Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 18, 2011 - Issue 2
321
Views
13
CrossRef citations to date
0
Altmetric
Original Article

Thermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindred

, , , , , & show all
Pages 35-46 | Published online: 16 Mar 2011

References

  • Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411–423.
  • Saraiva MJ. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat 2001;17:493–503.
  • Westermark P, Sletten K, Johansson B, Cornwell GG III. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA 1990;87:2843–2845.
  • Hamilton JA, Benson MD. Transthyretin: a review from a structural perspective. Cell Mol Life Sci 2001;58:1491–1521.
  • Quintas A, Saraiva MJ, Brito RM. The amyloidogenic potential of transthyretin variants correlates with their tendency to aggregate in solution. FEBS Lett 1997;418:297–300.
  • Jiang X, Buxbaum JN, Kelly JW. The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. Proc Natl Acad Sci USA 2001;98:14943–14948.
  • Hammarstrom P, Jiang X, Hurshman AR, Powers ET, Kelly JW. Sequence-dependent denaturation energetics: a major determinant in amyloid disease diversity. Proc Natl Acad Sci USA 2002;99:16427–16432.
  • Sekijima Y, Wiseman RL, Matteson J, Hammarstrom P, Miller SR, Sawkar AR, Balch WE, Kelly JW. The biological and chemical basis for tissue-selective amyloid disease. Cell 2005;121:73–85.
  • Hurshman AR, White JT, Powers ET, Kelly JW. Transthyretin aggregation under partially denaturing conditions is a downhill polymerization. Biochemistry 2004;43:7365–7381.
  • Ferrao-Gonzales AD, Palmieri L, Valory M, Silva JL, Lashuel H, Kelly JW, Foguel D. Hydration and packing are crucial to amyloidogenesis as revealed by pressure studies on transthyretin variants that either protect or worsen amyloid disease. J Mol Biol 2003;328:963–974.
  • Serag AA, Altenbach C, Gingery M, Hubbell WL, Yeates TO. Identification of a subunit interface in transthyretin amyloid fibrils: evidence for self-assembly from oligomeric building blocks. Biochemistry 2001;40:9089–9096.
  • Almeida MR, Alves IL, Terazaki H, Ando Y, Saraiva MJ. Comparative studies of two transthyretin variants with protective effects on familial amyloidotic polyneuropathy: TTR R104H and TTR T119M. Biochem Biophys Res Commun 2000;270:1024–1028.
  • Sekijima Y, Dendle MT, Wiseman RL, White JT, D'Haeze W, Kelly JW. R104H may suppress transthyretin amyloidogenesis by thermodynamic stabilization, but not by the kinetic mechanism characterizing T119 interallelic trans-suppression. Amyloid 2006;13:57–66.
  • Fitch NJ, Akbari MT, Ramsden DB. An inherited non-amyloidogenic transthyretin variant, [Ser6]-TTR, with increased thyroxine-binding affinity, characterized by DNA sequencing. J Endocrinol 1991;129:309–313.
  • Hammarstrom P, Wiseman RL, Powers ET, Kelly JW. Prevention of transthyretin amyloid disease by changing protein misfolding energetics. Science 2003;299:713–716.
  • Alves IL, Jacobson DR, Torres MF, Holmgren G, Buxbaum J, Saraiva MJ. Transthyretin Ser6 as a neutral polymorphism in familial amyloidotic polyneuropathy. Amyloid 1996;3:242–244.
  • Izumoto S, Kornberg J, Herbert J. Two transthyretin mutations associated with euthyroid hyperthyroxinemia. J Rheumatol 1993;20:186.
  • Saraiva MJ, Almeida MR, Alves IL, Moreira P, Gawinowicz M, Costa PP, Rauh S, Banhzoff A, Altland K. Molecular analyses of an acidic transthyretin Asn 90 variant. Am J Hum Genet 1991;48:1004–1008.
  • Alves IL, Altland K, Almeida MR, Winter P, Saraiva MJ. Screening and biochemical characterization of transthyretin variants in the Portuguese population. Hum Mutat 1997;9:226–233.
  • Moses AC, Rosen HN, Moller DE, Tsuzaki S, Haddow JE, Lawlor J, Liepnieks JJ, Nichols WC, Benson MD. A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. J Clin Invest 1990;86:2025–2033.
  • Date Y, Nakazato M, Kangawa K, Shirieda K, Fujimoto T, Matsukura S. Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues. J Neurol Sci 1997;150:143–148.
  • Ranlov I, Alves IL, Ranlov PJ, Husby G, Costa PP, Saraiva MJ. A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers. Am J Med 1992;93:3–8.
  • Svendsen IH, Steensgaard-Hansen F, Nordvag BY. A clinical, echocardiographic and genetic characterization of a Danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy. Eur Heart J 1998;19:782–789.
  • Schneider F, Hammarström P, Kelly JW. Transthyretin slowly exchanges subunits under physiological conditions: a convenient chromatographic method to study subunit exchange in oligomeric proteins. Protein Sci 2001;10:1606–1613.
  • Hammarstrom P, Jiang X, Deechongkit S, Kelly JW. Anion shielding of electrostatic repulsions in transthyretin modulates stability and amyloidosis: insight into the chaotrope unfolding dichotomy. Biochemistry 2001;40:11453–11459.
  • Hurshman Babbes AR, Powers ET, Kelly JW. Quantification of the thermodynamically linked quaternary and tertiary structural stabilities of transthyretin and its disease-associated variants: the relationship between stability and amyloidosis. Biochemistry 2008;47:6969–6984.
  • Naiki H, Higuchi K, Hosokawa M, Takeda T. Fluorometric determination of amyloid fibrils in vitro using the fluorescent dye thioflavin T1. Anal Biochem 1989;177:244–249.
  • Groenning M. Binding mode of Thioflavin T and other molecular probes in the context of amyloid fibrils – current status. J Chem Biol 2009;3:1–18.

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.