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首页> 外文期刊>Journal of Alzheimer's disease: JAD >Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia
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Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia

机译:遗传学和表观生物学在阿尔茨海默病和额发态痴呆的发病机制中的作用

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摘要

Alzheimer's disease (AD) and frontotemporal dementia (FTD) represent the first cause of dementia in senile and pre-senile population, respectively. A percentage of cases have a genetic cause, inherited with an autosomal dominant pattern of transmission. The majority of cases, however, derive from complex interactions between a number of genetic and environmental factors. Gene variants may act as risk or protective factors. Their combination with a variety of environmental exposures may result in increased susceptibility to these diseases or may influence their course. The scenario is even more complicated considering the effect of epigenetics, which encompasses mechanisms able to alter the expression of genes without altering the DNA sequence. In this review, an overview of the current genetic and epigenetic progresses in AD and FTD will be provided, with particular focus on 1) causative genes, 2) genetic risk factors and disease modifiers, and 3) epigenetics, including methylation, non-coding RNAs and chromatin remodeling.
机译:阿尔茨海默病的疾病(AD)和额定催眠痴呆(FTD)分别代表了老年人和患者患有痴呆症的第一个原因。百分比的病例具有遗传原因,遗传性常染色体的透射模式。然而,大多数情况下,来自许多遗传和环境因素之间的复杂相互作用。基因变异可以充当风险或保护因素。它们与各种环境暴露的组合可能导致对这些疾病的敏感性增加,或者可能影响他们的课程。考虑到表观遗传学的效果,这种情况甚至更加复杂,这包括能够改变基因表达而不改变DNA序列的机制。在本次审查中,将提供AD和FTD的当前遗传和表观遗传进展的概述,特别关注1)致病基因,2)遗传危险因素和疾病改性剂,以及包括甲基化,非编码的表观危险因素和疾病改性剂RNA和染色质重塑。

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