocerebellar Ataxias/pathology
2.
Journal of Central South University(Medical Sciences) ; (12): 183-193, 2022.
Article in English | WPRIM | ID: wpr-929021

ABSTRACT

OBJECTIVES@#Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation and joint destruction. Both inflammatory response and oxidative stress contribute to the pathogenesis of RA. Oxidative damage can induce and aggravate the imbalance of immune inflammation and promote cell and tissue damage. In this study, the expression of long non-coding RNA (lncRNA) LINC00638 in peripheral blood of patients with RA damp-heat arthralgia syndrome was observed, and the correlation between LINC00638 and disease activity, immune inflammation and oxidative stress indicator was investigated. Subsequently, the mechanisms for LINC00638 in regulating the inflammatory response and oxidative stress in RA fibroblast-like synoviocyte (FLS) under the condition of overexpression and interference were further explored.@*METHODS@#In this study, 48 RA patients with damp-heat arthralgia syndrome and 27 normal healthy subjects, who came from Department of Rheumatology, First Affiliated Hospital of Anhui University of Chinese Medicine, were included; and they were divided into a RA group and a control group. The expression of LINC00638 in peripheral blood mononuclear cells (PBMC) from the subjects was detected by real-time PCR. Enzyme linked immunosorbent assay (ELISA) was used to detect serum interleukin (IL)-10, IL-17, tumor necrosis factor-α (TNF-α), malondialdehyde (MDA), heme oxygenase 1 (HO-1) and superoxide dismutase 2 (SOD2) expression. Spearman method was used to study the relationship between LINC00638 and erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor (RF), anti-cyclic citrullinated peptide antibody (anti-CCP), and to observe the relation between LINC00638 and the Disease Activity Score of 28 Joint (DAS28), Quantitative Score of Damp Heat Syndrome, Visual Analogue Scale (VAS), Self-rating Anxiety Scale (SAS) and Self-rating Depression Scale (SDS). RA-FLS was induced by RA-PBMC, and the RA in vitro cell experimental model was established. LINC00638 overexpression plasmid and small interfering RNA (siRNA) were constructed and transfected into RA-FLS. The cell experiments were divided into 4 groups: a pcDNA3. 1- control group, a pcDNA3.1-LINC00638 group, a siRNA-control group, and a siRNA-LINC00638 group. The transfection efficiency of overexpression plasmid and siRNA was detected by real-time PCR, the expression of TNF-α and IL-10 was detected by ELISA, and the expression of antioxidant proteins HO-1 and SOD2 was detected by immunofluorescence.@*RESULTS@#Compared with the control group, the expression of LINC00638 in the RA group was lower (P<0.01). The area under the curve (AUC) of the receiver operating characteristic (ROC) curve of LINC00638 was 0.9271. The DAS28 in RA group was 5.70 (5.40-6.50), the Quantitative Score of Damp-heat Syndrome was 20.0 (17.0-23.0), and the VAS score was 7.0 (6.3-8.0). Compared with the control group, the ESR, CRP, RF, anti-CCP, SAS and SDS scores in the RA group were significantly increased (all P<0.01). Spearman correlation analysis showed that: LINC00638 was negatively correlated with ESR (r=-0.532, P<0.01), CRP (r=-0.367, P<0.05), TNF-α (r=-0.375, P<0.01), MDA (r= -0.295, P<0.05), DAS28 (r=-0.450, P<0.01), and which was positively correlated with SOD2 (r=0.370, P<0.05). After the induction of RA-FLS, the expression level of LINC00638 was significantly decreased (P<0.01), indicating that the stimulation of PBMC could effectively reduce the expression of LINC00638 in RA-FLS, so the experimental model of RA-FLS-induced by PBMC was utilized. Compared with the pcDNA3.1-control group, the expressions of LINC00638, IL-10, SOD2, and HO-1 in the pcDNA3.1-LINC00638 group were significantly increased (all P<0.01), and the expression of TNF-α was decreased (P<0.01). Compared with siRNA-control group, LINC00638, IL-10, SOD2 and HO-1 in the siRNA-LINC00638 group were significantly decreased (all P<0.01), and TNF-α was significantly increased (P<0.01).@*CONCLUSIONS@#LINC00638 is down-regulated in the peripheral blood of RA patients with damp-heat arthralgia syndrome, which is correlated with disease activity, immune inflammation and oxidative stress. Overexpression of LINC00638 can down-regulate pro-inflammatory factors, up-regulate anti-inflammatory factors, and increase antioxidant enzyme activity, thereby improving inflammation and oxidative stress in RA. LINC00638 is the differential lncRNA obtained by the research group's previous high-throughput sequencing of the whole transcriptome of peripheral blood PBMCs in RA patients and validation of clinical samples. In order to deepen the molecular biology research of this gene, the microRNA and mRNA targeted by LINC00638 can be further studied from the perspective of competing endogenous RNAs.


