自噬基因的生物学功能：疾病视角。
Biological Functions of Autophagy Genes: A Disease Perspective.
机构信息
Center for Autophagy Research, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Microbiology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Equipe 11 labellisée par la Ligue contre le Cancer, Centre de Recherche des Cordeliers, 75006 Paris, France; Cell Biology and Metabolomics platforms, Gustave Roussy Cancer Campus, 94805 Villejuif, France; INSERM, U1138, 75006 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 75006 Paris, France; Université Pierre et Marie Curie, Sorbonne Université, 75006 Paris, France; Pôle de Biologie, Hôpital Européen Georges Pompidou, AP-HP, 75015 Paris, France; Karolinska Institute, Department of Women's and Children's Health, Karolinska University Hospital, 17176 Stockholm, Sweden.
出版信息
Cell. 2019 Jan 10;176(1-2):11-42. doi: 10.1016/j.cell.2018.09.048.
The lysosomal degradation pathway of autophagy plays a fundamental role in cellular, tissue, and organismal homeostasis and is mediated by evolutionarily conserved autophagy-related (ATG) genes. Definitive etiological links exist between mutations in genes that control autophagy and human disease, especially neurodegenerative, inflammatory disorders and cancer. Autophagy selectively targets dysfunctional organelles, intracellular microbes, and pathogenic proteins, and deficiencies in these processes may lead to disease. Moreover, ATG genes have diverse physiologically important roles in other membrane-trafficking and signaling pathways. This Review discusses the biological functions of autophagy genes from the perspective of understanding-and potentially reversing-the pathophysiology of human disease and aging.
自噬的溶酶体降解途径在细胞、组织和机体的动态平衡中起着至关重要的作用，其由进化保守的自噬相关（ATG）基因介导。控制自噬的基因突变与人类疾病，特别是神经退行性疾病、炎症性疾病和癌症之间存在明确的病因联系。自噬选择性地靶向功能失调的细胞器、细胞内微生物和致病蛋白，这些过程的缺陷可能导致疾病。此外，ATG 基因在其他膜运输和信号通路中具有多种生理上重要的作用。本综述从理解（并可能逆转）人类疾病和衰老的病理生理学的角度讨论了自噬基因的生物学功能。
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