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This article reported a male neonate with Smith-Lemli-Opitz syndrome (SLOS) caused by DHCR7 gene compound heterozygous variations. The patient presented with multiple malformations and feeding difficulties after birth and was transferred to the First Affiliated Hospital of Hunan Normal University (Hunan Provincial People's Hospital) from a local hospital eight days later. Physical examination found general scleredema, scalp defects, short penis, urinary tract malformation, bilateral syndactyly of the second and third toes, and low serum cholesterol. Whole-exome and Sanger sequencing indicated a compound heterozygous mutation in the DHCR7 gene, c.852C>A(p.F284L), and a de novo mutation of c.820_825del(p.N274_V275del). SLOS is rare in the Asian populations and prone to missed diagnosis and misdiagnosis with difficulty in clinical management. The possibility of SLOS should be considered for newborns with multiple malformations and low serum cholesterol.
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The role of malate dehydrogenase 2 (MDH2) in tumors is double-sided,it has a cancerpromoting effect in some tumors and an inhibitory effect in other tumors.The function of MDH2 is related to energy metabolism,tumor resistance and its pseudo hypoxia.MDH2 plays an important role in the occurrence,development,invasion and metastasis of tumors.An in-depth understanding of the functional mechanism of MDH2 in tumors can provide new molecular targets for tumor intervention in the clinic.
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BACKGROUND:Transformation growth factor-β(TGF-β) and brain-derived neurotrophic factor (BDNF) are the main regulatory factors in the process of spinal cord injury. There are many researches for TGF-βand BDNF pathogenesis in the spinal cord injury, but the regulation of Ginsenoside Rg1 intervention on TGF-βand BDNF in the spinal cord injury is rarely reported. OBJECTIVE:To observe the effect of Ginsenoside Rg1 intervention on TGF-βand BDNF expression at themolecular protein levels, and to study the protection effect of Ginsenoside Rg1 on the spinal cord and nerve function after spinal cord injury. METHODS:Experimental rats were randomly divided into blank control group, model group and Ginsenoside Rg1 group. In the model and Ginsenoside Rg1 groups, spinal cord injury model was established with the impact method in rats. In the Ginsenoside Rg1 group, rats were intraperitoneal y injected with 10 mg/kg Ginsenoside Rg1 24 hours after modeling, once per day, for 14 days. Rats in the blank control and model groups were injected with equal saline. RESULTS AND CONCLUSION:Compared with the control group, serum malondialdehyde levels increased, the content of superoxide dismutase decreased, TGF-βexpression levels in spinal cord tissue increased, and BDNF expression levels decreased in the model and Ginsenoside Rg1 groups. Compared with the model group, serum malondialdehyde levels decreased, the content of superoxide dismutase increased, TGF-βexpression levels in spinal cord tissue decreased, and BDNF expression levels increased in the Ginsenoside Rg1 group. Ginsenoside Rg1 can protect the injury spinal cord in rats after spinal cord injury.
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Objective To explore the association between the polymorphism rs671 site of the acetaldehyde dehydrogenase 2 (ALDH2) gene and H-type hypertension in the elderly in Han nationality in Qingdao.Methods Totally 406 patients aged 60-90 years with primary hypertension were randomly selected in the study.Serum levels of homocysteine(Hcy),folate and vitamin B12 were determined and all patients were divided into H-type hypertension group and non H-type hypertension group.Gene chip technology was used to analyze the ALDH2 (rs671) polymorphism,and the association between ALDH2 gene and H type hypertension was evaluated.Results Of all hypertensive participants,82.0％ (333/406) were in H-type hypertension,87.4％ (221/253) in male and 73.2％ (112/153) in female.The GA/AA genotype and A allele frequency were higher in H-type hypertension group than in non H-type hypertension group [37.2 ％ (124/333) vs.16.4 ％ (12/73) and 21.3％(71/333) vs.9.6％(7/73),P=0.001and 0.021].Serum Hcyleveland the prevalence of H type hypertension were higher in GA/AA genotype group than in GG genotype group(both P＜ 0.05).Logistic regression analysis showed that GA/AA genotype,gender (male),drinking,folate deficiency and increased systolic pressure were the risk factors for H-type hypertension (OR=3.17,2.14,2.37,0.75,1.03,respectively,all P＜ 0.05).Conclusions The genetic variation of ALDH2(rs671) may increase Hcy level by decreasing the levels of folate and vitamin B12.GA/AA genotype is a risk factor for H-type hypertension,and it contributes to H-type hypertension together with gender,drinking history,folate levels and systolic pressure.