Subject(s)
Humans , Anti-Citrullinated Protein Antibodies/metabolism , Antioxidants , Arthralgia/metabolism , Arthritis, Rheumatoid , C-Reactive Protein , Hot Temperature , Inflammation/genetics , Interleukin-10/metabolism , Leukocytes, Mononuclear , Oxidative Stress , RNA, Long Noncoding/metabolism , RNA, Small Interfering , Tumor Necrosis Factor-alpha/metabolism
3.
Chinese Journal of Medical Genetics ; (6): 1237-1240, 2021.
Article in Chinese | WPRIM | ID: wpr-922032

ABSTRACT

OBJECTIVE@#To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype.@*METHODS@#After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification.@*RESULTS@#A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously.@*CONCLUSION@#Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.


Subject(s)
Female , Humans , Cytoskeletal Proteins , Dwarfism , Genomics , Molecular Biology , Muscle Hypotonia , Mutation , Pedigree , Spine/abnormalities , Exome Sequencing
4.
Chinese Journal of Medical Genetics ; (6): 887-890, 2021.
Article in Chinese | WPRIM | ID: wpr-921963

ABSTRACT

OBJECTIVE@#To explore the clinical features and disease-causing variants of a pediatric patient with fatal encephalopathy caused by mitochondrial peroxidase division deficiency, to identify the possible genetic causes of the disease and provide a basis for clinical diagnosis.@*METHODS@#A child with fatal encephalopathy caused by mitochondrial peroxidase division deficiency in West China Second Hospital of Sichuan University was selected. The clinical manifestations, laboratory findings and disease-causing variant were analyzed.@*RESULTS@#The main clinical symptoms of the patient were fever, headache and vomiting, followed by drug refractory epilepsy and progressive disturbance of consciousness. MRI showed deepening of sulcus, dilatation of bilateral ventricles, and multiple patch-like abnormal signals in paraventricular white matter, semioval center and subcortical white matter of bilateral frontal lobe. Gene detection showed a heterozygous missense variant c.1207C>T(p.Arg403Cys) in DNM1L, according to the American College of Medical Genetics and Genomics classification standards and guidelines for genetic variants, this variant was predicted to be pathogenic(PS1+PS2+PM2+PP3). After treated with gamma globulin, glucocorticoid, "mitochondrial cocktail therapy" and anti-epilepsy drugs, the condition of the patient was getting better, seizure attacks reduced and consciousness level improved.@*CONCLUSION@#The c.1207C>T variant in DNM1L gene may be the disease-causing variant for the patient, and the result of genetic testing provides a basis for the clinical diagnosis in this case.


