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Transient receptor potential cation channel 6 (TRPC6) is a member of the transient receptor superfamily encoded by the TRPC6 gene and is widely expressed in tissues and organs of the human body, especially in the glomerular podocytes. TRPC6 interacts with various slit diaphragm (SD) proteins including podocin, nephrin, ACTN4, and CD2AP to maintain the normal structure and function of glomerular podocytes. Foot process fusion caused by podocyte damage due to various factors is the most important morphological change in kidney disease. This article reviews the biological function of TRPC6 and its effect on kidney disease.
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<p><b>OBJECTIVE</b>To study the association of integrin alpha-2 (ITGA2) gene C807T, integrin beta-3 (ITGB3) gene T176C polymorphisms with ischemic stroke and the effect of the polymorphisms on plasma lipid and lipoprotein levels.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing were used to detect the integrin genotypes in 265 patients with ischemic stroke and 280 healthy controls. The plasma lipid and lipoprotein levels were measured by routine method.</p><p><b>RESULTS</b>Plasma total cholesterol (TC), triacylglycerol (TG) and low density lipoprotein-cholesterol (LDL-C) in the patients with ischemic stroke were significantly higher than those in the controls (P< 0.05). The distributions of the ITGB3 gene T176C polymorphism were not different between the ischemic stroke group and control group, but the ITGA2 gene C807T polymorphism was significantly different. The relative risk suffering from ischemic stroke of the T allele carrier was 1.455 times as that of the C allele carrier (OR=1.455, 95%CI: 1.134-1.866). The level of plasma lipid in the T allele carriers was significantly higher than that in the C allele carriers (P< 0.05).</p><p><b>CONCLUSION</b>The ITGA2 gene C807T polymorphism was associated with ischemic stroke, the 807 T allele may be a genetic risk factor for ischemic stroke. The ITGA2 gene C807T polymorphism may affect ischemic stroke through plasma lipid and lipoprotein levels.</p>
Assuntos
Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Isquemia Encefálica , Sangue , Genética , Metabolismo , LDL-Colesterol , Genética , Metabolismo , Predisposição Genética para Doença , Integrina alfa2 , Genética , Metabolismo , Integrina beta3 , Genética , Metabolismo , Metabolismo dos Lipídeos , Genética , Lipídeos , Sangue , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Objective To study the effect of glucocorticoid on serum interleukin(IL)-1,IL-6,transforming growth factor-?_1(TGF-?_1) and tumor necrosis factor alpha(TNF-?) in children with primary nephrotic syndrome(PNS).Methods The levels of cytokines on serum were compared in 3 different patho-type,and IL-1,IL-6,TGF-?_1 and TNF-? in serum were detected using enzyme-linked immunosorbent assay(ELISA) in 25 children with PNS before and after treatment with glucocorticoids.Results Significant difference of IL-1,IL-6,TGF-?_1 and TNF-? were found between the two group before and after the treatment(P0.05).The level of TGF-?_1 in MCD was lo-wer than that in MsPNG,FSGS before and after the treatment(P0.05),and the level of it in FSGS was higher than that in MsPNG after the treatment(P
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0.05).2.Two days after treatment,total protein(TP) and albumin(Alb) of hemotoplasma were significantly higher than before treatment(all P0.05).3.Toxic side effects: gastrointestinal reaction was seen in 20 cases ((52.63%)),reduction of WBC in 2 cases(5.26%),baldness in 38 cases(100%) and heart impairment in 1 case(2.63%).The sperm test and menstrual onset were normal in 18 cases,whose ages ≥ 8 years at beginning of treatment,who were clinically cured and whose ages ≥17 years at the time of last following up,7 of them who had married could have children.Conclusions Combining CTX(conti-)(nuous) stosstherapy with prednisone standard scheme treated the children in Zhuang nationality with NS,We could got a good curative effect.By using this treatment,not only the plasma TP and Alb level could be increased rapidly and the urine protein could be conversed to negative quickly.The accumulated amount of CTX was less than 80 mg/kg,but the treatment was safety in the recent term, and no impairment of sexual gland was seen at long-term following up.
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<p><b>OBJECTIVE</b>To examine the relationship between intercellular adhesion molecule-1 (ICAM-1) gene polymorphism and ischemic stroke (IS) in Chinese Zhuang populations.</p><p><b>METHODS</b>The K469E polymorphism in the exon 6 of ICAM-1 gene was detected by polymerase chain reaction-restriction fragment length polymorphism analysis and DNA sequencing in 205 patients with IS of Zhuang nationality and in 210 healthy controls, and the serum level of ICAM-1 was determined by enzyme-linked immunosorbent assay.</p><p><b>RESULTS</b>The IS group showed significantly higher serum levels of ICAM-1 than did the control group (P < 0.01). There was significant difference in frequencies of allele and genotype in K469E polymorphism between IS and control groups, respectively (P < 0.05). The K allele carriers had 1.424 times the risk of suffering from IS as compared with the E allele carriers (OR = 1.424, 95% CI: 1.071 - 1.894); the serum ICAM-1 level of E allele carriers was significantly higher than that of K allele carriers (501.24 +/- 139.56 ng/ml vs 475.17 +/- 118.35 ng/ml, P < 0.01).</p><p><b>CONCLUSION</b>There is an association between ICAM-1 gene K469E polymorphism and IS, and E allele may be a genetic risk factor of IS among Guangxi Zhuangs, in which the ICAM-1 E allele carriers may have up-regulated expression of ICAM-1 and hence are at a higher risk of ischemic stroke.</p>