Systemic amyloidoses and proteomics: The state of the art

Murphy, 2006, Characterization of systemic amyloid deposits by mass spectrometry, Methods Enzymol., 412, 48, 10.1016/S0076-6879(06)12004-2 Lavatelli, 2008, Amyloidogenic and associated proteins in systemic amyloidosis proteome of adipose tissue, Mol. Cell. Proteom., 7, 1570, 10.1074/mcp.M700545-MCP200 Theis, 2013, Shotgun proteomics-based clinical testing for diagnosis and classification of amyloidosis, J. Mass Spectrom., 48, 1067, 10.1002/jms.3264 Merlini, 2011, Amyloidosis: pathogenesis and new therapeutic options, J. Clin. Oncol., 29, 1924, 10.1200/JCO.2010.32.2271 Sipe, 2014, Nomenclature 2014: amyloid fibril proteins and clinical classification of the amyloidosis, Amyloid, 21, 221, 10.3109/13506129.2014.964858 Merlini, 2003, Molecular mechanisms of amyloidosis, N. Engl. J. Med., 349, 583, 10.1056/NEJMra023144 Obici, 2005, Clinical aspects of systemic amyloid diseases, Biochim. Biophys. Acta, 1753, 11, 10.1016/j.bbapap.2005.08.014 Merlini, 2013, Systemic light chain amyloidosis: an update for treating physicians, Blood, 121, 5124, 10.1182/blood-2013-01-453001 Merlini, 2013, Light chain amyloidosis: the heart of the problem, Haematologica, 98, 1492, 10.3324/haematol.2013.094482 Saraiva, 2002, Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies, Expert Rev. Mol. Med., 4, 1, 10.1017/S1462399402004647 Sekijima, 2015, Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments, J. Neurol. Neurosurg. Psychiatry, 86, 1036, 10.1136/jnnp-2014-308724 Planté-Bordeneuve, 2013, Transthyretin familial amyloid polyneuropathy, Handb. Clin. Neurol., 115, 643, 10.1016/B978-0-444-52902-2.00038-2 Tanskanen, 2008, Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study, Ann. Med., 40, 232, 10.1080/07853890701842988 Picken, 2013, Modern approaches to the treatment of amyloidosis: the critical importance of early detection in surgical pathology, Adv. Anat. Pathol., 20, 424, 10.1097/PAP.0b013e3182a92dc3 Ueda, 2014, Recent advances in transthyretin amyloidosis therapy, Transl. Neurodegener., 3, 19, 10.1186/2047-9158-3-19 Seldin, 2012, Amyloidomics comes of age, Blood, 119, 1795, 10.1182/blood-2011-10-381178 Fernández de Larrea, 2015, A practical approach to the diagnosis of systemic amyloidoses, Blood, 125, 2239, 10.1182/blood-2014-11-609883 Schönland, 2012, Immunohistochemistry in the classification of systemic forms of amyloidosis: a systematic investigation of 117 patients, Blood, 119, 488, 10.1182/blood-2011-06-358507 Linke, 2012, On typing amyloidosis using immunohistochemistry. Detailled illustrations, review and a note on mass spectrometry, Prog. Histochem. Cytochem., 47, 61, 10.1016/j.proghi.2012.03.001 Picken, 2010, Amyloidosis—where are we now and where are we heading?, Arch. Pathol. Lab. Med., 134, 545, 10.5858/134.4.545 Lachmann, 2002, Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis, N. Engl. J. Med., 346, 1786, 10.1056/NEJMoa013354 Solomon, 2008, Unreliability of immunohistochemistry for typing amyloid deposits, Arch. Pathol. Lab. Med., 132, 14, 10.5858/2008-132-14a-UOIFTA Solomon, 2006, Misclassification of amyloidosis is unwarranted, Blood, 108, 776, 10.1182/blood-2006-02-005462 Satoskar, 2011, Strong transthyretin immunostaining: potential pitfall in cardiac amyloid typing, Am. J. Surg. Pathol., 35, 1685, 10.1097/PAS.0b013e3182263d74 Satoskar, 2007, Typing of amyloidosis in renal biopsies: diagnostic pitfalls, Arch. Pathol. Lab. Med., 131, 917, 10.5858/2007-131-917-TOAIRB Lavatelli, 2011, Proteomic typing of amyloid deposits in systemic