Subject(s)
Child , Humans , Drug Resistant Epilepsy , Dynamins , Genomics , Mitochondria , Mutation , Peroxidase , Seizures
5.
Environmental Health and Preventive Medicine ; : 77-77, 2020.
Article in English | WPRIM | ID: wpr-880313

ABSTRACT

BACKGROUND@#Decreased heart rate variability (HRV) is a predictor of autonomic system dysfunction, and is considered as a potential mechanism of increased risk of cardiovascular disease (CVD) induced by exposure to particulate matter less than 2.5 μm in diameter (PM@*METHODS@#An updated systematic review and meta-analysis of panel studies till November 1, 2019 was conducted to evaluate the acute effect of exposure to ambient PM@*RESULTS@#A total of 33 panel studies were included in our meta-analysis, with 16 studies conducted in North America, 12 studies in Asia, and 5 studies in Europe. The pooled results showed a 10 μg/m@*CONCLUSION@#Short-term exposure to PM


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Air Pollutants/analysis , Air Pollution/analysis , Heart Rate/drug effects , Particulate Matter/analysis
6.
Chinese Journal of Medical Genetics ; (6): 405-409, 2020.
Article in Chinese | WPRIM | ID: wpr-828314

ABSTRACT

OBJECTIVE@#To carry out genetic testing for 3 fetuses with abnormal prenatal screening.@*METHODS@#Fetal ultrasound, karyotype analysis, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization were performed.@*RESULTS@#Abnormalities of chromosome 22 were found with all 3 fetuses. Fetus 1 harbored a 7.1 Mb deletion in 22q13.2q13.33 region, which involved 54 OMIM genes including SHANK3 and FBLN1. Fetus 2 had a mosaicism karyotype, with 12% of cells harboring a 6.6 Mb deletion in 22q13.31q13.33, covering 48 OMIM genes such as SHANK3 and PPARA, and 5% of cells harboring a 26.1 Mb duplication in 22q11.1q13.2 involving 285 OMIM genes. Fetus 3 carried a tandem duplication of 1.7 Mb in 22q11.1q11.21, which involved 10 OMIM genes including CECR1, CECR2 and ATP6V1E1. No abnormality was found in the three couples by chromosomal karyotyping and SNP array analysis.@*CONCLUSION@#The severity of diseases caused by chromosome 22 abnormalities not only depends on the range of the deletion or duplication, but is also closely related to chromosome structure, gene dose and genetic environment. Combined ultrasonography and various genetic testing techniques in prenatal diagnosis can greatly increase the detection rate of genetic diseases with substantial phenotypic variation.


Subject(s)
Female , Humans , Pregnancy , Chromosome Aberrations , Chromosome Deletion , Chromosome Disorders , Diagnosis , Genetics , Chromosomes, Human, Pair 22 , Genetics , Fetus , Genetic Testing , In Situ Hybridization, Fluorescence , Karyotyping , Prenatal Diagnosis , Transcription Factors , Ultrasonography, Prenatal
7.
Chinese Journal of Medical Genetics ; (6): 1036-1038, 2020.
Article in Chinese | WPRIM | ID: wpr-827748

ABSTRACT

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with increased nuchal translucency (NT) and another fetus with non-invasive prenatal testing (NIPT) suggested reduced sex chromosomes by cytogenetic and molecular techniques.@*METHODS@#Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were applied for the diagnoses. Peripheral blood samples were also taken from their parents for chromosomal karyotyping and SNP-array analysis.@*RESULTS@#Both fetuses showed a 46,X,+mar/45,X karyotype. SNP-array has detected a 22.0 Mb duplication at Yp11.31q11.223 and a 3.9 Mb microdeletion at Yq11.223q11.23 in fetus 1, and a 16.9 Mb duplication at Yp11.31q11.221 and a 8.1 Mb deletion at Yq11.222q11.23 in fetus 2. The results were confirmed by FISH. The parents of both fetuses were normal by chromosomal karyotyping and SNP-array.@*CONCLUSION@#Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.