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Objective To investigate the inhibitory effect and its related mechanism of Erigeron breviscapus on pathogenesis of acute kidney injury (AKI) in rats with sepsis. Methods Thirty-six male Wistar rats were randomly assigned into control group, sepsis model group (CLP group), and breviscapine treatment group (treatment group, n=12 each). The sepsis model was reproduced by cecal ligation and puncture (CLP). The rats were sacrificed 24 h after operation. The levels of blood urea nitrogen (BUN) and serum creatinine (Scr) were assayed with enzymatic assays, endothelin 1 (ET-1) and inducible nitric oxide synthase (iNOS) with ELISA, renal malondialdehyde (MDA) and superoxide dismutase (SOD) activities with xanthine oxide method, and the degree of renal tissue injury by micros copic examination after HE staining Results Compared with the control group, the levels of Scr, BUN, ET-1, iNOS, MDA and iNOS in CLP groups significantly increased, while the SOD activities significantly decreased (P<0.05). Compared with the CLP group, the levels of Scr, BUN, ET-1, iNOS, MDA and iNOS were lower markedly in treatment group, while the SOD activity elevated markedly (P<0.05). Conclusions Breviscapine may reduce AKI in rats with sepsis, and the effect may be related to the improvement of renal microcirculation, reduction of antioxidant enzyme activity, and decrease in oxidation products.
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Objective To evaluate the role of nicotinamide adenine dinucleotide phosphate oxidase (NADPH oxidase) in the spinal cord in the maintenance of diabetic neuropathic pain in rats.Methods Pathogenfree male Sprague-Dawley rats,aged 2 months,weighing 180-220 g,were used in the study.Diabetes mellitus was induced by intraperitoneal streptozotocin (STZ) 60mg/kg and confirmed by blood glucose ＞ 16.7 mmol/L at 72 h after STZ injection.Twenty diabetic rats were randomly allocated to diabetic neuropathic pain group (DN group,n =10) and apocynin (specific NADPH oxidase inhibitor) group (A group,n =10).Another 10 agematched normal rats served as control group (C group,n =10).Twenty-eight days after STZ injection,apyconin 5 mg/kg was injected intraperitoneally once a day for 7 consecutive days in A group.Paw withdrawal threshold to yon Frey filament stimulation (PWT) was measured before STZ injection (T1) and at 7,14,21,28 and 35 days after STZ injection (T2-6).The rats were sacrificed after PWT was measured at T6 and L4.5 segments of the spinal cord were removed for determination of NADPH oxidase subunits gp91phox and p47phox expression,MAD content and SOD activity.Results Compared with C group,PWT was significantly decreased at T3-5,gp91phox and p47phox expression was up-regulated,MAD content was increased,and SOD activity was decreased in DN and A groups.Compared with DN group,PWT was significantly increased at T6,gp91phox and p47phox expression was downregulated,MAD content was decreased,and SOD activity was increased in A group.Conclusion NADPH oxidase in the spinal cord is involved in the maintenance of diabetic neuropathic pain in rats.
