Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis

References

• Cornwell GG III, Murdoch WL, Kyle RA, Westermark P, Pitkänen P. Frequency and distribution of senile cardiovascular amyloid. Am J Med 1983;75:618–23
   PubMed Web of Science ®Google Scholar
• Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003;10:160–84
   PubMed Web of Science ®Google Scholar
• Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005;62:1057–62
   PubMed Web of Science ®Google Scholar
• Koike H, Misu K, Ikeda S, Ando Y, Nakazato M, Ando E, Yamamoto M, et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- versus late-onset form. Arch Neurol 2002;59:1771–6
   PubMed Web of Science ®Google Scholar
• Coelho T, Sousa A, Lourenco E, Ramalheira J. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J Med Genet 1994;31:293–9
   PubMed Web of Science ®Google Scholar
• Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993;43:288–94
   PubMed Web of Science ®Google Scholar
• Koike H, Misu K, Sugiura M, Iijima M, Mori K, Yamamoto M, Hattori N, et al. Pathology of early- versus late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 2004;63:129–38
   PubMed Web of Science ®Google Scholar
• Suhr OB, Lindqvist P, Olofsson BO, Waldenstrom A, Backman C. Myocardial hypertrophy and function are related to age at onset in familial amyloidotic polyneuropathy. Amyloid 2006;13:154–9
   PubMed Web of Science ®Google Scholar
• Bergström J, Gustavsson Å, Hellman U, Sletten K, Murphy CL, Weiss DT, Solomon A, et al. Amyloid deposits in transthyretin-derived amyloidosis: cleaved transthyretin is associated with distinct amyloid morphology. J Pathol 2005;206:224–32
   PubMed Web of Science ®Google Scholar
• Thylén C, Wahlqvist J, Haettner E, Sandgren O, Holmgren G, Lundgren E. Modifications of transthyretin in amyloid fibrils: analysis of amyloid homozygous and heterozygous individuals with the Met30 mutation. EMBO J 1993;12:743–8
   PubMed Web of Science ®Google Scholar
• Yazaki M, Liepnieks JJ, Kincaid JC, Benson MD. Contribution of wild-type transthyretin to hereditary peripheral nerve amyloid. Muscle Nerve 2003;28:438–42
   PubMed Web of Science ®Google Scholar
• Pras M, Prelli F, Franklin EC, Frangione B. Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin. Proc Natl Acad Sci USA 1983;80:539–42
   PubMed Web of Science ®Google Scholar
• Hermansen LF, Bergman T, Jörnvall H, Husby G, Ranløv I, Sletten K. Purification and characterization of amyloid-related transthyretin associated with familial amyloidotic cardiomyopathy. Eur J Biochem 1995;227:772–9
   PubMedGoogle Scholar
• Cornwell GG III, Sletten K, Johansson B, Westermark P. Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin. Biochem Biophys Res Commun 1988;154:648–53
   PubMed Web of Science ®Google Scholar
• Pras M, Franklin EC, Prelli F, Frangione B. A variant of prealbumin from amyloid fibrils in familial polyneuropathy of Jewish origin. J Exp Med 1981;154:989–93
   PubMed Web of Science ®Google Scholar
• Ihse E, Ybo A, Suhr O, Lindqvist P, Backman C, Westermark P. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol 2008;216:253–61
   PubMed Web of Science ®Google Scholar
• Ihse E, Suhr OB, Hellman U, Westermark P. Variation in amount of wild-type transthyretin in different fibril and tissue types in ATTR amyloidosis. J Mol Med (Berl) 2011;89:171–80
   PubMed Web of Science ®Google Scholar
• Koike H, Ando Y, Ueda M, Kawagashira Y, Iijima M, Fujitake J, Hayashi M, et al. Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. J Neurol Sci 2009;287:178–84
   PubMed Web of Science ®Google Scholar
• Westermark P, Davey E, Lindbom K, Enqvist S. Subcutaneous fat tissue for diagnosis and studies of systemic amyloidosis. Acta Histochem 2006;108:209–13
   PubMed Web of Science ®Google Scholar
• Kaplan B, Hrncic R, Murphy CL, Gallo G, Weiss DT, Solomon A. Microextraction and purification techniques applicable to chemical characterization of amyloid proteins in minute amounts in tissue. Meth Enzymol 1999;309:67–81
   PubMed Web of Science ®Google Scholar
• Schägger H, von Jagow G. Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. Anal Biochem 1987;166:368–79
   PubMed Web of Science ®Google Scholar
• Bergström J, Murphy CL, Weiss DT, Solomon A, Sletten K, Hellman U, Westermark P. Two different types of amyloid deposits - apolipoprotein A-IV and transthyretin - in a patient with systemic amyloidosis. Lab Invest 2004;84:981–8
   PubMed Web of Science ®Google Scholar
• Cheitlin MD, Armstrong WF, Aurigemma GP, Beller GA, Bierman FZ, Davis JL, Douglas PS, et al. ACC/AHA/ASE 2003 Guideline update for the clinical application of echocardiography: summary article. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/ASE Committee to Update the 1997 Guidelines for the Clinical Application of Echocardiography). J Am Soc Echocardiogr 2003;16:1091–110