8.
Chinese Journal of Medical Genetics ; (6): 1172-1175, 2020.
Article in Chinese | WPRIM | ID: wpr-827717

ABSTRACT

OBJECTIVE@#To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect.@*METHODS@#Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromosomal copy number variations, and fluorescence in situ hybridization (FISH) was used to verify the result.@*RESULTS@#Fetal karyotype analysis showed an unknown chromosomal fragment in 21q21 region. SNP-array discovered a 7.5 Mb duplication in the 21q22.12q22.3 region. FISH confirmed that the unknown fragment was derived from a 21q22.12q22.3 duplication.@*CONCLUSION@#Combined use of karyotype analysis, SNP-array and FISH has clarified the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which has enabled more accurate prenatal diagnosis and genetic counseling.

9.
Chinese Journal of Biotechnology ; (12): 1650-1658, 2020.
Article in Chinese | WPRIM | ID: wpr-826812

ABSTRACT

Endophytic fungus is an important treasure trove for discovery of structurally unusual and biologically diverse compounds. A phytochemical investigation on a fungus Clonostachys rosea inhabits inner tissue of Blumea balsamifera (L.) DC. was initiatedrecently in our lab. Six pure compounds were isolated through silica gel column chromatography, sephadex LH-20, and semi-preparative HPLC techniques, with bio-guided strategy. Their structures were characterized as verticillin A (1), (S)-(+)-fusarinolic acid (2), 8-hydroxyfusaric acid (3), cerebroside C (4), 3-Maleimide-5-oxime (5), and bionectriol A (6) by analyses of NMR and MS data. All compounds were tested in vitro antibacterial activities against four strains of bacteria, Escherichia coli, Staphylococcus aureus, Bacillus subtilis and Pseudomonas aeruginosa, and results revealed that 1, 4 and 6 display notableinhibition againstthree bacteria, with MIC values ranging from 2 to 16 μg/mL. Our findings provide references for mining novel antibiotics from endophytes originated from Li Minority medicinal plant B. balsamifera (L.) DC.

10.
Chinese Journal of Primary Medicine and Pharmacy ; (12): 650-654, 2020.
Article in Chinese | WPRIM | ID: wpr-866316

ABSTRACT

Objective:To investigate the clinical effect of ethinylestradiol cycloproterone combined with metformin in the treatment of polycystic ovary syndrome (PCOS) with insulin resistance.Methods:Ninety PCOS patients with insulin resistance admitted to the First People's Hospital of Taizhou from May 2017 to May 2019 were selected in the study.According to the random number table method, the patients were divided into control group and treatment group, with 45 cases in each group.The control group was treated with ethinylestradiol and cycloprogesterone, while the observation group was treated with ethinylestradiol and cycloprogesterone combined with metformin.The clinical effects of two groups were compared, including estradiol (E 2), testosterone (T), luteinizing hormone (LH), follicle stimulating estrogen (FSH), insulin resistance index (HOMA-IR), fasting plasma glucose (FPG) before and after treatment.Body mass index (BMI) and fasting insulin (FINS) levels were measured.The ovulation, pregnancy, menstrual recovery and adverse reactions of the two groups were analyzed. Results:The total effective rate of the treatment group (97.77%) was significantly higher than that of the control group (77.77%), the difference was statistically significant (χ 2=8.389, P=0.003). Before treatment, there were no statistically significant differences in E 2, T, LH, FSH between the treatment group and the control group (all P>0.05). After treatment, the levels of E 2[(112.90±18.90)pmol/L], T[(1.30±0.78)nmol/L], LH[(8.00±1.50)U/L]and FSH[(1.20±0.39)U/L] in the treatment group were significantly lower than those in the control group[E 2(128.90±19.95) pmol/L, T(2.19±1.00) nmol/L, LH(11.65±1.60)U/L and FSH(1.89±0.50)U/L], the differences were statistically significant( t=3.905, 4.707, 10.871, 7.299, all P<0.05). Before treatment, the levels of HOMA-IR, FPG, BMI and FINS between the two groups had no statistically significant differences(all P>0.05). After treatment, the levels of HOMA-IR (2.19±0.50), FPG[(4.30±1.19)mmol/L], BMI[(22.40±1.89)kg/m 2], FINS[(15.98±5.00)mU/L] in the treatment group were significantly lower than those in the control group[HOMA-IR(3.90±0.58), FPG (6.09±1.20) mmol/L, BMI (24.69±4.60)kg/m 2, FINS (19.00±6.89)mU/L], the differences were statistically significant( t=14.979, 7.105, 3.089, 2.379, all P<0.05). The ovulation, pregnancy and menstrual recovery in the treatment group were significantly higher than those in the control group (χ 2=4.121, 4.285, 10.000, all P<0.05). The incidence of adverse reactions in the treatment group (13.33%) was significantly lower than that in the control group (37.77%), the difference was statistically significant between the two groups (χ 2=7.066, P=0.007). Conclusion:Ethinylestradiol cycloproterone combined with metformin in the treatment of PCOS with insulin resistance has significant clinical efficacy, can alleviate the endocrine metabolic disorders and insulin resistance, it is worthy of clinical application and promotion.

