Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
Neurology Service, VA Ann Arbor Healthcare System, Ann Arbor, MI 48105, USA.
Int J Mol Sci. 2022 Mar 27;23(7):3671. doi: 10.3390/ijms23073671.
Cysteine oxidation states of extracellular proteins participate in functional regulation and in disease pathophysiology. In the most common inherited dementia, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), mutations in NOTCH3 that alter extracellular cysteine number have implicated NOTCH3 cysteine states as potential triggers of cerebral vascular smooth muscle cytopathology. In this report, we describe a novel property of the second EGF-like domain of NOTCH3: its capacity to alter the cysteine redox state of the NOTCH3 ectodomain. Synthetic peptides corresponding to this sequence (NOTCH3 N-terminal fragment 2, NTF2) readily reduce NOTCH3 N-terminal ectodomain polypeptides in a dose- and time-dependent fashion. Furthermore, NTF2 preferentially reduces regional domains of NOTCH3 with the highest intensity against EGF-like domains 12-15. This process requires cysteine residues of NTF2 and is also capable of targeting selected extracellular proteins that include TSP2 and CTSH. CADASIL mutations in NOTCH3 increase susceptibility to NTF2-facilitated reduction and to trans-reduction by NOTCH3 produced in cells. Moreover, NTF2 forms complexes with the NOTCH3 ectodomain, and cleaved NOTCH3 co-localizes with the NOTCH3 ectodomain in cerebral arteries of CADASIL patients. The potential for NTF2 to reduce vascular proteins and the enhanced preference for it to trans-reduce mutant NOTCH3 implicate a role for protein trans-reduction in cerebrovascular pathological states such as CADASIL.
细胞外蛋白的半胱氨酸氧化状态参与功能调节和疾病病理生理学。在最常见的遗传性痴呆症——伴有皮质下梗死和白质脑病的脑常染色体显性动脉病(CADASIL)中,改变细胞外半胱氨酸数量的 NOTCH3 突变暗示 NOTCH3 半胱氨酸状态可能是脑血管平滑肌细胞病变的潜在触发因素。在本报告中,我们描述了 NOTCH3 第二个表皮生长因子样结构域的一个新特性:它改变 NOTCH3 细胞外结构域半胱氨酸氧化还原状态的能力。与该序列相对应的合成肽(NOTCH3 N 端片段 2,NTF2)可在剂量和时间依赖性方式下轻易还原 NOTCH3 N 端细胞外多肽。此外,NTF2 优先还原 NOTCH3 中具有最高强度的区域结构域,针对表皮生长因子样结构域 12-15。这个过程需要 NTF2 的半胱氨酸残基,并且还能够靶向包括 TSP2 和 CTSH 在内的选定细胞外蛋白。NOTCH3 中的 CADASIL 突变增加了对 NTF2 促进还原以及细胞内产生的 NOTCH3 进行反式还原的敏感性。此外,NTF2 与 NOTCH3 细胞外结构域形成复合物,并且切割的 NOTCH3 与 CADASIL 患者脑动脉中的 NOTCH3 细胞外结构域共定位。NTF2 还原血管蛋白的潜力以及对突变 NOTCH3 进行反式还原的增强偏好性表明,蛋白反式还原在 CADASIL 等脑血管病理状态中起作用。