Role of mutations in the cellular internalization of amyloidogenic light chains into cardiomyocytes

Scientific Reports

Volumn 3, Issue , 2013, Pages

  Levinson, Rebecca T ^a,b   Olatoye, Oludare O ^a,c   Randles, Edward G ^a,d   Howell, Kyle G ^a   DiCostanzo, