Department of Ophthalmology, Clinical Hospital Dubrava, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.
Department of Biology and Genetics, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.
Int J Mol Sci. 2024 Jul 2;25(13):7271. doi: 10.3390/ijms25137271.
Alzheimer's disease (AD) represents a prominent neurodegenerative disorder (NDD), accounting for the majority of dementia cases worldwide. In addition to memory deficits, individuals with AD also experience alterations in the visual system. As the retina is an extension of the central nervous system (CNS), the loss in retinal ganglion cells manifests clinically as decreased visual acuity, narrowed visual field, and reduced contrast sensitivity. Among the extensively studied retinal disorders, age-related macular degeneration (AMD) shares numerous aging processes and risk factors with NDDs such as cognitive impairment that occurs in AD. Histopathological investigations have revealed similarities in pathological deposits found in the retina and brain of patients with AD and AMD. Cellular aging processes demonstrate similar associations with organelles and signaling pathways in retinal and brain tissues. Despite these similarities, there are distinct genetic backgrounds underlying these diseases. This review comprehensively explores the genetic similarities and differences between AMD and AD. The purpose of this review is to discuss the parallels and differences between AMD and AD in terms of pathophysiology, genetics, and epigenetics.
阿尔茨海默病(AD)是一种主要的神经退行性疾病(NDD),占全球痴呆症病例的大多数。除了记忆缺陷,AD 患者的视觉系统也会发生变化。由于视网膜是中枢神经系统(CNS)的延伸,因此视网膜神经节细胞的丧失在临床上表现为视力下降、视野变窄和对比敏感度降低。在广泛研究的视网膜疾病中,年龄相关性黄斑变性(AMD)与 NDD 如 AD 中的认知障碍共享许多衰老过程和风险因素。组织病理学研究表明,AD 和 AMD 患者的视网膜和大脑中发现的病理性沉积物存在相似之处。细胞衰老过程与视网膜和脑组织中的细胞器和信号通路存在相似的关联。尽管存在这些相似之处,但这些疾病的遗传背景存在明显差异。本综述全面探讨了 AMD 和 AD 之间的遗传相似性和差异。本综述的目的是讨论 AMD 和 AD 在病理生理学、遗传学和表观遗传学方面的相似之处和不同之处。