阿尔茨海默病基因型与表型的相关性研究

H. L. Li, Bin Jiang, Zhi-Ying Wu
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引用次数: 0

摘要

阿尔茨海默病(AD)是痴呆症最常见的原因,它表现为记忆力和其他认知领域的逐渐下降。阿尔茨海默病的遗传是复杂和异质性的。大多数病例为“散发的迟发性”,然而,一小部分病例为早发性,通常在家庭中聚集。早期的研究表明,一些基因,包括罕见的突变和常见的多态性,在AD的发展中起着重要的作用。最近有人提出,遗传变异也可以解释临床表型的一些其他特征,如发病年龄、疾病持续时间、认知衰退、行为和精神症状等。在这篇综述中,我们比较了三种致病基因和一些常见多态性中报道的突变的临床表型,并强调了它们的异质性。希望单个突变的独特表型特征将使我们能够研究分子机制,潜在地解释表型差异,并为开发新的治疗药物提供有用的知识。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Correlation between Genotype and Phenotype of Alzheimer's Disease
Alzheimer’s disease (AD) is the most frequent cause of dementia, it manifests as a progressive decline in memory and other cognitive domains. The genetics of AD is complex and heterogeneous. Most cases are “sporadic late onset”, however, a small percentage of cases have an early onset and usually aggregate within families. Early studies revealed that a number of genes, including both rare mutations and common polymorphisms, play an important role in the development of AD. More recently it has been proposed that genetic variation may also explain some of the other features of clinical phenotype, such as age at onset, disease duration, cognitive decline, behavioral and psychiatric symptoms and so on. In this review, we compared the clinical phenotypes of reported mutations within the three causative genes and some common polymorphisms, with an emphasis on their heterogeneity. Hopefully, the unique phenotypic features of individual mutation will enable us to study molecular mechanisms, potentially explaining phenotypic differences and providing useful knowledge for the development of new therapeutic agents.
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