目的:探讨PRKAG2心脏综合征中R302Q突变对心肌细胞糖原和钙离子稳态的影响。方法:用表达增强型绿色荧光蛋白(enhanced green fluorescent protein,EGFP)、PRKAG2-WT、PRKAG2-R302Q的腺病毒感染大鼠H9C2心肌细胞,同时设正常对照组。感染2...目的:探讨PRKAG2心脏综合征中R302Q突变对心肌细胞糖原和钙离子稳态的影响。方法:用表达增强型绿色荧光蛋白(enhanced green fluorescent protein,EGFP)、PRKAG2-WT、PRKAG2-R302Q的腺病毒感染大鼠H9C2心肌细胞,同时设正常对照组。感染24 h和48 h后,采用过碘酸–雪夫(Periodic acid-Schiff,PAS)染色法进行糖原染色,观察心肌细胞的糖原贮积;采用酶联免疫吸附试验(ELISA)法检测细胞内糖原含量;同时用Rohd-2/AM活体染料进行钙离子染色,然后采用流式细胞术分析钙离子库信号差异。结果:EGFP组与对照组糖原染色和含量结果无明显差别;PRKAG2-WT组糖原染色和含量略微增强;PRKAG2-R302Q组糖原染色和含量明显增强。各组的钙离子稳态并未受到影响。结论:PRKAG2心脏综合征中R302Q突变导致心肌细胞内糖原贮积,而钙离子稳态并未受到影响,没有钙超载现象发生。展开更多
Wilson disease is an hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene, and leading to hepatic or neurologic disease. We examined whether H1069Q, the most common ATP7B mutation, is associ...Wilson disease is an hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene, and leading to hepatic or neurologic disease. We examined whether H1069Q, the most common ATP7B mutation, is associated with a specific phenotype. Genotyping results in 70 Dutch patients were related to clinical presentation. Subsequently a meta-analysis for genotype-phenotype correlation was performed on all patients available from literature, combined with the current Dutch group, a total of 577 patients. The Dutch patients homozygous or heterozygous for the H1069Q mutation presented more frequently with neurologic disease (63%and 43%vs. 15%), and at a later age (20.9 and 15.9 vs. 12.6 years) than patients without the H1069Q mutation. In the meta-analysis the odds-ratio for neurologic presentation in homozygous or heterozygous H1069Q vs. non-H1069Q patients was 3.50 (95%CI 2.01-6.09) and 2.13 (95%CI 1.18-3.83), respectively. Age at presentation was 21.1, 19.2 and 16.5 years, respectively, corresponding to a weighted mean difference (WMD) of 4.41 (95%CI 1.56-7.26) for homozygous H1069Q vs. heterozygous patients and 6.68 (95%CI 4.33-9.38) for homozygous H1069Q vs. non-H1069Q patients. Our results indicate that the H1069Q mutation is associated with a late and neurologic presentation.展开更多
A new structure with the special property that catastrophes is imposed to ordinary Birth_Death processes is considered. The necessary and sufficient conditions of stochastically monotone, Feller and symmetric properti...A new structure with the special property that catastrophes is imposed to ordinary Birth_Death processes is considered. The necessary and sufficient conditions of stochastically monotone, Feller and symmetric properties for the extended birth_death processes with catastrophes are obtained.展开更多
文摘Wilson disease is an hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene, and leading to hepatic or neurologic disease. We examined whether H1069Q, the most common ATP7B mutation, is associated with a specific phenotype. Genotyping results in 70 Dutch patients were related to clinical presentation. Subsequently a meta-analysis for genotype-phenotype correlation was performed on all patients available from literature, combined with the current Dutch group, a total of 577 patients. The Dutch patients homozygous or heterozygous for the H1069Q mutation presented more frequently with neurologic disease (63%and 43%vs. 15%), and at a later age (20.9 and 15.9 vs. 12.6 years) than patients without the H1069Q mutation. In the meta-analysis the odds-ratio for neurologic presentation in homozygous or heterozygous H1069Q vs. non-H1069Q patients was 3.50 (95%CI 2.01-6.09) and 2.13 (95%CI 1.18-3.83), respectively. Age at presentation was 21.1, 19.2 and 16.5 years, respectively, corresponding to a weighted mean difference (WMD) of 4.41 (95%CI 1.56-7.26) for homozygous H1069Q vs. heterozygous patients and 6.68 (95%CI 4.33-9.38) for homozygous H1069Q vs. non-H1069Q patients. Our results indicate that the H1069Q mutation is associated with a late and neurologic presentation.
文摘A new structure with the special property that catastrophes is imposed to ordinary Birth_Death processes is considered. The necessary and sufficient conditions of stochastically monotone, Feller and symmetric properties for the extended birth_death processes with catastrophes are obtained.
