{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T21:20:50Z","timestamp":1791667250966,"version":"4.3.4"},"reference-count":42,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T00:00:00Z","timestamp":1516579200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hereditary fibrinogen A\u03b1-chain amyloidosis (A\u03b1-chain amyloidosis) is a type of autosomal dominant systemic amyloidosis caused by mutations in fibrinogen A\u03b1-chain gene (FGA). Patients with A\u03b1-chain amyloidosis have been mainly reported in Western countries but have been rarely reported in Asia, with only five patients with A\u03b1-chain amyloidosis being reported in Korea, China, and Japan. Clinically, the most prominent manifestation in Asian patients with A\u03b1-chain amyloidosis is progressive nephropathy caused by excessive amyloid deposition in the glomeruli, which is similar to that observed in patients with A\u03b1-chain amyloidosis in Western countries. In molecular features in Asian A\u03b1-chain amyloidosis, the most common variant, E526V, was found in only one Chinese kindred, and other four kindred each had a different variant, which have not been identified in other countries. These variants are located in the C-terminal region (amino acid residues 517\u2013555) of mature A\u03b1-chain, which was similar to that observed in patients with A\u03b1-chain amyloidosis in other countries. The precise number of Asian patients with A\u03b1-chain amyloidosis is unclear. However, patients with A\u03b1-chain amyloidosis do exist in Asian countries, and the majority of these patients may be diagnosed with other types of systemic amyloidosis.<\/jats:p>","DOI":"10.3390\/ijms19010320","type":"journal-article","created":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T13:40:39Z","timestamp":1516628439000},"page":"320","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Hereditary Fibrinogen A\u03b1-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics"],"prefix":"10.3390","volume":"19","author":[{"given":"Masahide","family":"Yazaki","sequence":"first","affiliation":[{"name":"Institute for Biomedical Sciences, Shinshu University, Matsumoto 390-8621, Japan"},{"name":"Department of Clinical Laboratory Medicine, Shinshu University School of Health Sciences, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneaki","family":"Yoshinaga","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiki","family":"Sekijima","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Sciences, Shinshu University, Matsumoto 390-8621, Japan"},{"name":"Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9125-7001","authenticated-orcid":false,"given":"Fuyuki","family":"Kametani","sequence":"additional","affiliation":[{"name":"Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuo","family":"Okumura","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Medicine, Shinshu University School of Health Sciences, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,1,22]]},"reference":[{"key":"ref_1","first-page":"105","article-title":"Familiere amyloid-erkrankung","volume":"30","author":"Ostertag","year":"1950","journal-title":"Z. Menschl. Vererbungs Konstit. Pehre"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1080\/13506120500106925","article-title":"Ostertag revisited: The inherited systemic amyloidosis without neuropathy","volume":"12","author":"Benson","year":"2005","journal-title":"Amyloid"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1016\/S0006-291X(88)80909-4","article-title":"Variant apolipoprotein AI as a major constituent of a hemian hereditary amyloid","volume":"156","author":"Nichols","year":"1988","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1038\/ng0393-252","article-title":"Hereditary renal amyloidosis associated with a mutant fibrinogen \u03b1-chain","volume":"3","author":"Benson","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/362553a0","article-title":"Human lysozyme gene mutations cause hereditary systemic amyloidosis","volume":"362","author":"Pepys","year":"1993","journal-title":"Nature"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1006\/geno.2000.6499","article-title":"A new human hereditary amyloidosis: The result of a stop-codo mutation in the apolipoprotein AII gene","volume":"72","author":"Benson","year":"2001","journal-title":"Genomics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1681\/ASN.2015111228","article-title":"Novel type of renal amyloidosis derived from apolipoprotein C-II","volume":"28","author":"Nasr","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"10353","DOI":"10.1038\/ncomms10353","article-title":"D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile","volume":"7","author":"Valleix","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1172\/JCI117027","article-title":"Hereditary renal amyloidosis with a novel variant fibrinogen","volume":"93","author":"Uemichi","year":"1994","journal-title":"J. Clin. Investig."