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Objective To investigate changes of oxidative stress in the hearts and their roles in diabetic cardiomyopathy of rats.Methods Thirty six rats with diabetic cardiomyopathy were induced by streptozocin(STZ),and were randomly divided into three groups:(1) normal control (NC) group,normal control rats; (2) Diabetes maintain (DM) group,diabetic rats received protamine zinc insulin (PZI) 2 ～4 U/2 days; and (3) Diabetes treatment (DT) group,diabetic rats received PZI 9 ～ 12 U/kg body weigh/day.After 12 weeks,rats were killed,and the parameters including blood glucose,glycated hemoglobin a1c (HbA1c),total cholesterol (TC),and triglyceride (TG) were measured.Maleic dialdehyde (MDA),the total antioxidant capacity of the hearts,and activities of antioxidant enzymes in hearts including total superoxide dismutase (TSOD),catalase (CAT),and glutathione peroxidase (GSH-Px) were measured by chromatometry.The pathologic changes of heart tissues were studied by hematoxylin eosin (HE),periodic acid Schiff (PAS),and nitrotyrosine (NT) staining.Results After 12 weeks,parameters including blood glucose,HbA1c,TC,and TG were increased significantly in DM group relative to NC group or DT group.The level of heart MDA was elevated obviously in the DM group [NC group (7.82 ±0.62) nmol/mgprot,DM group (12.81 ± 1.35) nmol/mgprot,and DT group (8.20 ±0.85) nmol/mgprot].The total antioxidant capacity and activities of TSOD [(235.09 ± 14.94) U/mgprot],GSH-Px [(56.59 ± 4.96) U] were decreased significantly in the DM group.The level of CAT [(13.84 ± 2.88) U/mgprot] was increased obviously in the DM group.The cardial myocyte hypertrophy,myocyte steatosis,and PAS positive material could be found in the hearts of rats in DM group with HE and PAS staining.The expression of NT was much stronger in DM group than NC or DT groups.NT was less expressed in DT group,and was almost not expressed in the NC group.Conclusions Oxidative stress could be caused by diabetes in diaetic hearts and might play an important role in the etiology of diabetic cardiomyopathy.
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Objective To investigate the influences of the functional polymorphisms of cytochrome P450 isozymes 2A6 (CYP2A6),2B6 (CYP2B6),2C9 (CYP2C9),and 2C19 (CYP2C19) on plasma concentration of sodium valproate.Methods A total of 131 Chinese children with epilepsy receiving sodium valproate after a period of more than 5 half-time were recruited.The genotypes of CYP2A6 were detected by multiplex polymerase chain reaction (PCR),and the genotypes of CYP2B6,CYP2C9,and CYP2C19 were detected by PCR-ligase detection reaction.Enzyme-multiplied immunoassay technique was used to measure the plasma concentration of sodium valproate.The association between the polymorphisms and the plasma concentration of sodium valproate were analyzed by one-way ANOVA or Student' s t-test.Results Patients were divided into 4 groups according to the genotyping results of CYP2C9 and CYP2C19 (G1:extensive metabolizers in both CYP2C9 and CYP2C19; G2:CYP2C19 intermediate metabolizers; G3:CYP2C19 poor metabolizers; G4:CYP2C9 poor metabolizers),the mean normalized steady-state sodium valproate concentrations were significantly higher in G3 (3.70 ± 0.95) and G4 (4.35 ± 1.48) patients when compared to those in G 1 (2.57 ± 1.30,t =3.056,4.490,both P ＜ 0.01) and G2 (2.76 ± 1.19,t =2.827,4.462,both P ＜ 0.01) patients.The daily doses (mg/d) of sodium valproate received by G3 (19.46 ± 5.20) and G4 (19.30 ±7.67) patients were significantly lower than that of G1 patients(24.10 ±6.97,t =2.359,2.297,both P ＜ 0.05).There were no differences in daily doses or normalized steady-state concentrations of sodium valproate among the CYP2A6* 4 or CYP2B6* 6 genotypic groups.Conclusions The CYP2C9 and CYP2C19 polymorphisms have dramatic effects on the plasma concentration of sodium valproate.The daily doses of sodium valproate in G3 and G4 patients should be lower than usual.
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Objective To investigate the effect of icariin on renal ischemia-reperfusion injury (IRI) and the action mechanism.Methods SD rats were divided into 3 groups.The model of unilateral renal IRI was established in SD rats,and Icariin (100 mg/kg) was orally administrated by gavage daily from 2 days before operation to 12 days after operation (icariin group).The vehicle of icariin was administrated to IRI model rats as control group,while in the sham-operation group the renal pedicel was only dissociated without treatment.Body weight and kidney function were monitored within 14 days after reperfusion.The kidney was harvested at 24 h after reperfusion,and then malonaldehyde (MDA) and activity of reactive oxygen species (ROS) scavenger enzymes were examined.Histopathological changes were observed at postoperative day (POD) 3 and 14.Results At POD 3,7,11 and 14,the creatinine clearance rate was significantly higher in icariin group than in control group (P＜0.01). Icariin group had significantly lower Paller scores which indicated tubules injury than in control group at day 3 after reperfusion (P＜0.01 ).In icariin group,MDA level was obviously decreased at 24 h after operation.Compared to control group,icariin group had statistically higher activity of glutathion reductase (GR),catalase and superoxide dismutase (SOD),as well as higher level of reduced glutathione (GSH) (P＜0.05).Conclusion Icariin has protective effects on renal IRI,and can promote recovery of kidney function. Icariin can reduce oxidative stress through increasing activity of ROS scavengers.