11.
Chinese Journal of Perinatal Medicine ; (12): 127-133, 2019.
Article in Chinese | WPRIM | ID: wpr-745993

ABSTRACT

Objective To investigate the roles of ultrasound,laboratory methods,and genetic diagnostic techniques in screening and diagnosing fetuses with an unbalanced recombination of chromosome 18[rec(18)] due to parental pericentric inversion,and the relationship between rec(18) fetal phenotypes and their recombinant chromosomes.Methods We analyzed two pedigrees with pericentric inversion of chromosome 18 (including the fetuses and their parents) which received prenatal diagnosis and genetic counseling on March 2017 and March 2018 respectively at Xiamen Maternity and Children Health Care Hospital through karyotype analysis,chromosome microarray analysis(CMA) and fluorescence in situ hybridization (FISH).Literatures were retrieved from Scientific Citation Index,PubMed,China National Knowledge Infrastructure(CNKI) and Wanfang Data from 1970 to June 2018.The genetic counseling records,ultrasound and laboratory findings,pregnancy outcomes of families with pericentric inversion of chromosome 18 in this study and the included literatures were reported and analyzed.Results Non-invasive prenatal testing (NIPT) of one case indicated high risk of fetal trisomy 18 at 22 weeks of gestation.And the imaging examination indicated that fetus had interventricular septal defect and micrognathia at 24+2 weeks.Prenatal diagnosis confirmed that the fetal karyotype was 46,XY,rec(1 8)dup(18q) inv(18)(p1 1.32q12.1) pat,which was originated from his father whose karyotype was 46,XY,inv(1 8)(p1 1.32q12.1).In the other case,serum screening testing indicated high risk of fetal trisomy 18 at 12+3 weeks.Imaging examination indicated that fetus had thickened nuchal translucency at 13+3 weeks and bilateral choroid plexus cysts at 15+6 weeks.Prenatal diagnosis confirmed that the fetal karyotype was 46,XY,rec(18)dup(18q)inv(18) (p11.32q12.1) mat,which was originated from his mother whose karyotype was 46,XX,inv(18)(p11.32q12.1).Among the nine fetuses,including seven from five pedigrees reported in the literature retrieved and two from the two pedigrees we reported,seven showed abnormal soft markers or structures in ultrasound and three of the seven pedigrees had high risk of fetal trisomy 18.Conclusions Ultrasound screening is highly sensitive in detecting rec(18) fetuses,yet the association between ultrasound features and fetal karyotypes is not clear.The combination of multiple genetic analysis methods,including karyotype analysis,CMA and FISH,may be conducive to clarifying the types and sources of complex derived chromosomes.

