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首页> 外文期刊>Degenerative Neurological and Neuromuscular Disease >Apolipoprotein E ε-4 as a genetic determinant of Alzheimer’s disease heterogeneity
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Apolipoprotein E ε-4 as a genetic determinant of Alzheimer’s disease heterogeneity

机译：载脂蛋白Eε-4是阿尔茨海默氏病异质性的遗传决定因素

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Abstract: Alzheimer’s disease (AD) displays a high degree of heterogeneity in terms of its etiology, presentation, prognosis, and treatment response. This can partly be explained by high-penetrance mutations in the amyloid precursor protein, presenilin 1 and presenilin 2 genes causing amyloid beta aggregation, which is a major pathogenic mechanism in the development of early-onset AD in a small subgroup of patients. Late-onset AD is considered a polygenic disorder in which cumulative risk resulting from interaction with modifiable environmental risk factors may be responsible for the majority of cases. The ε-4 allele of the apolipoprotein E (APOE) gene has emerged as the most significant genetic risk factor for late-onset AD, influencing nearly every pathogenic domain affected in AD. It is a major risk factor for cerebral amyloid angiopathy, recognized as a common pathological finding in an AD subtype associated with white matter dysfunction. The APOE ε-4 allele is also a known risk factor for ischemic stroke, which can result in vascular dementia or contribute to subcortical vascular dysfunction. In this review, we evaluate the clinical relevance of APOE genotyping in relation to cholesterol metabolism and available evidence on risk reduction strategies applicable to AD.
机译：摘要：阿尔茨海默氏病（AD）在病因，表现，预后和治疗反应方面均表现出高度异质性。部分原因可以由淀粉样蛋白前体蛋白presenilin 1和presenilin 2基因的高渗透性突变引起淀粉样蛋白β聚集引起，这是一小部分患者早期AD发生的主要致病机制。晚期AD被认为是一种多基因疾病，其中与可改变的环境风险因素相互作用而引起的累积风险可能是大多数病例的原因。载脂蛋白E（APOE）基因的ε-4等位基因已成为晚期AD的最重要遗传危险因素，几乎影响了AD中受影响的每个致病域。它是脑淀粉样血管病的主要危险因素，被认为是与白质功能障碍相关的AD亚型的常见病理发现。 APOEε-4等位基因也是缺血性中风的已知危险因素，它可能导致血管性痴呆或导致皮层下血管功能障碍。在这篇综述中，我们评估了与胆固醇代谢相关的APOE基因分型的临床相关性以及适用于AD的降低风险策略的现有证据。

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