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Objective To investigate the expression and clinicopathological features of gene associated with retinoid-interferon mortality-19 (GRIM-19) in epithelial ovarian carcinoma.Methods The expression of GRIM-19 gene in tissues from 138 cases of epithelial ovarian carcinoma,102 cases of benign ovarian epithelial tumor and 46 cases of normal ovarian tissues were detected by Immunohistochemistry and Western blot methods.Assembled clinical survival data were analyzed with Kaplan-Meier and Cox regression models.Results The expression level of GRIM-19 in epithelial ovarian carcinoma (3.4 ± 2.0) was lower than that in benign ovarian tumor tissues (4.7 ± 2.9) and that in normal ovarian tissues (7.5 ± 2.2 ; P ＜0.01).The level of GRIM-19 expression was related to the survival time of epithelial ovarian carcinoma patients by Kaplan-Meier analysis (P =0.002).The shorter survival time of epithelial ovarian carcinoma patients was significantly associated with the level of GRIM-19 expression (P =0.001),clinical stage (P =0.001),volume of ascites (P =0.023) and the largest diameter of the primary tumor lesion (P =0.044) by Cox regression models.Conclusions The low expression of GRIM-19 in the epithelial ovarian carcinoma suggests that GRIM-19 may be a key gene involved in its carcinogenesis.The expression level of GRIM-19 may be also an independent prognostic factor for epithelial ovarian carcinoma patients.
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Objective To investigate the clinical significance and mechanism of WW domain containing oxidoreductase (WWOX) gene and p73 gene abnormal expression in acute lymphocytic leukemia (ALL).MethodsCase-control study was used in the research.Forty-eight cases of bone marrows from ALL patients were collected,including 32 cases newly diagnosed,11 cases with complete remission and 5 case with relapse.Thirty-one cases of bone marrows from non-leukemia patients were used as control group.All the samples were collected from First Affiliated Hospital of Guangxi Medical University from July 2010 to July 2011.The doctors punctured patients' bone marrows 3 milliliters from the left of posterior superior iliac spine.Samples were bottled up with EDTA anti-coagulation tube.1 milliliter bone marrow was used to extract genome RNA with purity from 1.8 to 2.0.And then,the level of WWOX and p73 gene transcripts were tested immediately using reverse transcriptase-polymerase chain reaction (RT-PCR).Meanwhile genome DNA was also extracted from the other 2 milliliter bone marrow with purity from 1.7 to 1.9,which was used to detect the promoter methylation of WWOX gene and the first exon methylation of p73 gene by methylation PCR (MS-PCP).x2 test and Fisher's exact test were used to compare tbe methylation status of WWOX and p73 gene.Results In 31 controls,expression of WWOX and p73 gene mRNA was 94.00％.The total expression frequency of WWOX gene mRNA in 48 ALL samples was 48.00％ (23/48),much lower than control (x2 =17.434,P =0.000 ).There was significant difference (x2 =10.471,P =0.001 ) between newly diagnosed cases 34.38％ ( 11/32),complcte remission cases (90.91％,10/11 ) and control.The total expression frequency of p73 gene mRNA in 48 ALL samples was 56.00％ (27/48),much lower than control (x2 =12.697,P =0.000).There was significant difference (P =0.012 ) between newly diagnosed cases 43.75％(14/32) and complete remission cases 90.91％(10/11).It was unmethylation in 31 controls.The total methylation frequency of WWOX gene promoter region in 48 ALL samples was 44.00％(21/48),much lower than control (x2 =18.473,P =0.000).There was significant difference (P =0.012) between newly diagnosed cases 56.25％ (18/32),complete remission cases 9.09％ (1/11 ) and control.The total methylation frequency of p73 gene the first exon region in 48 ALL samples was 35.00％(17/48),much lower than control (x2 =13.990,P =0.000).There was significant difference (P =0.033) between newly diagnosed cases 46.88％ (15/32),complete remission cases 9.09％ ( 1/11 ) and control.There was a negative correlation between the expression of WWOX gene mRNA and its methylation status(r =- 0.678,P =0.000),the same as p73 gene ( r =- 0.577,P =0.000).ConclusionsThe abnormal methylation of WWOX and p73 gene may be the major mechanism of gene silence in ALL,which leads to no expression of WWOX mRNA or p73 mRNA.And the abnormal methylation of WWOX and p73 gene may be relevant with the process of occurrence and development in ALL.It may be an effective and significant to detect methylation status of WWOX gene and p73 gene for the diagnosis and treatment of ALL patients.(Chin J Lab Med,2012,35:820-825)
