Biozentrum, University of Basel, Basel, Switzerland.
Biozentrum, University of Basel, Basel, Switzerland.
Vitam Horm. 2020;113:55-77. doi: 10.1016/bs.vh.2019.08.014. Epub 2019 Oct 18.
The antidiuretic hormone vasopressin is synthesized as a longer precursor protein. After folding in the endoplasmic reticulum (ER), provasopressin is transported through the secretory pathway, forms secretory granules in the trans-Golgi network (TGN), is processed, and finally secreted into the circulation. Mutations in provasopressin cause autosomal dominant diabetes insipidus. They prevent native protein folding and cause fibrillar, amyloid-like aggregation in the ER, which eventually results in cell death. Secretory granules of peptide hormones were proposed to constitute functional amyloids and thus might be the cause of amyloid formation of misfolded mutant protein in the ER. Indeed, the same two segments in the precursor-vasopressin and a C-terminal glycopeptide-were found to be responsible for pathological aggregation in the ER and physiological aggregation in granule formation in the TGN. Furthermore, even wild-type provasopressin tends to aggregate in the ER, but is controlled by ER-associated degradation. When essential components thereof, Sel1L or Hrd1, were inactivated, wild-type provasopressin accumulated as fibrillar aggregates in vasopressinergic neurons in mice, causing diabetes insipidus. Evolution of amyloidogenic sequences for granule formation thus made provasopressin dependent on ER quality control mechanisms. These principles may similarly apply to other peptide hormones.
抗利尿激素血管升压素作为一种较长的前体蛋白合成。在前血管升压素在粗面内质网(ER)中折叠后,通过分泌途径运输,在高尔基网络(TGN)中形成分泌颗粒,进行加工,最后分泌到循环中。前血管升压素的突变导致常染色体显性遗传的尿崩症。它们阻止天然蛋白质折叠,并在 ER 中引起纤维状、类淀粉样聚集,最终导致细胞死亡。肽激素的分泌颗粒被认为构成功能性淀粉样物质,因此可能是 ER 中错误折叠突变蛋白淀粉样形成的原因。事实上,在前体血管升压素和 C 末端糖肽中发现了相同的两个片段,负责 ER 中的病理性聚集和 TGN 中颗粒形成中的生理性聚集。此外,即使是野生型前血管升压素也容易在 ER 中聚集,但受到 ER 相关降解的控制。当必需成分 Sel1L 或 Hrd1 失活时,野生型前血管升压素在小鼠的血管加压素能神经元中积累为纤维状聚集体,导致尿崩症。因此,为了形成颗粒而进化出的淀粉样序列使前血管升压素依赖于 ER 质量控制机制。这些原则可能类似地适用于其他肽激素。