Abstract
Amyloidoses are disorders due to gene mutations, aging, or systemic diseases leading to the extracellular deposition of fibrillar proteins, which cause morphological and functional alterations of tissues. The term “amyloid” was introduced in the nineteenth century by the German botanist Matthias Schleiden, who firstly used a histochemical staining reaction by iodine and sulfuric acid allowing the detection of starch (ἄμυλον in Greek, “amylum” in Latin) in plants. Then the German physician and physiologist Rudolf Virchow (1821–1902) introduced the term “amyloid” in the medical literature. While Virchow believed that these tissue deposits had the same composition of starch, during the second half of the nineteenth century it was assessed that they are composed of proteins. In 1922, Congo red staining was found to mark amyloid deposits. The reactivity with Congo red staining, i.e., congophilia with apple green birefringence under polarized light was the first diagnostic criterion for amyloid, and it is still relevant for diagnosis. From the second half of the twentieth century, electron microscopy allowed to characterize the ultrastructure of amyloid deposits. Furthermore, a growing number of proteins were identified as possible precursors of amyloid deposits. The most recent and significant developments in the field of amyloidosis are represented by either the introduction of new diagnostic techniques or the identification of therapies interfering with specific steps of the amyloidogenic cascade.
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Abbreviations
- AL:
-
Amyloid light chain amyloidosis
- ATTR:
-
Amyloid transthyretin amyloidosis (v, variant; wt, wild-type)
- ATTR-ACT:
-
Tafamidis in transthyretin cardiomyopathy clinical trial
- CA:
-
Cardiac amyloidosis
- PET:
-
Positron emission tomography
References
Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387:2641–54.
Tanskanen M. “Amyloid”—historical aspects. In: Feng D, editor. Amyloidosis [Internet]. London: IntechOpen; 2013. [cited 2022 Dec 27]. https://www.intechopen.com/chapters/44870. https://doi.org/10.5772/53423.
Scleiden MJ, Schwann T, Schulze M. Klassische Schriften zur Zellenlehre. In: Ostwalds klassiker der exakten Wissenschaften, band 275: Verlag Harri Deutsch. http://ww.books.google/fi/books/about/Klassische_Schriften_zur_Zellenlehre.html?=h9_WFhLD8uYC&redir_esc=y.
Virchow R. Über eine im Gehirn und Rückenmark des Menschen aufgefundene Substanz mit der chemischen Reaction der Cellulose. Virchows Archiv Pathol Anat Klinische Med Berlin. 1854;6:135–8.
Kyle RA. Amyloidosis: a convoluted story. Br J Haematol. 2001;114:529–38.
SteensmaDP. “Congo” red: out of Africa? Arch Pathol Lab Med. 2001;125:250–2.
Bennhold H. Eine spezifische Amyloidfärbung mit Kongorot. Münchener Medizinische Wochenschrift (November) 1922:1537–1538.
Divry P. Etude histo-chimique des plaques seniles. J de Neurologie et de Psychiatrie. 1927;27:643–57.
Puchtler H, Sweat F, Levine M. On the binding of Congo red by amyloid. J Histochem Cytochem. 1962;10:355–64.
Yakupova EI, Bobyleva LG, Vikhlyantsev IM, Bobylev AG. Congo red and amyloids: history and relationship. Biosci Rep. 2019;39:BSR20181415.
Alzheimer A. Über eine eigenartige Erkrankung der Hirnrinde. Allg Zeitschr Psychtiatr Psych Gerichtl Med. 1907;64:146–8.
Cohen AS, Calcins E. Electron microscopic observations on a fibrous component in amyloid of diverse origins. Nature. 1959;183:1202–3.
Glenner GG, Bladen HA. Purification and reconstitution of the periodic fibril and unit structure of human amyloid. Science. 1966;154:271–2.
Pras M, Schubert M, Zucker-Franklin D, Rimon A, Franklin EC. The characterization of soluble amyloid prepared in water. J Clin Invest. 1968;47:924–33.
Eanes ED, Glenner GG. X-ray diffraction studies on amyloid filaments. J Histochem Cytochem. 1968;16(11):673–7.
Bonar L, Cohen AS, Skinner MM. Characterization of the amyloid fibril as a crossbeta protein. Proc Soc Exp Biol Med. 1969;131:1373–5.
Glenner GG, Terry W, Harada M, Isersky C, Page D. Amyloid fibril proteins: proof of homology with immunoglobulin light chains by sequence analyses. Science. 1971;172:1150–1.
Bendit EP, Eriksen N. Chemical similarity among amyloid substances associated with long standing inflammation. Lab Investig. 1971;26:615–25.
Costa PP, Figueira AS, Bravo FR. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci U S A. 1978;75:4499–503.
Corino de Andrade M. Preliminary note on an unusual form of peripheral neuropathy. Rev Neurol. 1951;85:302–6.
Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome. Ann Clin Res. 1969;1:314–24.
Sletten K, Westermark P, Natvig JB. Senile cardiac amyloid is related to prealbumin. Scand J Immunol. 1980;12:503–6.
Buxbaum JN, Dispenzieri A, Eisenberg DS, Fändrich M, Merlini G, Saraiva MJM, Sekijima Y, Westermark P. Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid. 2022, 29:213–9.
