Table 3 Proteomic Studies in CADASIL
From: ER stress induced immunopathology involving complement in CADASIL: implications for therapeutics
Study (Reference) | CADASIL (no); NOTCH3 Mutation | Post-mortem Findings (no cases) | Sample type | Proteomic Methods | Changes in key identified proteins |
|---|---|---|---|---|---|
Unlu et al., 2000 [59] | Arg133Cys (1); Arg141Cys (2); | SVD, WMD, lacunes (3) | CSF | 2DGE, IEF, Mass Spectrometry | Complement Factor B, albumin (not consistently changed) |
Ihalainen et al., 2007 [23] | Arg133Cys (3); | ND | Human VSMCs | 2DGE, IEF, MALDI-TOF MS | RhoGDI, HSP27, profilin 1, CRP1, MnSOD, GST P1, GST omega |
Arboleda-Velasquez et al., 2011 [2] | Cys455Arg (1); Arg1031Cys (1) | ND | Brain vessels isolated by LMD | LCM MS | Clusterin, endostatin |
Monet-Lepretre et al., 2013 [33] | Arg110Cys (1), Arg133Cys (1), Arg153Cys (1), Arg169Cys (1) Cys1261Arg (1) | SVD, WMD, lacunes (5) | Isolated brain arteries (fractionation) | Trypsin digestion; nano LC-MS/ MS system | TIMP3, vitronectin |
Nagatoshi et al., 2017†[35] | Arg75Pro (1); Arg133Cys (3); Arg182Cys (1) | SVD, WMD, lacunes (1) | Perivascular brain tissues by LMD | Trypsin digestion; Capillary reversed phase LC-MS/ MS system | Serum amyloid P component (SAP), annexin A2, periostin, Complement C3 |
Zellner et al., 2018 [66] | Arg110Cys (1) D239-D253del (1) Cys144S (1) Arg153Cys (2) Cys1261Arg (1) | SVD, WMD, lacunes (6) | Isolated CMV incl. capillaries | Trypsin digestion; LC-MS/ MS system | Mitochondrial proteins, HTRA1, COL6, COL8, COL12, SAP, TIMP3, vitronectin, clusterin, HTRA1, Complement C3 |
Present Study | Arg133Cys (2); Arg169Cys (2); | SVD, WMD, lacunes (4) | Isolated CMV incl. capillaries | Trypsin digestion of RIPA soluble fractions; nano LC-MS/ MS system | Several heat shock proteins (Fig. 3; Supplementary Table 1) |