amyloidoses, Amyloid, 18, 177, 10.3109/13506129.2011.630762 Casadonte, 2015, Imaging mass spectrometry analysis of renal amyloidosis biopsies reveals protein co-localization with amyloid deposits, Anal. Bioanal. Chem., 407, 5323, 10.1007/s00216-015-8689-z Winter, 2015, MALDI—mass spectrometry imaging identifies vitronectin as a common constituent of amyloid deposits, J. Histochem. Cytochem., 63, 772, 10.1369/0022155415595264 Nakanishi, 2013, Topologies of amyloidogenic proteins in Congo red-positive sliced sections of formalin-fixed paraffin embedded tissues by MALDI-MS imaging coupled with on-tissue tryptic digestion, Clin. Biochem., 46, 1595, 10.1016/j.clinbiochem.2013.05.063 Vrana, 2009, Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens, Blood, 114, 4957, 10.1182/blood-2009-07-230722 Sethi, 2013, Mass spectrometry based proteomics in the diagnosis of kidney disease, Curr. Opin. Nephrol. Hypertens., 22, 273, 10.1097/MNH.0b013e32835fe37c Said, 2013, Renal amyloidosis: origin and clinicopathologic correlations of 474 recent cases, Clin. J. Am. Soc. Nephrol., 8, 1515, 10.2215/CJN.10491012 Klein, 2011, Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue, Arch. Neurol., 68, 195, 10.1001/archneurol.2010.261 Said, 2013, Amyloidosis of the breast: predominantly AL type and over half have concurrent breast hematologic disorders, Mod. Pathol., 26, 232, 10.1038/modpathol.2012.167 Erickson, 2015, Analysis of amyloid in medullary thyroid carcinoma by mass spectrometry-based proteomic analysis, Endocr. Pathol., 10.1007/s12022-015-9390-7 D'Souza, 2013, Exploring the amyloid proteome in immunoglobulin-derived lymph node amyloidosis using laser microdissection/tandem mass spectrometry, Am. J. Hematol., 88, 577, 10.1002/ajh.23456 Maleszewski, 2013, Relationship between monoclonal gammopathy and cardiac amyloid type, Cardiovasc. Pathol., 22, 189, 10.1016/j.carpath.2012.09.001 Mereuta, 2014, Leukocyte cell-derived chemotaxin 2 (LECT2)-associated amyloidosis is a frequent cause of hepatic amyloidosis in the United States, Blood, 123, 1479, 10.1182/blood-2013-07-517938 Sethi, 2012, Medullary amyloidosis associated with apolipoprotein A-IV deposition, Kidney Int., 81, 201, 10.1038/ki.2011.316 Sethi, 2012, Laser microdissection and mass spectrometry-based proteomics aids the diagnosis and typing of renal amyloidosis, Kidney Int., 82, 226, 10.1038/ki.2012.108 Gilbertson, 2015, A comparison of immunohistochemistry and mass spectrometry for determining the amyloid fibril protein from formalin-fixed biopsy tissue, J. Clin. Pathol., 68, 314, 10.1136/jclinpath-2014-202722 Brambilla, 2013, Shotgun protein profile of human adipose tissue and its changes in relation to systemic amyloidoses, J. Proteome Res., 12, 5642, 10.1021/pr400583h Brambilla, 2013, Clinical proteomics for diagnosis and typing of systemic amyloidoses, Proteom. Clin. Appl., 7, 136, 10.1002/prca.201200097 Brambilla, 2012, Reliable typing of systemic amyloidoses through proteomic analysis of subcutaneous adipose tissue, Blood, 119, 1844, 10.1182/blood-2011-07-365510 Vrana, 2014, Clinical diagnosis and typing of systemic amyloidosis in subcutaneous fat aspirates by mass spectrometry-based proteomics, Haematologica, 99, 1239, 10.3324/haematol.2013.102764 Dasari, 2014, Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses, J. Proteome Res., 13, 2352, 10.1021/pr4011475 Dasari, 2015, Proteomic detection of immunoglobulin light chain variable region peptides from amyloidosis patient biopsies, J. Proteome Res., 14, 1957, 10.1021/acs.jproteome.5b00015 Kaul, 2014, Twists