Biancalana M, Koide S. Molecular mechanism of Thioflavin-T binding to amyloid fibrils. Biochim Biophys Acta. 2010;1804:1405–12.
Wisniowski B, Wechalekar A. Confirming the diagnosis of amyloidosis. Acta Haematol. 2020;143:312–21.
Perugini E, Guidalotti PL, Salvi F, Cooke RM, Pettinato C, Riva L, Leone O, Farsad M, Ciliberti P, Bacchi-Reggiani L, Fallani F, Branzi A, Rapezzi C. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005;46:1076–84.
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AW, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133:2404–12.
Rapezzi C, Aimo A, Serenelli M, Barison A, Vergaro G, Passino C, Panichella G, Sinagra G, Merlo M, Fontana M, Gillmore J, Quarta CC, Maurer MS, Kittleson MM, Garcia-Pavia P, Emdin M. Critical comparison of documents from scientific societies on cardiac amyloidosis: JACC state-of-the-art review. J Am Coll Cardiol. 2022;79:1288–303.
Hawkins PN, Myers MJ, Lavender JP, Pepys MB. Diagnostic radionuclide imaging of amyloid: biological targeting by circulating human serum amyloid P component. Lancet. 1988;1:1413–8.
Hawkins PN, Lavender JP, Pepys MB. Evaluation of systemic amyloidosis by scintigraphy with 123I-labeled serum amyloid P component. N Engl J Med. 1990;323:508–13.
Klunk WE, Wang Y, Huang GF, Debnath ML, Holt DP, Mathis CA. Uncharged thioflavin-T derivatives bind to amyloid-beta protein with high affinity and readily enter the brain. Life Sci. 2001;69:1471–84.
Genovesi D, Vergaro G, Giorgetti A, Marzullo P, Scipioni M, Santarelli MF, Pucci A, Buda G, Volpi E, Emdin M. [18F]-Florbetaben PET/CT for differential diagnosis among cardiac immunoglobulin light chain, transthyretin amyloidosis, and mimicking conditions. JACC Cardiovasc Imaging. 2021;14:246–55.
Kyle RA, Wagoner RD, Holley KE. Primary systemic amyloidosis: resolution of the nephrotic syndrome with melphalan and prednisone. Arch Intern Med. 1982;142:1445–7.
Majolino I, Marcenò R, Pecoraro G, et al. High-dose therapy and autologous transplantation in amyloidosis-AL. Haematologica. 1993;78:68–71.
Kumar SK, Rajkumar SV, Dispenzieri A, et al. Improved survival in multiple myeloma and the impact of novel therapies. Blood. 2008;111:2516–20.
Kastritis E, Palladini G, Minnema MC, Wechalekar AD, Jaccard A, Lee HC, Sanchorawala V, Gibbs S, Mollee P, Venner CP, Lu J, Schönland S, Gatt ME, Suzuki K, Kim K, Cibeira MT, Beksac M, Libby E, Valent J, Hungria V, Wong SW, Rosenzweig M, Bumma N, Huart A, Dimopoulos MA, Bhutani D, Waxman AJ, Goodman SA, Zonder JA, Lam S, Song K, Hansen T, Manier S, Roeloffzen W, Jamroziak K, Kwok F, Shimazaki C, Kim JS, Crusoe E, Ahmadi T, Tran N, Qin X, Vasey SY, Tromp B, Schecter JM, Weiss BM, Zhuang SH, Vermeulen J, Merlini G, Comenzo RL, ANDROMEDA Trial Investigators. Daratumumab-based treatment for immunoglobulin light-chain amyloidosis. N Engl J Med. 2021;385:46–58.
Ericzon BG, Wilczek HE, Larsson M, Wijayatunga P, Stangou A, Pena JR, Furtado E, Barroso E, Daniel J, Samuel D, Adam R, Karam V, Poterucha J, Lewis D, Ferraz-Neto BH, Cruz MW, Munar-Ques M, Fabregat J, Ikeda S, Ando Y, Heaton N, Otto G, Suhr O. Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation. 2015;99:1847–54.
Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, Suhr OB, Campistol JM, Conceição IM, Schmidt HH, Trigo P, Kelly JW, Labaudinière R, Chan J, Packman J, Wilson A, Grogan DR. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79:785–92.
Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379:1007–16.
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42:1554–68.
Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, Seitzer J, O’Connell D, Walsh KR, Wood K, Phillips J, Xu Y, Amaral A, Boyd AP, Cehelsky JE, McKee MD, Schiermeier A, Harari O, Murphy A, Kyratsous CA, Zambrowicz B, Soltys R, Gutstein DE, Leonard J, Sepp-Lorenzino L, Lebwohl D. CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis. N Engl J Med. 2021;385:493–502.
Griffin JM, Rosenblum H, Maurer MS. Pathophysiology and therapeutic approaches to cardiac amyloidosis. Circ Res. 2021;128:1554–75.
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Giorgetti, A., Pucci, A., Aimo, A. (2024). A Brief History of Amyloidosis. In: Emdin, M., Vergaro, G., Aimo, A., Fontana, M. (eds) Cardiac Amyloidosis. Springer, Cham. https://doi.org/10.1007/978-3-031-51757-0_3
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