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Objective To investigate the association between the C609T polymorphism of NAD (P)H:quinoneoxidoreductase (NQO1) gene and post operative cognitive dysfunction (POCD).Methods 90 ASA Ⅰ-Ⅱ patients of 59 to 78 years old, undergoing elective hip replacement with epidural anesthesia were enrolled.All patients were given a battery of 5 neuropsychological tests before operation and seven days after operation.Patients were divided into POCD group and control group according to test results (45 patients in each group).The single nucleotide polymorphism C609T of NQO1 gene was detected using real-time PCR by Taqman probes and subjected to odd ratio assessment.Results 5 samples in control group couldn' t be used in the real-time PCR analysis due to quality control.The frequency of C/C genotype in POCD control was lower than that of control group ( 30.0% vs 11.1% ) with statistical significance ( OR = 0.292,95 % CI 0.092 ～ 0.92 1, P ＜ 0.05 ).The C/T +T/T genotype frequency was significantly higher in group POCD than in the control group(88.8% vs 70% ).Patients presented with C/T + T/T genotype showed an evidently increased risk of POCD ( OR =3.42,95% CI 1.08 ～ 10.82,P ＜ 0.05 ).The frequency of C allele of NQO1 gene in group control was 56.2%, as compared with 40% in group POCD with significance ( OR = 0.519,95% CI 0.282 ～ 0.955, P ＜ 0.05 ).The frequency of T allele of NQOI gene in control group was 43.7% ,as compared with 60.0% in POCD group( OR = 1.93,95% CI 1.047 ～3.552,P＜O.05).Conclusion The NQO1 gene single nucleotide polymorphism C609T is evidently associated with the increased risk of POCD.
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Objective To explore the relationship between WWOX gene and attachment and adhesion of ovarian cancer. Methods The expression of WWOX mRNA was detected by RT-PCR, the expression of the WWOX protein was evaluated by western blot in WWOX-transfected PEO1 cells (H6, H7, H8 cell) and vector-transfected control cells (vec-1, vec-2 cell). Attachment assay was used to assess the adhesion of the tranafection in PEOI cells via culturing the cells on the pre-coated fibronectin wells. RNA interference (RNAi) was used to knockdown the endogenous expression of WWOX in the A2780 ovarian cancer cell line by liposome. Attachment assay was detected the adhesion to fibronectin after gene silencing. Restdts RT-PCR showed that expression of mRNA WWOX in exon9 was in all transfection cells (H6, H7, H8, vec-1, vec-2 cell ). Western blot showed that expression of WWOX protein was in the WWOX-transfected cells (H6, H7, H8 cell ), but not in the vector-transfected cells (vec-1, vec-2 cell ). Attachment assay showed that H6, H7, H8 cell (0.098±0.003, 0.091±0.004, 0.099±0.003) adhered more slowly to fibronectin than vec-1, vec-2 cell (0.185±0.003, 0.175±0.006) and non-transfected PEO1 cell (0.211±0.007), and demonstrated significantly reduced adhesion after 2 hours (P ＜ 0.01). A2780 adhesive cells that WWOX gene be knockdown was 0.059±0.005, adhered more significantly rapid than those untreated cells that was 0.029±0.003 after treated 30 minutes (P ＜ 0.05 ). Conclusions WWOX gene can suppress adhesion to fibronectin in ovarian cancer cells. This suggests an important role for loss of WWOX gene in promoting attachment and adhesion of ovarian cancer cells on loco-regional peritoneum, and further resulting in enhancing loco-regional peritoneal tumor invasiveness and spread.
