Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 4, 2014, Pages 1539-1544

  Mangione, P Patrizia ^a,b   Porcari, Riccardo ^a   Gillmore, Julian D ^a   Pucci, Piero ^c   Monti, Maria ^c   Porcari, Mattia ^b   Giorgetti, Sofia ^b   Marchese, Loredana ^b   Raimondi, Sara ^b   Serpell, Louise C ^d   Chen, Wenjie ^a   Relini, Annalisa ^e   Marcoux, Julien ^f   Clatworthy, Innes R ^a   Taylor, Graham W ^a   Tennent, Glenys A ^a   Robinson, Carol V ^f   Hawkins, Philip N ^a   Stoppini, Monica ^b   Wood, Stephen P ^a   Pepys, Mark B ^a   Bellotti, Vittorio ^a,b   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

^e UNIVERSITY OF GENOA   (Italy)

^f UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Misfolding; Protein aggregation

Indexed keywords

AMYLOID; GLUTAMINE; PREALBUMIN; PROLINE; RETINOL BINDING PROTEIN; SERINE; TETRAMER; THYROXINE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; BETA TURN; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; CRYSTAL STRUCTURE; CRYSTALLOGRAPHY; EX VIVO STUDY; GENE MUTATION; HUMAN; HUMAN TISSUE; HYDROGEN BOND; IN VITRO STUDY; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN CLEAVAGE; PROTEIN DEGRADATION; PROTEIN STRUCTURE;

MISFOLDING; PROTEIN AGGREGATION;

AMINO ACID SEQUENCE; AMYLOID; AMYLOIDOSIS; CRYSTALLOGRAPHY, X-RAY; HUMANS; HYDROGEN BONDING; MOLECULAR CONFORMATION; MOLECULAR SEQUENCE DATA; PHENOTYPE; PREALBUMIN; PROLINE; PROTEOLYSIS; SERINE;

EID: 84893364949     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1317488111     Document Type: Article

References (28)

1. Pepys MB (2006) Amyloidosis. Annu Rev Med 57(1):223-241.
2. Merlini G, Bellotti V (2003) Molecular mechanisms of amyloidosis. N Engl J Med 349(6):583-596.
3. Valleix S, et al. (2012) Hereditary systemic amyloidosis due to Asp76Asn variant β2- microglobulin. N Engl J Med 366(24):2276-2283.
4. Palaninathan SK (2012) Nearly 200 X-ray crystal structures of transthyretin: What do they tell us about this protein and the design of drugs for TTR amyloidoses? Curr Med Chem 19(15):2324-2342.
5. Hammarström P, Wiseman RL, Powers ET, Kelly JW (2003) Prevention of transthyretin amyloid disease by changing protein misfolding energetics. Science 299(5607): 713-716.
6. Westermark P, Sletten K, Johnson KH (1996) Ageing and amyloid fibrillogenesis: Lessons from apolipoprotein AI, transthyretin and islet amyloid polypeptide. Ciba Found Symp 199:205-218, discussion 218-222.
7. Thylén C, et al. (1993) Modifications of transthyretin in amyloid fibrils: Analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation. EMBO J 12(2):743-748.
8. Bergström J, et al. (2005) Amyloid deposits in transthyretin-derived amyloidosis: Cleaved transthyretin is associated with distinct amyloid morphology. J Pathol 206(2): 224-232.
9. Ihse E, et al. (2013) Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. Amyloid 20(3):142-150.
10. Ihse E, et al. (2008) Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol 216(2):253-261.
11. Gustafsson S, et al. (2012) Amyloid fibril composition as a predictor of development of cardiomyopathy after liver transplantation for hereditary transthyretin amyloidosis. Transplantation 93(10):1017-1023.
12. Hawkins PN, Lavender JP, Pepys MB (1990) Evaluation of systemic amyloidosis by scintigraphy with 123I-labeled serum amyloid P component. N Engl J Med 323(8): 508-513.
13. Kolstoe SE, et al. (2010) Trapping of palindromic ligands within native transthyretin prevents amyloid formation. Proc Natl Acad Sci USA 107(47):20483-20488.
14. Bulawa CE, et al. (2012) Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci USA 109(24):9629-9634.
15. Jiang X, et al. (2001) An engineered transthyretin monomer that is nonamyloidogenic, unless it is partially denatured. Biochemistry 40(38):11442-11452.
16. Blake CCF, Serpell LC (1996) Synchrotron X-ray studies suggest that the core of the transthyretin amyloid fibril is a continuous β-sheet helix. Structure 4(8):989-998.
17. Serpell LC, Blake CCF (1994) Amyloid and Amyloidosis 1993, eds Kisilevsky R, et al. (Parthenon Publishing, Pearl River, NY), pp 447-449.
18. Schneider F, Hammarström P, Kelly JW (2001) Transthyretin slowly exchanges subunits under physiological conditions: A convenient chromatographic method to study subunit exchange in oligomeric proteins. Protein Sci 10(8):1606-1613.
19. Miyata M, et al. (2010) The crystal structure of the green tea polyphenol (-)-epigallocatechin gallate-transthyretin complex reveals a novel binding site distinct from the thyroxine binding site. Biochemistry 49(29):6104-6114.
20. Gustavsson A, et al. (1995) Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. Lab Invest 73(5):703-708.
21. Bekard IB, Asimakis P, Bertolini J, Dunstan DE (2011) The effects of shear flow on protein structure and function. Biopolymers 95(11):733-745.
22. Mangione PP, et al. (2013) Structure, folding dynamics, and amyloidogenesis of D76N β2-microglobulin: Roles of shear flow, hydrophobic surfaces, and α-crystallin. J Biol Chem 288(43):30917-30930.
23. Zhang X, Halvorsen K, Zhang CZ, Wong WP, Springer TA (2009) Mechanoenzymatic cleavage of the ultralarge vascular protein von Willebrand factor. Science 324(5932): 1330-1334.
24. Mizuguchi M, et al. (2008) Unfolding and aggregation of transthyretin by the truncation of 50 N-terminal amino acids. Proteins 72(1):261-269.
25. Colon W, Kelly JW (1992) Partial denaturation of transthyretin is sufficient for amyloid fibril formation in vitro. Biochemistry 31(36):8654-8660.
26. Naiki H, Higuchi K, Hosokawa M, Takeda T (1989) Fluorometric determination of amyloid fibrils in vitro using the fluorescent dye, thioflavin T1. Anal Biochem 177(2): 244-249.
27. McNicholas S, Potterton E, Wilson KS, Noble ME (2011) Presenting your structures: The CCP4mg molecular-graphics software. Acta Crystallogr D Biol Crystallogr 67(Pt 4): 386-394.
28. DeLano WL (2002) in The PyMOL Molecular Graphics System, eds DeLano (Scientific LLC, San Carlos, CA) www.pymol.org. Accessed January 3, 2014.