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
The global outbreak of coronavirus disease 19(COVID-19),caused by severe acute respiratory syndrome coronavirus 2(SARS-Co V-2),has raised significant global apprehension.Developing a rapid,efficient,sensitive,and accu...The global outbreak of coronavirus disease 19(COVID-19),caused by severe acute respiratory syndrome coronavirus 2(SARS-Co V-2),has raised significant global apprehension.Developing a rapid,efficient,sensitive,and accurate point-of-care detection method is imperative for curbing SARS-Co V-2 transmission.Here,we screened a sequence,designed a set of highly sensitive loopmediated isothermal amplification primers(LAMP)and g RNA,and developed a user-friendly detection platform combining CRISPRCas12a and RT-LAMP technology to specifically detect SARS-Co V-2 and its 5 variants.Bioinformatics analysis and Cas12a-g RNA identification ensured sequence specificity,allowing us to identify SARS-Co V-2 mutations.We developed a method for the detection of SARSCoV-2 using these primers in combination with LAMP amplification and CRISPR-Cas12a technology.This method is designed to detect SARS-CoV-2(NC_045512),Alpha(B.1.1.7),Beta(B.1.351),Gamma(P.1),Delta(B.1.617.2)and Omicron(B.1.1.529).Additionally,it can differentiate SARS-CoV-2 from other coronaviruses.Quantitative analysis can be conducted by measuring fluorescence values,while qualitative analysis can be performed by observing fluorescence color point-of-care diagnosis changes with the naked eye.These results suggest that a set of novel sensitive LAMP primers and g RNA have been obtained to detect the extensive variants,and the RT-LAMPCRISPR-Cas12a platform significantly facilitates point-of-care diagnosis,thereby halting the spread of SARS-Co V-2,thus contributing to COVID-19 prevention and control.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.
基金Supported by the National Natural Sciences Foundation of China(52073022)the Fundamental Research Funds for the Central Universities of China and the Translational Medical Research Fund of Wuhan University Taikang Medical School(School of Basic Medical Sciences)the Key Laboratory of Environmental Pollution Monitoring and Disease Control(Guizhou Medical University)Ministry of Education(GMU-2022-HJZ)。
文摘The global outbreak of coronavirus disease 19(COVID-19),caused by severe acute respiratory syndrome coronavirus 2(SARS-Co V-2),has raised significant global apprehension.Developing a rapid,efficient,sensitive,and accurate point-of-care detection method is imperative for curbing SARS-Co V-2 transmission.Here,we screened a sequence,designed a set of highly sensitive loopmediated isothermal amplification primers(LAMP)and g RNA,and developed a user-friendly detection platform combining CRISPRCas12a and RT-LAMP technology to specifically detect SARS-Co V-2 and its 5 variants.Bioinformatics analysis and Cas12a-g RNA identification ensured sequence specificity,allowing us to identify SARS-Co V-2 mutations.We developed a method for the detection of SARSCoV-2 using these primers in combination with LAMP amplification and CRISPR-Cas12a technology.This method is designed to detect SARS-CoV-2(NC_045512),Alpha(B.1.1.7),Beta(B.1.351),Gamma(P.1),Delta(B.1.617.2)and Omicron(B.1.1.529).Additionally,it can differentiate SARS-CoV-2 from other coronaviruses.Quantitative analysis can be conducted by measuring fluorescence values,while qualitative analysis can be performed by observing fluorescence color point-of-care diagnosis changes with the naked eye.These results suggest that a set of novel sensitive LAMP primers and g RNA have been obtained to detect the extensive variants,and the RT-LAMPCRISPR-Cas12a platform significantly facilitates point-of-care diagnosis,thereby halting the spread of SARS-Co V-2,thus contributing to COVID-19 prevention and control.