   PubMed Web of Science ®Google Scholar
• Wilczek HE, Larsson M, Ericzon BG. Long-term data from the familial amyloidotic polyneuropathy world transplant registry (FAPWTR). Amyloid 2011;18:188–90
   Web of Science ®Google Scholar
• Barreiros AP, Post F, Hoppe-Lotichius M, Linke RP, Vahl CF, Schafers HJ, Galle PR, et al. Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. Liver Transpl 2010;16:314–23
   PubMed Web of Science ®Google Scholar
• Dubrey SW, Davidoff R, Skinner M, Bergethon P, Lewis D, Falk RH. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 1997;64:74–80
   PubMed Web of Science ®Google Scholar
• Gustafsson S, Ihse E, Henein MY, Westermark P, Lindqvist P, Suhr OB. Amyloid fibril composition as a predictor of development of cardiomyopathy after liver transplantation for hereditary transthyretin amyloidosis. Transplantation 2012;93:1017--23
   Google Scholar
• Saraiva MJ, Costa PP, Goodman DS. Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy. Neurology 1986;36:1413–7
   PubMed Web of Science ®Google Scholar
• Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, Said G. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 1998;51:708–14
   PubMed Web of Science ®Google Scholar
• Benson MD II, Julien J, Liepnieks J, Zeldenrust S, Benson MD. A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet 1993;30:117–9
   PubMed Web of Science ®Google Scholar
• Almeida MR, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, Plasmati R, et al. Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat 1992;1:211–5
   PubMedGoogle Scholar
• Vita G, Mazzeo A, Di Leo R, Ferlini A. Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy. Neuromuscul Disord 2005;15:259–61
   PubMed Web of Science ®Google Scholar
• Jacobson DR, Rosenthal CJ, Buxbaum JN. Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred. Hum Genet 1992;90:158–60
   PubMed Web of Science ®Google Scholar
• Jones LA, Skare JC, Harding JA, Cohen AS, Milunsky A, Skinner M. Proline at position-36 - a new transthyretin mutation associated with familial amyloidotic polyneuropathy. Am J Hum Genet 1991;48:979–82
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Perugini E, Salvi F, Grigioni F, Riva L, Cooke RM, Ferlini A, et al. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid 2006;13:143–53
   PubMed Web of Science ®Google Scholar
• Nakamura M, Yamashita T, Ueda M, Obayashi K, Sato T, Ikeda T, Washimi Y, et al. Neuroradiologic and clinicopathologic features of oculoleptomeningeal type amyloidosis. Neurology 2005;65:1051–6
   PubMed Web of Science ®Google Scholar
• Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S, Yanagihara T. Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. Brain 1992;115:1275–89
   PubMed Web of Science ®Google Scholar
• Soares ML, Coelho T, Sousa A, Batalov S, Conceicao I, Sales-Luis ML, Ritchie MD, et al. Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. Hum Mol Genet 2005;14:543–53
   PubMed Web of Science ®Google Scholar
• Dardiotis E, Koutsou P, Zamba-Papanicolaou E, Vonta I, Hadjivassiliou M, Hadjigeorgiou G, Cariolou M, et al. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met. J Neurol Sci 2009;284:158–62
   PubMed Web of Science ®Google Scholar
• Soares ML, Coelho T, Sousa A, Holmgren G, Saraiva MJ, Kastner DL, Buxbaum JN. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur J Hum Genet 2004;12:225–37
   PubMed Web of Science ®Google Scholar
• Olsson M, Hellman U, Plante-Bordeneuve V, Jonasson J, Lang K, Suhr OB. Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients. Clin Genet 2009;75:163–8
   PubMed Web of Science ®Google Scholar
• Olsson M, Norgren N, Obayashi K, Plante-Bordeneuve V, Suhr OB, Cederquist K, Jonasson J. A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers. BMC Med Genet 2010;11:130
   PubMed Web of Science ®Google Scholar
• Collinge J, Clarke AR. A general model of prion strains and their pathogenicity. Science 2007;318:930–6
   PubMed Web of Science ®Google Scholar
• Pedersen JS, Otzen DE. Amyloid-a state in many guises: survival of the fittest fibril fold. Protein Sci 2008;17:2–10
   PubMed Web of Science ®Google Scholar
• Petkova AT, Leapman RD, Guo Z, Yau W-M, Mattson MP, Tycko R. Self-propagating, molecular-level polymorphism in Alzheimer's b-amyloid fibrils. Science 2005;307:262–5
   PubMed Web of Science ®Google Scholar
• Dzwolak W, Smirnovas V, Jansen R, Winter R. Insulin forms amyloid in a strain-dependent manner: an FT-IR spectroscopic study. Protein Sci 2004;13:1927–32
   PubMed Web of Science ®Google Scholar
• Eneqvist T, Olofsson A, Ando Y, Miyakawa T, Katsuragi S, Jass J, Lundgren E, et al. Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. Biochemistry 2002;41:13143–51
   PubMed Web of Science ®Google Scholar