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阿尔茨海默病的全基因组关联研究:成就与挑战。

Epigenome-wide association studies in Alzheimer's disease; achievements and challenges.

机构信息

Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Maastricht University, Maastricht, the Netherlands.

Division of Molecular Psychiatry, Laboratory of Translational Neuroscience, Center of Mental Health, Department of Psychiatry, University of Würzburg, Würzburg, Germany.

出版信息

Brain Pathol. 2020 Sep;30(5):978-983. doi: 10.1111/bpa.12880.

Abstract

Alzheimer's disease (AD) represents a devastating progressive neurodegenerative disease with a complex pathophysiology, affecting millions of people worldwide. Recent epigenome-wide association studies suggest a key role for epigenetic mechanisms in its development and course. Despite the fact that current evidence on the role of epigenetic dysregulation in aging and AD is convincing, the pioneering field of neuroepigenetics is still facing many challenges that need to be addressed to fundamentally increase our understanding about the underlying mechanisms of this neurodegenerative disorder. This perspective paper describes the current state of play for epigenetic research into AD and discusses how new methodological advances in the field of epigenetics and related data science disciplines could further spur the development of novel therapeutic agents and biomarker assays.

摘要

阿尔茨海默病(AD)是一种具有复杂病理生理学的破坏性进行性神经退行性疾病,影响着全球数以百万计的人。最近的全基因组关联研究表明,表观遗传机制在其发展和病程中起着关键作用。尽管目前关于表观遗传失调在衰老和 AD 中的作用的证据令人信服,但神经表观遗传学这一开创性领域仍然面临着许多需要解决的挑战,这些挑战需要解决,以从根本上增加我们对这种神经退行性疾病潜在机制的理解。本文描述了 AD 表观遗传学研究的现状,并讨论了该领域的新方法学进展以及相关数据科学学科如何进一步推动新型治疗药物和生物标志物检测方法的发展。

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