12.
Chinese Journal of Medical Genetics ; (6): 175-178, 2019.
Article in Chinese | WPRIM | ID: wpr-775784

ABSTRACT

Pantothenate kinase-associated neurodegenerative diseases is a type of neurodegeneration with brain iron accumulation characterized by excessive iron deposition in specific parts of the brain. The phenotypic spectrum includes classic and atypical PKAN. The clinical presentation may range from speech disorder to severe dystonia, dysphagia, mental retardation and retinal degeneration. It is an autosomal recessive disorder characterized by a variant in the PANK2 gene, pathogenesis involves mitochondrial dysfunction, oxidative stress damage, lipid metabolism disorders and autophagy disorders. This review summarizes the clinical presentation, molecular pathogenesis, imaging modalities and genetics.


Subject(s)
Humans , Brain , Iron , Neurodegenerative Diseases , Phosphotransferases (Alcohol Group Acceptor)
13.
Chinese Journal of Medical Genetics ; (6): 671-675, 2017.
Article in Chinese | WPRIM | ID: wpr-344199

ABSTRACT

<p><b>OBJECTIVE</b>To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene.</p><p><b>METHODS</b>The clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review.</p><p><b>RESULTS</b>The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases. Magnetic resonance imaging has documented heterotopic gray matter changes. aCGH showed a 1.9 Mb triplication in the 14q12 region, which involved the FOXG1 and a predicted gene 14orf23.</p><p><b>CONCLUSION</b>For patients with early-onset severe psychomotor retardation, epilepsy, microcephaly, severe cognitive impairment and encephalodysplasia, analysis of copy number variations and mutations of the FOXG1 gene is crucial for the diagnosis.</p>


Subject(s)
Child , Female , Humans , Autism Spectrum Disorder , Genetics , Chromosomes, Human, Pair 14 , Comparative Genomic Hybridization , DNA Copy Number Variations , Forkhead Transcription Factors , Genetics , Intellectual Disability , Genetics , Magnetic Resonance Imaging , Microcephaly , Genetics , Nerve Tissue Proteins , Genetics
14.
Chongqing Medicine ; (36): 1736-1739, 2017.
Article in Chinese | WPRIM | ID: wpr-614066

ABSTRACT

Objective To investigate the effect of cytarabine (Ara-C) on proliferation and apoptosis of human erythroleukemia K562 cell linethrough autophagy pathway and its possible mechanism.Methods The cellular proliferation inhibiting rate after different concentrations of Ara-C acting for 24,48 h was detected by CCK-8;the cell cycle and apoptosis were detected by flow cy tometry(FCM);the chromatin morphological changes in nucleus were observed by Hoechst staining;the cell acidic autophagy vesicles were detected by acridine orange staining;the expression changes of p38 and p-p38 proteins were detected by Western blot.The expressions of autophagy apoptosis related gene and protein were examined by RT-PCR and immunofluorescence.Results The CCK-8 results found that different concentrations of Ara-C could inhibit the proliferation of K562 cells with dose-and time-dependent manners.FCM detecting indicated that Ara-C could increase apoptosis and could arrest the cell cycle at S phase;Hoechest staining showed that K562cells had typical apoptotic morphological changes after Ara-C treating;the Acridine orange staining revealed that Ara-C caused the inclease of the green fluorescene in cells of the Ara-C group,and the cells appeared a great number of acidic autophagy vesicles;RT-PCR results showed that Ara-C up-regulated the expression of autophagy key genes Beclin-1,LC3A and LC3B;Western blot results showed that Ara-C increased the expression of phosphorylated p-p38.Immunofluorescence results showed the expression of LC3B was significantly enhanced.Conclusion Ara-C canactivate p-p38 mediated K562 cells to generate autophagy,then inhibit the cell proliferation and promotes apoptosis.

