Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 8, 2001 - Issue 1
96
Views
37
CrossRef citations to date
0
Altmetric
Original Article

The cerebral hemorrhage-producing cystatin C variant (L68Q) in extracellular fluids

, , , , , , , & show all
Pages 1-10 | Published online: 06 Jul 2009

References

  • Arnason A. Apoplexie und ihre vererbung. Ada Psychiat Neurol 1935; 7: 1–180
  • Gudmundsson G, Hallgrimsson J, Jonasson T A, Bjarnason O. Hereditary cerebral haemorrhage with amyloidosis. Brain 1972; 95: 387–404
  • Olafsson I, Grubb A. Hereditary cystatin C amyloid angiopathy. Amyloid: Int JExp Clin Invest 2000; 7: 70–79
  • Graffagnino C, Herbstreith M H, Schmechel D E, Levy E, Roses A D, Alberts M J. Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. Stroke 1995; 26: 2190–2193
  • Sveinbjörnsdóttir S, Blöndal H, Gudmundsson G, Kjartansson O, Jónsdóttir S. Progressive dementia and leucoencephalopathy as the initial presentation of late onset hereditary cystatin-C amyloidosis. Clinicopathological presentation of two cases. J Neurol Sci 1996; 140: 101–108
  • Löfberg H, Grubb A O, Nilsson E K, Jensson O, Gudmundsson G, Blöndal H, Arnason A, Thorsteinsson L. Im-munohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. Stroke 1987; 18: 431–440
  • Blöndal H, Gudmundsson G, Benedikz E, Johannesson G. Dementia in hereditary cystatin C amyloidosis. Prog Clin Biol Res 1989; 317: 157–164
  • Westermark P. Classification of amyloid fibril proteins and their precursors: an ongoing discussion. Amyloid: Int J Exp Clin Invest 1997; 4: 216–218
  • Grubb A, Löfberg H. Human γ-trace, a basic microprotein: amino acid sequence and presence in the ad-enohypophysis. Proc Natl Acad Sci USA 1982; 79: 3024–3027
  • Barrett A J, Davies M E, Grubb A. The place of human γ-trace (cystatin C) amongst the cysteine proteinase inhibitors. Biochem Biophys Res Commun 1984; 120: 631–636
  • Cohen D H, Feiner H, Jensson O, Frangione B. Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, y-trace. J Exp Med 1983; 158: 623–628
  • Grubb A, Lofberg H. Human γ-trace. Structure, function and clinical use of concentration measurements. ScandJ Clin Lab Invest 1985; 45: 7–13
  • Ghiso J, Jensson O, Frangione B. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of γ-trace basic protein (cystatin C). Proc Natl Acad Sci USA 1986; 83: 2974–2978
  • Palsdottir A, Abrahamson M, Thorsteinsson L, Arnason A, Olafsson I, Grubb A, Jensson O. Mutation in cystatin C gene causes hereditary brain haemorrhage. Lancet 1988; 2: 603–604
  • Abrahamson M, Jonsdottir S, Olafsson I, Jensson O, Grubb A. Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. Hum Genet 1992; 89: 377–380
  • Abrahamson M, Olafsson I, Palsdottir A, Ulvsback M, Lundwall A, Jensson O, Grubb A. Structure and expression of the human cystatin C gene. Biochem J 1990; 268: 287–294
  • Emilsson V, Thorsteinsson L, Jensson O, Gudmundsson G. Human cystatin C gene expression and regulation by TGF-β1: Implications for the pathogenesis of hereditary cystatin C amyloid angiopathy causing brain hemorrhage. Amyloid: Int J Exp Clin Invest 1996; 3: 110–118
  • Grubb A, Jensson O, Gudmundsson G, Arnason A, Lofberg H, Malm J. Abnormal metabolism of γ-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. N Engl J Medi W 1984; 1547–1549
  • Jonsdottir S, Palsdottir A. Molecular diagnosis of hereditary cystatin C amyloid angiopathy. Biochem Med Metab Biol 1993; 49: 117–123
  • Abrahamson M, Dalbege H, Olafsson I, Carlsen S, Grubb A. Efficient production of native, biologically active human cystatin C by Escherichia coli. FEBSLett 1988; 236: 14–18
  • Abrahamson M, Grubb A. Increased body temperature accelerates aggregation of the Leu-68Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy. Proc Natl Acad Sci USA 1994; 91: 1416–1420
  • Thorsteinsson L, Georgsson G, Asgeirsson B, Bjamadottir M, Olafsson I, Jensson O, Gudmundsson G. On the role of monocytes/macrophages in the pathogenesis of central nervous system lesions in hereditary cystatin C amyloid angiopathy. J Neurol Sci 1992; 108: 121–128
  • Bjamadottir M, Wulff B, Sameni M, Sloane B, Keppler D, Grubb A, Abrahamson M. Intracellular accumulation of the amyloidogenic L68Q variant of human cystatin C in NIH/3T3 cells. J Clin Pathol: Mol Pathol 1998; 51: 317–326
  • Benedikz E, Merz G S, Schwenk V, Johansen T E, Wisniewski H M, Rushbrook J I. Cellular processing of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. Amyloid: Int J Exp Clin Invest 1999; 6: 172–182
  • Wei L, Berman Y, Castano E M, Cadene M, Beavis R C, Devi L, Levy E. Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. J Biol Chem 1998; 273: 11806–11814
  • Tencer J, Thysell H, Andersson K, Grubb A. Stability of albumin, protein HC, immunoglobulin G, K- and X-,chain immunoreactivity, orosomucoid and c-antitrypsin in urine stored at various conditions. Scand J Clin Lab Invest 1994; 54: 199–206
