Division of Medical Informatics and Bioinformatics, Kobe University Hospital, Kobe, 650-0017, Japan.
The Integrated Center for Mass Spectrometry, Kobe University Graduate School of Medicine, Kobe, 650-0017, Japan.
Transgenic Res. 2018 Feb;27(1):15-23. doi: 10.1007/s11248-017-0054-x. Epub 2017 Dec 29.
The disease model of familial amyloidotic polyneuropathy-7.2-hMet30 mice-manifests amyloid deposition that consists of a human amyloidogenic mutant transthyretin (TTR) (TTR V30M). Our previous study found amyloid deposits in 14 of 27 7.2-hMet30 mice at 21-24 months of age. In addition, non-fibrillar TTR deposits were found in amyloid-negative 7.2hMet30 mice. These results suggested that TTR amyloidogenesis required not only mutant TTR but also an additional factor (or factors) as an etiologic molecule. To determine the differences in serum proteome in amyloid-positive and amyloid-negative mice in the 7.2-hMet30 model, we used proteomic analyses and studied serum samples obtained from these mice. Hemopexin (HPX) and transferrin (Tf) were detected in the serum samples from amyloid-positive mice and were also found in amyloid deposits via immunohistochemistry, but serum samples from amyloid-negative mice did not contain HPX and Tf. These two proteins were also not detected in non-fibrillar TTR deposits. In addition, in silico analyses suggested that HPX and Tf facilitate destabilization of TTR secondary structures and misfolding of TTR. These results suggest that HPX and Tf may be associated with TTR amyloidogenesis after fibrillogenesis in vivo.
遗传性淀粉样多神经病-7.2-hMet30 小鼠的疾病模型表现为淀粉样沉积,由人类淀粉样变突变转甲状腺素蛋白(TTR)(TTR V30M)组成。我们之前的研究发现,21-24 月龄的 27 只 7.2-hMet30 小鼠中有 14 只出现淀粉样沉积。此外,在无淀粉样变的 7.2hMet30 小鼠中也发现了无纤维 TTR 沉积。这些结果表明,TTR 淀粉样变的发生不仅需要突变 TTR,还需要其他因素(或多种因素)作为病因分子。为了确定 7.2-hMet30 模型中淀粉样阳性和阴性小鼠血清蛋白质组的差异,我们使用蛋白质组学分析方法研究了这些小鼠的血清样本。在淀粉样阳性小鼠的血清样本中检测到了触珠蛋白(HPX)和转铁蛋白(Tf),通过免疫组织化学也在淀粉样沉积中发现了这两种蛋白,但在淀粉样阴性小鼠的血清样本中未检测到 HPX 和 Tf。这两种蛋白也未在无纤维 TTR 沉积中检测到。此外,计算机分析表明,HPX 和 Tf 有助于 TTR 二级结构的不稳定和 TTR 的错误折叠。这些结果表明,HPX 和 Tf 可能与体内纤维形成后 TTR 淀粉样变的发生有关。