2016年1月4日 · PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant inherited disease, characterized by ventricular pre-excitation, supraventricular arrhythmias, and cardiac hypertrophy. It is frequently accompanied by chronotropic incompetence and advanced heart blocks, leading to premature pacemaker implantation.

PRKAG2心脏综合征是一种以心室预激、进行性传导系统疾病和心肌肥厚为主要临床表型的罕见的常染色体显性遗传病。 其发病由编码5′腺苷一磷酸活化蛋白激酶的γ2调节亚基的PRKAG2基因突变引起。 随着更多致病突变位点的发现以及研究方法的更新，PRKAG2心脏综合征的研究逐渐深入，该文对近年来PRKAG2心脏综合征发病机制和治疗方面的主要研究进展予以综述。 引用本文: 程为坡, 宋晓伟, 张必利. PRKAG2心脏综合征研究进展 [J] . 中华心血管病杂志, 2024, 52 (8) : …

2024年12月25日 · PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2) is a Protein Coding gene. Diseases associated with PRKAG2 include Wolff-Parkinson-White Syndrome and Glycogen Storage Disease Of Heart, Lethal Congenital. Among its related pathways are Selective autophagy and Gene expression (Transcription).

5'-AMP-activated protein kinase subunit gamma-2 is an enzyme that in humans is encoded by the PRKAG2 gene. [5] [6] [7]

PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant inherited disease, characterized by ventricular pre-excitation, supraventricular arrhythmias and cardiac hypertrophy. It is frequently accompanied by chronotropic incompetence and advanced heart blocks, leading to premature pacemaker (PM) implantation.

The PRKAG2 gene provides instructions for making one part (the gamma-2 subunit) of a larger enzyme called AMP-activated protein kinase (AMPK). This enzyme helps sense and respond to energy demands within cells. It is active in many different tissues, including heart (cardiac) muscle and muscles used for movement (skeletal muscles).

AMP 活化蛋白激酶 (AMPK) 是一种异源三聚体蛋白，由一个催化性 α 亚基、一个非催化性 β 亚基和一个非催化性调节性 γ 亚基组成。 这些亚基中的每一个都存在各种形式，由不同的基因编码。 AMPK 是一种重要的能量感应酶，它通过使参与调节脂肪酸和胆固醇从头生物合成的关键酶失活来监测细胞能量状态和功能。 该基因是 AMPK 伽马亚基家族的成员。 该基因的突变与 Wolff-Parkinson-White 综合征、家族性肥厚性心肌病和心脏糖原贮积病有关。 已经表征了编码不同 …

PRKAG2 syndrome is a progressive cardiomyopathy characterized by high rates of atrial fibrillation, conduction disease, advanced heart failure, and life-threatening arrhythmias. Classical features of pre-excitation and severe LVH are not uniformly present, and diagnosis should be considered in patients with LVH who develop atrial fibrillation ...

PRKAG2心脏综合征是以心室预激、进展性传导系统病变、心肌肥厚为主要表现的常染色体显性遗传性心脏病，由编码AMP激活蛋白激（AMP-activated protein kinase，AMPK）γ2亚单位的PRKAG2基因缺陷所致，发病人群少、临床表型多样，漏诊/误诊率高。近年随着分子遗传学发展 ...

2025年2月9日 · The role of the causative gene, gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase, in the regulation of the glucose metabolic pathway in muscle suggests that genetic defects in PRKAG2 may induce a cardiac glycogenosis syndrome.