15.
Chinese Journal of Medical Genetics ; (6): 316-319, 2016.
Article in Chinese | WPRIM | ID: wpr-247683

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutation of MLC1 gene in a child affected with megalencephalic leukoencephalopathy with subcortical cysts (MLC).</p><p><b>METHODS</b>Clinical symptoms of the patient were retrieved. Peripheral blood DNA samples from the patient, her parents and healthy controls were collected. Potential mutation of the MLC1 gene was detected by polymerase chain reaction and Sanger sequencing.</p><p><b>RESULTS</b>The patient presented with severe motor developmental delay and a giant skull. Magnetic resonance scan showed diffuse white matter swelling in bilateral hemispheres. DNA sequencing identified a novel homozygous c.177-c.180delC mutation of the MLC1 gene. The parents of the patient both carried a heterozygous mutation c.177-c.180delC but had a normal phenotype.</p><p><b>CONCLUSION</b>A novel MLC1 mutation c.177-c.180delC has been identified in a patient with MLC. The mutation is presumably disease-causing and has derived from parents who are both carriers.</p>


Subject(s)
Child, Preschool , Female , Humans , Cysts , Genetics , Hereditary Central Nervous System Demyelinating Diseases , Genetics , Membrane Proteins , Genetics , Mutation
16.
Chinese Journal of Postgraduates of Medicine ; (36): 596-599, 2016.
Article in Chinese | WPRIM | ID: wpr-494849

ABSTRACT

Objective To explore the recurrence of chronic hepatitis B(CHB) after stopping nucleoside (acid) analogue(NAs) and the impact of residual amount of serum hepatitis B virus(HBV) DNA on recurrence. Methods Seventy-nine CHB patients, who received treatment of NAs and achieved standard withdrawal were enrolled in this study. According to lab examination, there were 47 hepatitis B e antigens (HBeAg)-positive patients and 32 HBeAg-negative patients. Meanwhile, 33 CHB patients received lamivudine treatment (LAM group), 27 CHB patients received adefovir treatment (ADV group), and 19 CHB patients received entecavir treatment (ETV group). The biochemical and virological indicators of CHB patients′recurrence would be recorded after 48 weeks. Results There were 43 CHB patients (54.4%), whose indicators of HBV DNA turned positive after discontinuity of treatment with NAs of 48 weeks. There were 27 CHB patients (55.3%), the HBV DNA of whom turned positive among 47 HBeAg-positive patients, and 17 patients(53.1%) among 32 HBeAg-negative patients, and there was no significant difference (P>0.05). In addition, the positive conversion rate after stopping treatment with NAs of 48 weeks in LAM group, ADV group and ETV group had no significant difference:54.5%(18/33), 51.9%(14/27), 11/19, P > 0.05. Moreover, there were 36 patients (45.6%) whose index of alanine aminotransferase(ALT) increased again after discontinuity of treatment with NAs of 48 weeks . There were 20 CHB patients (42.6%) in HBeAg-positive patients, and 16 patients (50.0%) in HBeAg-negative patients, and there was no significant difference (P>0.05). The rate of ALT increase again in LAM group, ADV group and ETV group had no significant difference: 48.5%(16/33), 40.7%(11/27), and 9/19, P >0.05. According to the results of serum samples of 79 CHB patients with Roche reagent when stopping using NAs, in 35 CHB patients (44.3%) serum HBV DNA>12 × 103 U/L was detected. However, serum HBV DNA>5 × 105 U/L was detected in 25 CHB patients (71.4%)among 35 patients with serum HBV DNA > 12 × 103 U/L after 48 weeks, and merely in 18 CHB patients (40.9%) among 44 patients with serum HBV DNA < 12 × 103 U/L, and there was significant difference (P < 0.01). Conclusions The CHB patients with standard withdrawal still have high recurrence rate after stopping treating, whatever medicine was used. Then, residual amount of serum HBV DNA is an important indicator for predicting relapse of CHB. Meanwhile, the retreatment of these patients should be researched further.