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Objective To investigate the effects of ulinastatin on serum concentrations of advanced oxidation protein products and C-reactive protein in patients with multiple organ dysfunction syndrome(MODS).Methods Seventy-two patients with MODS were randomly divided into ulinastatin group(n=36) and control group(n=36).The serum concentrations of advanced oxidation protein products and C-reactive protein in two groups were determined before therapy and after 3d,5d and 7d of therapy.Acute physiology and chronic health evaluation Ⅲ (APACHE Ⅲ)for patients were recorded before therapy and after 3d,5d,7d of therapy.Mortality within 28d was also compared between the two groups.The serum concentrations of advanced oxidation protein products and C-reactive protein in 36 healthy volunteers were detected as normal control.Results The concentrations of AOPP and CRP in patients with MODS before therapy were significantly higher than those obtained from healthy volunteers(P<0.05), whereas no obvions difference was found between the two groups.However,the levels of AOPP and CRP in patients with MODS were significantly decreased after 3d,5d,7d of therapy.Compared with control group,AOPP concentrations and CRP levels were markedly attenuated and APACHE Ⅲ scores decreased significantly in ulinastatin group(P<0.05).The mortality in ulinastatin group was also improved more significantly than that in control group(P<0.05).Conclusion Ulinastatin can decrease the concentrations of serum AOPP and CRP in patients with MODS,so as to alleviate the damage resulting from oxidative stress and inflammation,contributing to improve the outcome in patients with MODS.
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Objective To study the effects of anti-oncogene WWOX on cell growth of epithelial ovarian cancer,in order to find a new approach of gene therapy for ovarian cancer.Methods A eukaryotic expression vector containing WWOX was transfected into ovarian cancer cell line HO8910 in vitro (recombinant plasmid group),and positive cell clones were selected and amplified.Expression of WWOX protein was detected by western blot. Untransfected cell(blank contrast group) and transfected empty plasmid cell(empty plasmid group)were served as control groups.In vitro,the biology effect of WWOX on HO8910 cell was analyzed throush the methyl thiazolyl tetrazolium test,transwell chamber cell invasion assay in vitro,agarose clony-formation and flow cytometry.In vivo,the cell of transfection was transplanted intraperitoneally in to BALB/c nude mice.The survival time and growth ability of nude mice were observed.Results (1)Recombinant plasmid group cell could steadily express WWOX protein,while in empty plasmid group and blank control group the expression of WWOX protein were not detected.(2)The growth rate of recombinant plasmid group cell was inhibited.(3)The agnrose clony-formation rate of recombinant plasmid group(19.8%)was significantly lower than that of the empty plasmid group(54.5%)and blank control group(56.0%,P＜0.05).(4)Flow cytometry showed that(72.08±0.39)% of cells was arrested at G0/G1 stage in recombinant plasmid group, while in empty plasmid group and blank control group G0/G1 stage cells were at (41.02±1.08)% and (39.31±0.67)% (P＜0.05). (5) In vitro invasion assay showed that invasion cell number in recombinant plasmid group (89.7±3. 1 ) was not significantly different from that of empty plasmid group(91.2±1.3) and blank control group(91.4±1.3, P ＞0. 05). (6) In vivo test in nude mice showed that WWOX gene could inhibit tumor growth of the HO8910 cells. Conclusions Tumor suppressor gene WWOX could interfere with the cell cycles of ovarian cancer cell and inhibit cell proliferation. As a new valuable tool,it premises to have application in the gene therapy of ovarian cancer.
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Objective To assess the suppression effect on WWOX gene in SKOV3/SB cell line by small interference RNA (siRNA). Methods Transfection of siRNA using lipofeetamine 2000 was conducted to silence WWOX gene expression, the expression levels of WWOX mRNA and protein were evaluated,and the effects on the cell cycles at 48 hours of transfection were assessed by RT-PCR, western blot and flow eytometry (FCM) respectively. The cisplatin resistance index was assayed after transfection of SKOV3/SB with siRNA by methyl thiazolyl tetrazolium(MTT) and the cisplatin concentration of SKOV3/SB cells transfected with siRNA of WWOX was measured by high performance liquid chromatography. Results(1) In SKOV3/SB cells transfected with WWOX interference fragment, whether at the mRNA or protein level, the expression of both of WWOX decreased. There was a significant difference (P<0.05) compared with SKOV3 cells and non-transfected cells. (2) After transfecfion of the WWOX interference fragment, the index of platinum resistance of SKOV3/SB decreased from 5.04 to 3.89. (3) The number of cell transfected with the WWOX interference fragment in G1 phase was increased, while that in S-phase was decreased. (4) The cisplatin concenla'ation of SKOV3/SB cells transfected with the WWOX interference fragment was increased from 9.43 ng/L to 23.45 ng/L compared with SKOV3/SB cells non-transfected with a significant difference (P<0.05). Conclusion WWOX gene may be involved in cisplatin resistance phenomenon in epithelial ovarian cancer.
