Martinez-Feduchi Paula, Jin Peng, Yao Bing
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States.
Front Mol Neurosci. 2024 Apr 25;17:1398026. doi: 10.3389/fnmol.2024.1398026. eCollection 2024.
Alzheimer's disease (AD) is a complex neurodegenerative disorder and the most common form of dementia. There are two main types of AD: familial and sporadic. Familial AD is linked to mutations in amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2). On the other hand, sporadic AD is the more common form of the disease and has genetic, epigenetic, and environmental components that influence disease onset and progression. Investigating the epigenetic mechanisms associated with AD is essential for increasing understanding of pathology and identifying biomarkers for diagnosis and treatment. Chemical covalent modifications on DNA and RNA can epigenetically regulate gene expression at transcriptional and post-transcriptional levels and play protective or pathological roles in AD and other neurodegenerative diseases.
阿尔茨海默病(AD)是一种复杂的神经退行性疾病,也是最常见的痴呆形式。AD主要有两种类型:家族性和散发性。家族性AD与淀粉样前体蛋白(APP)、早老素-1(PSEN1)和早老素-2(PSEN2)的突变有关。另一方面,散发性AD是该疾病更常见的形式,具有影响疾病发生和进展的遗传、表观遗传和环境因素。研究与AD相关的表观遗传机制对于增进对病理的理解以及识别诊断和治疗的生物标志物至关重要。DNA和RNA上的化学共价修饰可以在转录和转录后水平上对基因表达进行表观遗传调控,并在AD和其他神经退行性疾病中发挥保护或病理作用。