Autophagy degrades the cytoplasmic contents engulfed by autophagosomes. Besides providing energy and building blocks during starvation via random degradation, autophagy selectively targets cytotoxic components to prevent a wide range of diseases. This preventive activity of autophagy is supported by many studies using animal models and reports identifying several mutations in autophagy-related genes that are associated with human genetic disorders, which have been published in the past decade. Here, we summarize the molecular mechanisms of autophagosome biogenesis involving the proteins responsible for these genetic disorders, demonstrating a role for autophagy in human health. These findings will help elucidate the underlying mechanisms of autophagy-related diseases and develop future medications.

自噬降解被自噬体吞噬的细胞质内容物。除了在饥饿期间通过随机降解提供能量和构建模块之外，自噬还选择性地针对细胞毒性成分来预防多种疾病。自噬的这种预防活性得到了许多使用动物模型的研究的支持，并报告确定了与人类遗传性疾病相关的自噬相关基因的几种突变，这些突变已在过去十年中发表。在这里，我们总结了涉及导致这些遗传性疾病的蛋白质的自噬体生物发生的分子机制，证明了自噬在人类健康中的作用。这些发现将有助于阐明自噬相关疾病的潜在机制并开发未来的药物。