Genetics of Neurodegenerative Disorders Unit, Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain.
CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Research Center and Memory Clinic, Fundació ACE. Institut Català de Neurociències Aplicades-Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
Neuropharmacology. 2020 May 15;168:108014. doi: 10.1016/j.neuropharm.2020.108014. Epub 2020 Feb 17.
Molecular genetics has been an invaluable tool to help understand the molecular basis of neurodegenerative dementias. In this review, we provide an overview of the genetic architecture underlying some of the most prevalent causes of dementia, including Alzheimer's dementia, frontotemporal lobar degeneration, Lewy body dementia, and prion diseases. We also discuss the complexity of the human genome and how the novel technologies have revolutionized and accelerated the way we screen the variety of our DNA. Finally, we also provide some examples about how this genetic knowledge is being transferred into the clinic through personalized medicine. This article is part of the special issue entitled 'The Quest for Disease-Modifying Therapies for Neurodegenerative Disorders'.
分子遗传学一直是帮助理解神经退行性痴呆症分子基础的宝贵工具。在这篇综述中，我们概述了一些最常见的痴呆症病因（包括阿尔茨海默病、额颞叶变性、路易体痴呆和朊病毒病）的遗传结构。我们还讨论了人类基因组的复杂性以及新技术如何彻底改变和加速我们筛选各种 DNA 的方式。最后，我们还提供了一些例子，说明这种遗传知识如何通过个性化医疗转化为临床实践。本文是特刊“神经退行性疾病治疗方法的探索”的一部分。