17.
World Science and Technology-Modernization of Traditional Chinese Medicine ; (12): 2355-2360, 2014.
Article in Chinese | WPRIM | ID: wpr-458524

ABSTRACT

This study aimed to identify Belamcandae Rhizoma, Iridis tectori Rhizoma and their adulterants by ITS2 sequence. All the DNA samples of Belamcandae Rhizoma, Iridis tectori Rhizoma and their adulterants were extracted. The ITS2 sequence were succesfully amplified, and purified PCR products were sequenced. All the sequences were assembled using the CondonCode Aligner V3.7.1. The Kimura 2-Parameter (K2P) genetic distances and the Neighbor-Joining (NJ) phylogenetic tree were calculated by using MEGA5.1. Results indicated that the maximum intraspecific genetic distances of Belamcandae Rhizoma was 0, and the average GC content was 52.22%;the maximum intraspecific genetic distances of Iridis tectori Rhizoma was 0.004, and the average GC content was 67.87%. The maximum K2P intraspecific genetic distance of Belamcanda chinensis, Iris tectorum were both lower than the minimum interspecific genetic distance of adulterants. Additionally, the ITS2 sequences in each of these polytypic species were separated into pairs of divergent clusters in the NJ tree. The NJ tree based on ITS2 sequence indicated that Belamcandae Rhizoma, Iridis tectori Rhizoma and their adulterants could be distinguished clearly. It could be concluded that ITS2 barcode can be used to correctly identify Belamcandae Rhizoma, Iridis tectori Rhizoma from their adulterants, and ensure their safety in use.

18.
Journal of Peking University(Health Sciences) ; (6)2003.
Article in Chinese | WPRIM | ID: wpr-560585

ABSTRACT

Objective: To investigate the expression of human leukocyte antigens(HLA) in human fetal bone marrow mesenchymal stem cells(MSCs) after long time culture as well as the changes in response to interferon-?(IFN-?) treatment.Methods: Human fetal MSCs were collected from 23 to 24-weeks-old fetues with the approval of Ethic Committee of Peking University Health Science Center.The cells of passage 5 and passage 12 were analyzed for HLA expression before and after IFN-?(50 ?g/L) treatment by flow cytometry at different time points.The passage 5 cells were also treated with an additional dose of IFN-?(5 ?g/L) and the HLA expression was analyzed 24,48,72,96 and 120 h after treatment.RT-PCR was used to evaluate HLA-G and HLA-E expression at mRNA level in human fetal MSCs.Results: Flow cytometry results showed that fetal MSCs expressed high level of HLA class Ⅰ(HLA-Ⅰ) antigen,but extremely low level of HLA class Ⅱ(HLA-Ⅱ) antigen.The percentage of HLA-Ⅰ positive MSCs in total MSCs was approximately over 50%,while that of HLA-Ⅱ positive MSCs in total MSCs was less than 10%.IFN-?(50 ?g/L) enhanced the HLA-Ⅰ and HLA-Ⅱ expression in a time dependent manner and increased the percentage of HLA-Ⅰ positive cells in both passage 5 and passage 12 cells but preferably in passage 5 cells.The enhanced HLA-Ⅱ expression was seen 48 h after IFN-? treatment in passage 5 cells(59.9%) but 72 h in passage 12 cells(48.1%).The treatment of 5 ?g/L IFN-? also increased percentage of HLA-Ⅰ and HLA-Ⅱ positive MSCs,but with a relatively less extent compared to the 50?g/L IFN-? treatment group.RT-PCR result indicated HLA-G and HLA-E were expressed at mRNA level in human fetal MSCs.Conclusion: Human fetal MSCs can be induced to express both HLA class Ⅰ and class Ⅱ antigens by IFN-?.The long time culture might reduce the IFN-? effects.Human fetal MSCs express HLA-G and HLA-E at mRNA level.

19.
Chinese Journal of Practical Internal Medicine ; (12)2001.
Article in Chinese | WPRIM | ID: wpr-567928

ABSTRACT

Peroxisome proliferators-activated receptors(PPARs)are ligand activated transcriptional factors and belonging to the nuclear receptor superfamily.PPARs play important roles in the regulation of lipid and glucose metabolism,energy homeostasis,cell proliferation,differentiation and reproduction.Furthermore,PPARs agonists were closely correlated to atherosclerosis and involved in delaying the formation of atherosclerosis.

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