  • Abrahamson M, Barrett A J, Salvesen G, Grubb A. Isolation of six cysteine proteinase inhibitors from human urine. Their physicochemical and enzyme kinetic properties and concentrations in biological fluids. J Biol Chem 1986; 261: 11282–11289
  • Olafsson I, Löfberg H, Abrahamson M, Grubb A. Production, characterization and use of monoclonal antibodies against the major extracellular human cysteine proteinase inhibitors cystatin C and kininogen. Scand J Clin Lab Invest 1988; 48: 573–582
  • Bjamadottir M, Grubb A, Olafsson I. Promoter-mediated, dexamethasone-induced increase in cystatin C production by HeLa cells. Scand J Clin Lab Invest 1995; 55: 617–623
  • Laemmli U K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970; 227: 680–685
  • Asgeirsson B, Haebel S, Thorsteinsson L, Helgason E, Gudmundsson K O, Gudmundsson G, Roepstorff P. Hereditary cystatin C amyloid angiopathy: monitoring the presence of the Leu-68Gln cystatin C variant in cerebrospinal fluids and monocyte cultures by MS. Biochem, J 1998; 329: 497–503
  • Mann M, Højrup P, Roepstorff P. Use of mass spectrometric molecular weight information to identify proteins in sequence databases. Biol Mass Spectrom 1993; 22: 338–345
  • Pappin D JC, Hojrup P, Beasby A J. Rapid identification of proteins by peptide-mass fingerprinting. CurrBiol 1993; 3: 327–332
  • Yates J R D, Speicher S, Griffin P R, Hunkapiller T. Peptide mass maps: a highly informative approach to protein identification. Anal Biochem 1993; 214: 397–408
  • James P, Quadroni M, Carafoli E, Gonnet G. Protein identification by mass profile fingerprinting. Biochem Biophys Res Commun 1993; 195: 58–64
  • James P, Quadroni M, Carafoli E, Gonnet G. Protein identification in DNA databases by peptide mass fingerprinting. Protein Sci 1994; 3: 1347–1350
  • HenzEl W J, Billed T M, Stults J T, Wong S C, Grimley C, Watanabe C. Identifying proteins from two-dimensional gels by molecular mass searching of peptide fragments in protein sequence databases. Proc Natl Acad Sci USA 1993; 90: 5011–5015
  • Henzel W J, Billed T M, Stults J T, Wong S C, Grimley C, Watanabe C. Identification of 2-D gel proteins at the femtomole level by molecular mass searching of peptide fragments in a protein sequence database. Techniques in Protein Chemistry 1994; V: 3–9
  • Westman A, Nilsson C L, Ekman R. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of proteins in human cerebrospinal fluid. Rapid Commun Mass Spectrom 1998; 12: 1092–1098
  • Théberge R, Connors L, Skinner M, Skare J, Costello C E. Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry. Anal Chem 1999; 71: 452–459
  • Gerhartz B, Ekiel I, Abrahamson M. Two stable unfolding intermediates of the disease-causing L68Q variant of human cystatin C. Biochemistry 1998; 37: 17309–17317
  • Ekiel I, Abrahamson M, Fulton D B, Lindahl P, Storer A C, Levadoux W, Lafrance M, Labelle S, Pomerleau Y, Groleau D, LeSauteur L, Gehring K. NMR structural studies of human cystatin C dimers and monomers. J Mol Biol 1997; 271: 266–277
  • Ekiel I, Abrahamson M. Folding-related dimer-ization of human cystatin C. J Biol Chem 1996; 111: 1314–1321
  • Maruyama K, Ikeda S, Ishihara T, Allsop D, Yanagisawa N. Immunohistochemical characterization of cerebrovascular amyloid in 46 autopsied cases using antibodies to β-protein and cystatin C. Stroke 1990; 21: 397–403
  • Haan J, Maat-Schieman M L, van Duinen S G, Jensson O, Thorsteinsson L, Roos R A. Co-localization of p/ A4 and cystatin C in cortical blood vessels in Dutch, but not in Icelandic hereditary cerebral hemorrhage with amyloidosis. Acta Neurol Scand 1994; 89: 367–371
  • Shimode K, Kobayashi S, Imaoka K, Umegae N, Nagai A. Leukoencephalopathy-related cerebral amyloid angiopathy with cystatin C deposition. Stroke 1996; 27: 1417–1419
  • Vinters H V, Secor D L, Pardridge W M, Gray F. Immunohistochemical study of cerebral amyloid angiopathy. III. Widespread Alzheimer A4 peptide in cerebral microvessel walls colocalizes with y-trace in patients with leukoencepha-lopathy. Ann Neurol 1990; 28: 34–42
  • Anders K H, Wang Z Z, Kornfeld M, Gray F, Soontornniyomkij V, Reed L A, Hart M N, Menchine M, Secor D L, Vinters H V. Giant cell arteritis in association with cerebral amyloid angiopathy: immunohistochemical and molecular studies. Hum Pathol 1997; 28: 1237–1246
  • Maruyama K, Kametani F, Ikeda S, Ishihara T, Yanagisawa N. Characterization of amyloid fibril protein from a case of cerebral amyloid angiopathy showing immunohistochemical reactivity for both P-protein and cystatin C. Neurosci Lett 1992; 144: 38–42
  • Jensson O, Gudmundsson G, Arnason A, Blondal H, Petursdottir I, Thorsteinsson L, Grubb A, Lofberg H, Cohen D, Frangione B. Hereditary cystatin C (y-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. Acta Neurol Scand 1987; 76: 102–114

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.