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"4197","DOI":"10.1182\/blood.V87.10.4197.bloodjournal87104197","article-title":"A frame shift mutation in the Fibrinogen A \u03b1-chain gene in a kindred with renal amyloidosis","volume":"87","author":"Uemichi","year":"1996","journal-title":"Blood"},{"key":"ref_11","first-page":"4799","article-title":"Renal amyloidosis with a frame shift mutation in Fibrinogen A\u03b1-chain gene producing a novel amyloid protein","volume":"90","author":"Liepnieks","year":"1997","journal-title":"Blood"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1994","DOI":"10.1111\/j.1523-1755.2005.00653.x","article-title":"Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen A\u03b1 chain gene","volume":"68","author":"Kang","year":"2005","journal-title":"Kidney Int."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1681\/ASN.2008060614","article-title":"Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A\u03b1-chain amyloidosis","volume":"20","author":"Gillmore","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"142","DOI":"10.3109\/13506129.2015.1037389","article-title":"The first pure form of Ostertag-type amyloidosis in Japan: A sporadic case of hereditary fibrinogen A\u03b1-chain amyloidosis associated with a novel frameshift variant","volume":"22","author":"Yazaki","year":"2015","journal-title":"Amyloid"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.ekir.2016.11.005","article-title":"Renal amyloidosis associated with 5 novel variants in the fibrinogen A alpha cahin protein","volume":"2","author":"Rowczenio","year":"2017","journal-title":"Kidney Int. Rep."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2799","DOI":"10.1182\/blood-2017-07-796185","article-title":"VLITL is a major cross-b-sheet signal for fibrinogen A\u03b1-chain frameshift variants","volume":"130","author":"Garnier","year":"2017","journal-title":"Blood"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2998","DOI":"10.1182\/blood-2009-06-223792","article-title":"Hereditary fibrinogen A\u03b1-chain amyloidosis: Phenotypic characterization of a systemic disease and the role of liver transplantation","volume":"115","author":"Stangou","year":"2010","journal-title":"Blood"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2847","DOI":"10.1056\/NEJMc0805012","article-title":"Cardiac amyloidosis with the E526V mutation of the fibrinogen A\u03b1-chain","volume":"358","author":"Mourad","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1056\/NEJMoa013354","article-title":"Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis","volume":"346","author":"Lachmann","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"52","DOI":"10.3109\/13506129.2012.763029","article-title":"Fibrinogen A \u03b1-chain amyloidosis: Report of the first case in Latin America","volume":"20","author":"Machado","year":"2013","journal-title":"Amyloid"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1053\/j.ajkd.2017.01.048","article-title":"Unrecognized fibrinogen A\u03b1-chain amyloidosis: Results from targeted genetic testing","volume":"70","author":"Tavares","year":"2017","journal-title":"Am. J. Kidney Dis."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Tavares, I., Lobato, L., Matos, C., Santos, J., Moreira, P., Saraiva, M.J., and Henriques, A.C. (2015). Homozygosity for the E526V mutation in fibrinogen A alpha-chain amyloidosis: The first report. Case Rep. Nephrol.","DOI":"10.1155\/2015\/919763"},{"key":"ref_23","first-page":"802","article-title":"Hereditary fibrinogen A\u03b1-chain amyloidosis caused by the E526V mutation: A case report and literature review","volume":"46","author":"Yao","year":"2014","journal-title":"Beijing Da Xue Xue Bao Yi Xue Ban"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"E23","DOI":"10.1053\/j.ajkd.2003.12.056","article-title":"A patient with severe renal amyloidosis associated with an immunoglobulin \u03b3-heavy chain fragment","volume":"43","author":"Yazaki","year":"2004","journal-title":"Am. J. Kidney Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0065-3233(05)70008-5","article-title":"Fibrinogen and fibrin","volume":"70","author":"Weisel","year":"2005","journal-title":"Adv. Protein Chem."