Autophagy Diseases
Autophagy is a major intracellular degradative process that delivers cytoplasmic materials to the lysosome for degradation. Since the discovery of autophagy-related (Atg) genes in the 1990s, there has been a proliferation of studies on the physiological and pathological roles of autophagy in a variety of autophagy knockout models. However, direct evidence of the connections between ATG
gene dysfunction and human diseases has emerged only recently. There are an increasing number of reports showing that
mutations in the ATG genes were identified in various human diseases such as
neurodegenerative diseases, infectious diseases, and cancers. Here, we review the major advances in identification of
mutations or polymorphisms of the ATG genes in human diseases. Current autophagy-modulating compounds in clinical trials are also summarized.Half a century ago, Christian de Duve coined the term “autophagy” to describe a process where the cell digests its cytoplasmic materials within lysosomes. At least three major types of autophagy have been identified: macroautophagy, characterized by the formation of a unique double-membrane organelle called the autophagosome; microautophagy, where lysosomes engulf cytoplasmic materials by inward invagination of the lysosomal membrane; and chaperone-mediated autophagy, mediated by the chaperone hsc70, co-chaperones, and the lysosomal-associated membrane protein type 2A2, This review focuses on the role of macroautophagy (hereafter referred to as autophagy) in human diseases.
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