痴呆症的分子基础

O. Szymanowicz, S. Pawlak, E. Potocka, U. Goutor, W. Kozubski, J. Dorszewska
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摘要

痴呆症是以记忆和认知功能衰退为特征的一系列症状。痴呆症包括阿尔茨海默病、路易体痴呆、额颞叶痴呆、血管性痴呆和混合性痴呆。这种疾病是一个不断升级的社会问题,尤其是在老年人口不断增加的社会中。2019 年,271998 人死于痴呆症,阿尔茨海默病成为第六大死亡原因。阿尔茨海默病的病理生理学十分复杂,尚未完全被人们所了解。这是一种多方面的疾病,其发病机制受到遗传、环境和生活方式等因素的综合影响。参与发病的基因之一是载脂蛋白 E(APOE)基因,它是阿尔茨海默病最常见的风险因素之一。其他基因,包括早老素基因(PSEN1 和 PSEN2)、TREM2 基因、MAPT 基因和 APP 基因,与各种形式的痴呆症有关,其重要性也得到了强调。另一个问题是,在与痴呆症发病有关的基因中,已发现的基因变异越来越多。痴呆症的特征还包括大脑中的化学变化,包括异常兴奋性蛋白的积累、不同程度的炎症和代谢紊乱。本综述总结了当前痴呆症领域的研究,并强调了分子因素在痴呆症发病机制中的重要作用。深入了解痴呆症的发病机制可加快疾病的诊断速度,并有助于制定更有效的患者护理计划。
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Molecular basis of dementia
Dementia is a set of symptoms characterized by deterioration of memory and cognitive functions. Dementia diseases include Alzheimer's disease, dementia with Lewy bodies, frontotemporal dementia, vascular dementia, and mixed dementia. This disease represents an escalating social issue, particularly in a society with an increasing elderly population. In 2019, 271,998 people succumbed to dementia, making Alzheimer's disease the sixth most prevalent cause of death. The pathophysiology of Alzheimer's disease is complex and not fully understood. It is a multifaceted disease, with its pathogenesis influenced by a combination of genetic, environmental, and lifestyle factors. One of the genes involved in the pathogenesis of the disease is the apolipoprotein E (APOE) gene, which is one of the most common risk factors for Alzheimer's disease. The significance of other genes, including presenilin genes (PSEN1 and PSEN2), the TREM2 gene, the MAPT gene, and the APP gene, linked to various forms of dementia, is also emphasized. Another issue is the growing number of identified genetic variants within genes implicated in the onset of dementia. Dementia diseases are also characterized by chemical alterations in the brain, including the accumulation of abnormal excitotoxic proteins, varying degrees of inflammation, and metabolic disorders. This review summarizes current research in the field of dementia and highlights the significance of molecular factors in its pathogenesis. Gaining insight into the pathogenic mechanisms of dementia may allow for faster diagnosis of the disease and facilitate the creation of more efficient patient care plans.
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