and turns of determining amyloid type and amyloid-related organ damage: discordance and clinical skepticism in the era of proteomic typing, Amyloid, 21, 62, 10.3109/13506129.2013.856779 Sun, 2015, The successful diagnosis and typing of systemic amyloidosis using a microwave-assisted filter-aided fast sample preparation method and LC/MS/MS analysis, PLoS One, 10, e0127180, 10.1371/journal.pone.0127180 Nakanishi, 2010, S-Sulfonation of transthyretin is an important trigger step in the formation of transthyretin-related amyloid fibril, Biochim. Biophys. Acta, 1804, 1449, 10.1016/j.bbapap.2010.03.010 Lavatelli, 2011, A novel approach for the purification and proteomic analysis of pathogenic immunoglobulin free light chains from serum, Biochim. Biophys. Acta, 1814, 409, 10.1016/j.bbapap.2010.12.012 Bergen, 2004, Characterization of amyloidogenic immunoglobulin light chains directly from serum by on-line immunoaffinity isolation, Biomed. Chromatogr., 18, 191, 10.1002/bmc.323 Botz, 2014, Detecting monoclonal light chains in urine: microLC-ESI-Q-TOF mass spectrometry compared to immunofixation electrophoresis, Br. J. Haematol., 167, 437, 10.1111/bjh.13003 Barnidge, 2014, Using mass spectrometry to monitor monoclonal immunoglobulins in patients with a monoclonal gammopathy, J. Proteome Res., 13, 1419, 10.1021/pr400985k VanDuijn, 2015, Quantitative measurement of immunoglobulins and free light chains using mass spectrometry, Anal. Chem., 87, 8268, 10.1021/acs.analchem.5b01263 Corlin, 2005, Quantification of cleaved beta2-microglobulin in serum from patients undergoing chronic hemodialysis, Clin. Chem., 51, 1177, 10.1373/clinchem.2005.049544 Bradwell, 2001, Highly sensitive, automated immunoassay for immunoglobulin free light chains in serum and urine, Clin. Chem., 47, 673, 10.1093/clinchem/47.4.673 Mead, 2008, Free light chains, Ann. Clin. Biochem., 45, 444, 10.1258/acb.2008.072541 Bergen, 2003, An on-line assay for clinical detection of amyloidogenic transthyretin variants directly from serum, Amyloid, 10, 190, 10.3109/13506120308999000 Théberge, 2000, Detection of transthyretin variants using immunoprecipitation and matrix-assisted laser desorption/ionization bioreactive probes: a clinical application of mass spectrometry, J. Am. Soc. Mass Spectrom., 11, 172, 10.1016/S1044-0305(99)00136-1 Tasaki, 2015, Rapid detection of wild-type and mutated transthyretins, Ann. Clin. Biochem. Ueda, 2009, SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy, Clin. Chem., 55, 1223, 10.1373/clinchem.2008.118505 Pont, 2015, Analysis of transthyretin in human serum by capillary zone electrophoresis electrospray ionization time-of-flight mass spectrometry. Application to familial amyloidotic polyneuropathy type I, Electrophoresis, 36, 1265, 10.1002/elps.201400590 Mills, 2015, Detecting monoclonal immunoglobulins in human serum using mass spectrometry, Methods, 81, 56, 10.1016/j.ymeth.2015.04.020 Barnidge, 2015, Using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to detect monoclonal immunoglobulin light chains in serum and urine, Rapid Commun. Mass Spectrom., 29, 2057, 10.1002/rcm.7314 Lim, 2002, Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis, Anal. Chem., 74, 741, 10.1021/ac010780+ Tachibana, 1999, Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy, Amyloid, 6, 282, 10.3109/13506129909007341 Nepomuceno, 2004, Detection of genetic variants of transthyretin by liquid chromatography-dual electrospray ionization fourier-transform ion-cyclotron-resonance mass spectrometry, Clin. Chem., 50, 1535, 10.1373/clinchem.2004.033274 