心力衰竭是一组复杂的临床综合征,是各种心脏疾病的严重表现或终末阶段。随着全球人口老龄化的加剧,其发病率和死亡率逐年增加。心肌细胞的自噬在心力衰竭的发生和发展中起着重要的作用。溶酶体相关膜蛋白2(lysosomal-associated membra...心力衰竭是一组复杂的临床综合征,是各种心脏疾病的严重表现或终末阶段。随着全球人口老龄化的加剧,其发病率和死亡率逐年增加。心肌细胞的自噬在心力衰竭的发生和发展中起着重要的作用。溶酶体相关膜蛋白2(lysosomal-associated membrane protein 2,LAMP-2)基因编码的蛋白质是维持正常溶酶体功能的关键因子。近年来的研究发现,LAMP-2在心力衰竭中的异常表达与心脏功能下降密切相关。本综述将概述LAMP-2基因的结构和功能,并综合分析LAMP-2在心力衰竭中的研究进展,为深入理解和治疗心力衰竭提供理论基础。展开更多
Lysosome-associated membrane protein-2 deficiency （LAMP2 deficiency）, or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 f...Lysosome-associated membrane protein-2 deficiency （LAMP2 deficiency）, or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 families with mutations of the Lamp-2 gene have been reported. We describe a family from Sardinia with eight affected patients （4 females and 4 males） and a novel mutation in exon 2 of the Lamp-2 gene （c.102103delAG）. Females developed isolated cardiomyopathy in adulthood, whereas males presented with cardiomyopathy, myopathy, and mental retardation before the age of 20 years. Cardiomyopathy was lethal in three females in their 40s and in three males before the age 20 years. One patient was su ccessfully treated by heart transplantation with more than 5-year follow-up. T his study demonstrates that Danon disease is a frequently fatal condition that i s potentially treatable with heart transplantation.展开更多
Objective To investigate the role of lysosome-associated membrane protein type 2A (LAMP-2A) for immune-mediated liver injury of primary biliary cholangitis(PBC). Methods The association between LAMP-2A expression and ...Objective To investigate the role of lysosome-associated membrane protein type 2A (LAMP-2A) for immune-mediated liver injury of primary biliary cholangitis(PBC). Methods The association between LAMP-2A expression and PBC was examined by immunohistochemistry and electron microscopy in liver tissue samples from patients with PBC.展开更多
文摘心力衰竭是一组复杂的临床综合征,是各种心脏疾病的严重表现或终末阶段。随着全球人口老龄化的加剧,其发病率和死亡率逐年增加。心肌细胞的自噬在心力衰竭的发生和发展中起着重要的作用。溶酶体相关膜蛋白2(lysosomal-associated membrane protein 2,LAMP-2)基因编码的蛋白质是维持正常溶酶体功能的关键因子。近年来的研究发现,LAMP-2在心力衰竭中的异常表达与心脏功能下降密切相关。本综述将概述LAMP-2基因的结构和功能,并综合分析LAMP-2在心力衰竭中的研究进展,为深入理解和治疗心力衰竭提供理论基础。
文摘Lysosome-associated membrane protein-2 deficiency （LAMP2 deficiency）, or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 families with mutations of the Lamp-2 gene have been reported. We describe a family from Sardinia with eight affected patients （4 females and 4 males） and a novel mutation in exon 2 of the Lamp-2 gene （c.102103delAG）. Females developed isolated cardiomyopathy in adulthood, whereas males presented with cardiomyopathy, myopathy, and mental retardation before the age of 20 years. Cardiomyopathy was lethal in three females in their 40s and in three males before the age 20 years. One patient was su ccessfully treated by heart transplantation with more than 5-year follow-up. T his study demonstrates that Danon disease is a frequently fatal condition that i s potentially treatable with heart transplantation.
文摘Objective To investigate the role of lysosome-associated membrane protein type 2A (LAMP-2A) for immune-mediated liver injury of primary biliary cholangitis(PBC). Methods The association between LAMP-2A expression and PBC was examined by immunohistochemistry and electron microscopy in liver tissue samples from patients with PBC.