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G) in PTPS gene were identified in 7 families. The third fetus from two families were not affected by PTPS deficiency.
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The induction of NAD(P)H: quinone oxidoreductase (QR), glutathione S-transferase (GST), and glutathione (GSH) levels in hepa1c1c7 cells (murine hepatoma) by waxy brown rice cultured with Phellinus igniarius to induce anticarcinogenic enzymes were measured. In addition, the inhibition of polyamines metabolism was tested with the growth of Acanthamoeba castellanii. The result shows that QR, GST activities, and GSH levels of experimental animals were increased much more by feeding the methanol extract of waxy brown rice cultured with Phellinus igniarius than those of the rats received the ethanol of uncultured brown rice. The growth of A. castellanii was inhibited mostly at 40 mg/3 ml concentration of methanol extract of waxy brown rice cultured with P. igniarius. The results suggested that waxy brown rice cultured with P. igniarius possess chemopreventive activity by inducing anticarcinogenic enzymes and inhibiting polyamine metabolism.
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Animals , Rats , Acanthamoeba castellanii , Chemoprevention , Ethanol , Glutathione , Glutathione Transferase , Metabolism , Methanol , PolyaminesABSTRACT
Objective To investigate the association of gene polymorphism of methylenetetrahydrofolate reductase (MTHFR), and the level of homocysteine (Hcy) in patients with cerebral thrombosis in Chinese population Methods MTHFR genotype and allele frequency in 75 patients with cerebral thrombosis and 62 control subjects were measured by polymerase chain reaction and restriction fragment length polymorphism (PCR RFLP) Concentration of plasma Hcy was measured by reverse phase high performance liquid chromatography in a subgroup Results In patients and control subjects, the frequencies of T allele were 0 41 and 0 31, respectively The frequencies of CC, CT, TT genotype of cerebral thrombosis patients were 0 41, 0 35, 0 24, respectively Meanwhile those of the controls were 0 58, 0 23, 0 19 Neither the genotype ( P =0 137) nor the allele frequency ( P =0 067) was significantly different between patients and control subjects Furthermore, plasma Hcy level of the patients was (18 3?7 2) ?mol/L, which differed significantly from that of the controls, which was (13 6?5 8) ?mol/L ( P
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Objective To study the relationships between polymorphisms of angiotensin-converting enzyme (ACE) gene and methylenetetrahydrofolate reductase (MTHFR) gene and pregnancy induced hypertension (PIH). Methods Ninety-nine PIH patients (PIH group), including 21 mild cases, 24 moderate cases and 54 severe cases and 54 normal pregnant women (control group) were recruited.The polymorphism of ACE gene was detected by PCR, and that of MTHFR gene was detected by PCR-RFLP. Results In PIH group, the frequencies of genotypes II, ID, and DD of ACE gene were 20.2%, 37.4% and 42.4% respectively, the frequencies of genotypes CC, CT, and TT of MTHFR gene were 53.5%, 31.3% and 15.2% respectively. There existed significant difference between genotypes DD, CT and D allele in PIH group and control group. Compared to mild PIH group, the frequencies of genotypes DD and CT in severe PIH group were significantly higher. The susceptibility to PIH in individuals with genotypes CC+DD was 2.648 times that of the controls. However, individuals with genotypes CT+II and CC+II were less susceptible to PIH in comparison to the controls. Logistic regression analysis showed that genotype DD and D allele were associated with PIH, genotype CT was associated with severe PIH. Conclusion Genotypes DD and CT may be the risk factors of PIH; genotype II may have a protective effect against PIH. There may exist some interaction between polymorphisms of ACE gene and MTHFR gene in the pathogenesis of PIH.