Alzheimer's disease genes and autophagy

• The autophagy-related features and roles of AD-associated genes are reviewed.
• APP, Aβ, ADAM10, and tau are autophagy substrates.
• Presenilin, PICALM, clusterin, CD2AP, and ephrin A1 regulate autophagy through various mechanisms.

Autophagy is a process to degrade and recycle cellular constituents via the lysosome for regulating cellular homeostasis. Its dysfunction is now considered to be involved in many diseases, including neurodegenerative diseases. Many features reflecting autophagy impairment, such as autophagosome accumulation and lysosomal dysfunction, have been also revealed to be involved in Alzheimer's disease (AD). Recent genetic studies such as genome-wide association studies in AD have identified a number of novel genes associated with AD. Some of the identified genes have demonstrated dysfunction in autophagic processes in AD, while others remain under investigation. Since autophagy is strongly regarded to be one of the major pathogenic mechanisms of AD, it is necessary to review how the AD-associated genes are related to autophagy. We anticipate our current review to be a starting point for future studies regarding AD-associated genes and autophagy.This article is part of a Special Issue entitled SI:Autophagy.