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1182\/blood-2012-09-306639","article-title":"Mechanism of fibrin polymerization and clinical implications","volume":"121","author":"Weisel","year":"2013","journal-title":"Blood"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2344","DOI":"10.1073\/pnas.82.8.2344","article-title":"Evolution and organization of the fibrinogen locus on chromosome 4: Gene duplication accompanied by transposition and inversion","volume":"82","author":"Kant","year":"1985","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1172\/JCI116371","article-title":"The molecular basis for fibrinogen Dusart (Aa554 Arg->Cys) and its association with abnormal fibrinogen polymerization and thrombophilia","volume":"91","author":"Koopman","year":"1993","journal-title":"J. Clin. Investig."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1055\/s-0037-1616752","article-title":"A frameshift mutation in the human fibrinogen \u03b1-chain gene (\u03b1 (499) Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo","volume":"86","author":"Margaglione","year":"2001","journal-title":"Thromb. Haemost."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1080\/13506120701461111","article-title":"Structural analyses of fibrinogen amyloid fibrils","volume":"14","author":"Serpell","year":"2007","journal-title":"Amyloid"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1097\/TP.0000000000000574","article-title":"Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative?","volume":"99","author":"Ericzon","year":"2015","journal-title":"Transplantation"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2802","DOI":"10.1007\/s00415-013-7051-7","article-title":"Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy","volume":"260","author":"Coelho","year":"2013","journal-title":"J. Neurol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2658","DOI":"10.1001\/jama.2013.283815","article-title":"Repurposing Diflunisal for Familial Amyloid Polyneuropathy: A Randomized Clinical Trial","volume":"310","author":"Berk","year":"2013","journal-title":"JAMA"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1056\/NEJMoa1208760","article-title":"Safety and efficacy of RNAi therapy for transthyretin amyloidosis","volume":"369","author":"Coelho","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/mus.20503","article-title":"Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides","volume":"33","author":"Benson","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1365-2141.2010.08503.x","article-title":"Regression of gastroduodenal amyloid deposition in systemic AL amyloidosis after intensive chemotherapies","volume":"153","author":"Katoh","year":"2011","journal-title":"Br. J. Haematol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.2169\/internalmedicine.53.2065","article-title":"Marked and rapid regression of hepatic amyloid deposition in a patient with systemic light chain (AL) amyloidosis after high-dose melphalan therapy with stem cell transplantation","volume":"53","author":"Katoh","year":"2014","journal-title":"Intern. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/leu.2012.274","article-title":"Bortezomib and dexamethasone consolidation following risk-adapted melphalan and stem cell transplantation for patients with newly diagnosed light-chain amyloidosis","volume":"27","author":"Landau","year":"2013","journal-title":"Leukemia"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2997","DOI":"10.1002\/art.22118","article-title":"Successful use of a humanized anti-interleukin-6 receptor antibody, tocilizumab, to treat amyloid a amyloidosis complicating juvenileidiopathic arthritis","volume":"54","author":"Okuda","year":"2006","journal-title":"Arthritis Rheum."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"137","DOI":"10.3109\/14397595.2013.854048","article-title":"Comparison of the clinical utility of tocilizumab and anti-TNF therapy in AA amyloidosis complicating rheumatic diseases","volume":"24","author":"Okuda","year":"2014","journal-title":"Mod. Rheumatol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2342","DOI":"10.1111\/j.1600-6143.2006.01507.x","article-title":"Organ transplantation in hereditary apolipoprotein AI amyloidosis","volume":"6","author":"Gillmore","year":"2006","journal-title":"Am. J. Transplant."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"224","DOI":"10.3109\/13506120309041739","article-title":"Renal transplantation for apolipoprotein AII amyloidosis","volume":"10","author":"Magy","year":"2003","journal-title":"Amyloid"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/19\/1\/320\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T14:52:05Z","timestamp":1760194325000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/19\/1\/320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,22]]},"references-count":42,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,1]]}},"alternative-id":["ijms19010320"],"URL":"https:\/\/doi.org\/10.3390\/ijms19010320","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,22]]}}}