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
PRKAG2 cardiac syndrome(PS)is a rare inherited disease due to PRKAG2 gene mutation and characterized by Wolff-Parkinson-White syndrome(WPWs),conduction system lesions and myocardial hypertrophy.It can also lead to ser...PRKAG2 cardiac syndrome(PS)is a rare inherited disease due to PRKAG2 gene mutation and characterized by Wolff-Parkinson-White syndrome(WPWs),conduction system lesions and myocardial hypertrophy.It can also lead to serious consequences,such as sudden death.But the genetic and clinical heterogeneity makes the early diagnosis of PS difficult.Here we studied a family with familial hypertrophic cardiomyopathy and other diverse manifestations.Gene analysis identified a missense mutation(Arg302Gln)in the five affected subjects of the family.The electrocardiograph performance of the five was composed of sinus bradycardia(SB),WPWs,right bundle branch block(RBBB),atrioventricular block(AVB),left bundle branch block(LBBB),supraventricular tachycardia(SVT)and atrial premature beat(APB).Among them,the youngest one began to show paroxysmal palpitation at the age of nine and was confirmed to have WPWs at 17 years old;two members progressed over time to serious conduction damage,and the proband received a pacemaker at the age of 27 due to AVB.Besides,according to cardiac magnetic resonance and echocardiography,the youngest one showed symmetric hypertrophy;three older members showed asymmetric myocardial hypertrophy characterized with a diffuse pattern of middle-anterior-lateral-inferior wall hypertrophy and especially interventricular septal hypertrophy;all five affected patients showed atrial enlargement regardless of myocardial hypertrophy at an earlier stage.In conclusion,the conduction system disorder,familial atrial enlargement and symmetric cardiac hypertrophy may occur in the early stage of PRKAG2 R302Q mutation.展开更多
文摘PRKAG2 cardiac syndrome(PS)is a rare inherited disease due to PRKAG2 gene mutation and characterized by Wolff-Parkinson-White syndrome(WPWs),conduction system lesions and myocardial hypertrophy.It can also lead to serious consequences,such as sudden death.But the genetic and clinical heterogeneity makes the early diagnosis of PS difficult.Here we studied a family with familial hypertrophic cardiomyopathy and other diverse manifestations.Gene analysis identified a missense mutation(Arg302Gln)in the five affected subjects of the family.The electrocardiograph performance of the five was composed of sinus bradycardia(SB),WPWs,right bundle branch block(RBBB),atrioventricular block(AVB),left bundle branch block(LBBB),supraventricular tachycardia(SVT)and atrial premature beat(APB).Among them,the youngest one began to show paroxysmal palpitation at the age of nine and was confirmed to have WPWs at 17 years old;two members progressed over time to serious conduction damage,and the proband received a pacemaker at the age of 27 due to AVB.Besides,according to cardiac magnetic resonance and echocardiography,the youngest one showed symmetric hypertrophy;three older members showed asymmetric myocardial hypertrophy characterized with a diffuse pattern of middle-anterior-lateral-inferior wall hypertrophy and especially interventricular septal hypertrophy;all five affected patients showed atrial enlargement regardless of myocardial hypertrophy at an earlier stage.In conclusion,the conduction system disorder,familial atrial enlargement and symmetric cardiac hypertrophy may occur in the early stage of PRKAG2 R302Q mutation.
