AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent...AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D <= spherical refraction <= -8.00 D) and 100 sex -matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy -Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.展开更多
Subject Code:C05With the support by the National Natural Science Foundation of China,the research team led by Prof.Gao Song(高嵩)from the State Key Laboratory of Oncology in South China,Sun Yat-sen University Cancer C...Subject Code:C05With the support by the National Natural Science Foundation of China,the research team led by Prof.Gao Song(高嵩)from the State Key Laboratory of Oncology in South China,Sun Yat-sen University Cancer Center,Guangzhou,recently reported the molecular mechanism of mitochondrial tethering by dynamin-related GTPase MFN1upon GTP binding and hydrolysis,in Nature(2017,542:372—376).展开更多
目的探讨金雀根和黄芪配伍对糖尿病肾病(DKD)大鼠的影响。方法将SD大鼠随机分为正常组、模型组、恩格列净组、金雀根组、黄芪组、配伍组,每组10只。采用单侧切除肾脏联合腹腔注射链脲佐菌素(STZ)复制DKD大鼠模型,造模成功后灌胃相应剂...目的探讨金雀根和黄芪配伍对糖尿病肾病(DKD)大鼠的影响。方法将SD大鼠随机分为正常组、模型组、恩格列净组、金雀根组、黄芪组、配伍组,每组10只。采用单侧切除肾脏联合腹腔注射链脲佐菌素(STZ)复制DKD大鼠模型,造模成功后灌胃相应剂量药物8周。第0、4、8周检测24 h尿微量白蛋白(24 h U-mALB);ELISA法检测Scr、BUN、CysC、MDA水平及SOD活性;荧光探针法检测肾组织ROS表达;HE、PAS、Masson、PASM-Masson染色观察肾组织病理结构改变;免疫组织化学法检测肾组织NOX4、Drp1、MFN2、P62表达;Western blot法检测肾组织PINK1、MFN2、Parkin、LC3-Ⅱ/Ⅰ、P62、p-Drp1蛋白表达。结果与模型组比较,各给药组大鼠24 h U-mALB、BUN、Scr、CysC水平均降低(P<0.01),肾组织病理性结构损伤改善;血清和组织MDA水平降低(P<0.01),SOD活性升高(P<0.01);肾组织PINK1、MFN2、Parkin、LC3-Ⅱ/Ⅰ蛋白表达升高(P<0.05,P<0.01),p-Drp1、P62蛋白表达降低(P<0.01),其中配伍组作用优于单用药组(P<0.05,P<0.01)。结论金雀根和黄芪配伍可能是通过调控PINK1/MFN2/Parkin通路改善线粒体动力学,激活线粒体自噬,抑制氧化应激,减轻肾脏病理损伤,改善DKD大鼠肾功能。展开更多
基金Supported by National Natural Science Foundation of China (No.81341105)Sichuan Provincial Health Department (No.120442)
文摘AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D <= spherical refraction <= -8.00 D) and 100 sex -matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy -Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.
文摘Subject Code:C05With the support by the National Natural Science Foundation of China,the research team led by Prof.Gao Song(高嵩)from the State Key Laboratory of Oncology in South China,Sun Yat-sen University Cancer Center,Guangzhou,recently reported the molecular mechanism of mitochondrial tethering by dynamin-related GTPase MFN1upon GTP binding and hydrolysis,in Nature(2017,542:372—376).
文摘目的探讨金雀根和黄芪配伍对糖尿病肾病(DKD)大鼠的影响。方法将SD大鼠随机分为正常组、模型组、恩格列净组、金雀根组、黄芪组、配伍组,每组10只。采用单侧切除肾脏联合腹腔注射链脲佐菌素(STZ)复制DKD大鼠模型,造模成功后灌胃相应剂量药物8周。第0、4、8周检测24 h尿微量白蛋白(24 h U-mALB);ELISA法检测Scr、BUN、CysC、MDA水平及SOD活性;荧光探针法检测肾组织ROS表达;HE、PAS、Masson、PASM-Masson染色观察肾组织病理结构改变;免疫组织化学法检测肾组织NOX4、Drp1、MFN2、P62表达;Western blot法检测肾组织PINK1、MFN2、Parkin、LC3-Ⅱ/Ⅰ、P62、p-Drp1蛋白表达。结果与模型组比较,各给药组大鼠24 h U-mALB、BUN、Scr、CysC水平均降低(P<0.01),肾组织病理性结构损伤改善;血清和组织MDA水平降低(P<0.01),SOD活性升高(P<0.01);肾组织PINK1、MFN2、Parkin、LC3-Ⅱ/Ⅰ蛋白表达升高(P<0.05,P<0.01),p-Drp1、P62蛋白表达降低(P<0.01),其中配伍组作用优于单用药组(P<0.05,P<0.01)。结论金雀根和黄芪配伍可能是通过调控PINK1/MFN2/Parkin通路改善线粒体动力学,激活线粒体自噬,抑制氧化应激,减轻肾脏病理损伤,改善DKD大鼠肾功能。
