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哈钦森-吉尔福德早衰综合征:心血管表现及治疗

Hutchinson-Gilford progeria syndrome: Cardiovascular manifestations and treatment.

作者信息

Lian Jing, Du Linfang, Li Yang, Yin Yue, Yu Lu, Wang Shengwei, Ma Heng

机构信息

Medical School of Yan'an University, Yan'an, China.

School of Basic Medical Sciences, Shaanxi University of Chinese Medicine, Xianyang, Shaanxi, China.

出版信息

Mech Ageing Dev. 2023 Dec;216:111879. doi: 10.1016/j.mad.2023.111879. Epub 2023 Oct 11.

Abstract

Hutchinson-Gilford progeria syndrome (HGPS), also known as hereditary progeria syndrome, is caused by mutations in the LMNA gene and the expression of progerin, which causes accelerated aging and premature death, with most patients dying of heart failure or other cardiovascular complications in their teens. HGPS patients are able to exhibit cardiovascular phenotypes similar to physiological aging, such as extensive atherosclerosis, smooth muscle cell loss, vascular lesions, and electrical and functional abnormalities of the heart. It also excludes the traditional risk causative factors of cardiovascular disease, making HGPS a new model for studying aging-related cardiovascular disease. Here, we analyzed the pathogenesis and pathophysiological characteristics of HGPS and the relationship between HGPS and cardiovascular disease, provided insight into the molecular mechanisms of cardiovascular disease pathogenesis in HGPS patients and treatment strategies for this disease. Moreover, we summarize the disease models used in HGPS studies to improve our understanding of the pathological mechanisms of cardiovascular aging in HGPS patients.

摘要

哈钦森-吉尔福德早衰综合征(HGPS),也称为遗传性早衰综合征,由LMNA基因突变和早老蛋白的表达引起,导致加速衰老和过早死亡,大多数患者在十几岁时死于心力衰竭或其他心血管并发症。HGPS患者能够表现出与生理性衰老相似的心血管表型,如广泛的动脉粥样硬化、平滑肌细胞丢失、血管病变以及心脏的电和功能异常。它还排除了心血管疾病的传统风险致病因素,使HGPS成为研究衰老相关心血管疾病的新模型。在此,我们分析了HGPS的发病机制和病理生理特征以及HGPS与心血管疾病之间的关系,深入了解了HGPS患者心血管疾病发病的分子机制和该疾病的治疗策略。此外,我们总结了HGPS研究中使用的疾病模型,以增进我们对HGPS患者心血管衰老病理机制的理解。

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