Théberge, 2011, Top-down analysis of small plasma proteins using an LTQ-Orbitrap. Potential for mass spectrometry-based clinical assays for transthyretin and hemoglobin, Int. J. Mass Spectrom., 300, 130, 10.1016/j.ijms.2010.08.012 O’Brien, 2009, Transthyretin mass determination for detection of transthyretin familial amyloid, Methods Mol. Biol., 492, 353, 10.1007/978-1-59745-493-3_21 Vilà-Rico, 2015, Quantitative analysis of post-translational modifications in human serum transthyretin associated with familial amyloidotic polyneuropathy by targeted LC–MS and intact protein MS, J. Proteom., 127, 234, 10.1016/j.jprot.2015.04.016 Robert Bergen, 2015, Clonotypic light chain peptides identified for monitoring minimal residual disease in multiple myeloma without bone marrow aspiration, Clin. Chem. da Costa, 2015, Transthyretin amyloidosis: chaperone concentration changes and increased proteolysis in the pathway to disease, PLoS One, 10, e0125392, 10.1371/journal.pone.0125392 Lavatelli, 2014, Biochemical markers in early diagnosis and management of systemic amyloidoses, Clin. Chem. Lab. Med., 52, 1517, 10.1515/cclm-2014-0235 Giorgetti, 2007, Lysine 58-cleaved beta2-microglobulin is not detectable by 2D electrophoresis in ex vivo amyloid fibrils of two patients affected by dialysis-related amyloidosis, Protein Sci., 16, 343, 10.1110/ps.062563507 Stoppini, 2005, Proteomics of beta2-microglobulin amyloid fibrils, Biochim. Biophys. Acta, 1753, 23, 10.1016/j.bbapap.2005.07.019 Marcoux, 2015, A novel mechano-enzymatic cleavage mechanism underlies transthyretin amyloidogenesis, EMBO Mol. Med., 7, 1337, 10.15252/emmm.201505357 Mangione, 2014, Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis, Proc. Natl. Acad. Sci. U. S. A., 111, 1539, 10.1073/pnas.1317488111 Klimtchuk, 2010, The critical role of the constant region in thermal stability and aggregation of amyloidogenic immunoglobulin light chain, Biochemistry, 49, 9848, 10.1021/bi101351c Lim, 2001, Identification and location of a cysteinyl posttranslational modification in an amyloidogenic kappa1 light chain protein by electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry, Anal. Biochem., 295, 45, 10.1006/abio.2001.5187 Kingsbury, 2007, Detailed structural analysis of amyloidogenic wild-type transthyretin using a novel purification strategy and mass spectrometry, Anal. Chem., 79, 1990, 10.1021/ac061546s Kingsbury, 2007, Expression, purification, and in vitro cysteine-10 modification of native sequence recombinant human transthyretin, Protein Expr. Purif., 53, 370, 10.1016/j.pep.2007.01.004 Smith, 2010, Elongated oligomers in beta2-microglobulin amyloid assembly revealed by ion mobility spectrometry-mass spectrometry, Proc. Natl. Acad. Sci. U. S. A., 107, 6794, 10.1073/pnas.0913046107 Leney, 2014, Insights into the role of the beta-2 microglobulin D-strand in amyloid propensity revealed by mass spectrometry, Mol. Biosyst., 10, 412, 10.1039/C3MB70420C Smith, 2007, Monitoring copopulated conformational states during protein folding events using electrospray ionization-ion mobility spectrometry-mass spectrometry, J. Am. Soc. Mass Spectrom., 18, 2180, 10.1016/j.jasms.2007.09.017 Pont, 2015, Characterisation of serum transthyretin by electrospray ionisation-ion mobility mass spectrometry: application to familial amyloidotic polyneuropathy type I (FAP-I), Talanta, 144, 1216, 10.1016/j.talanta.2015.07.079 Lavatelli, 2015, Novel mitochondrial protein interactors of immunoglobulin light chains causing heart amyloidosis, FASEB J., 29, 4614, 10.1096/fj.15-272179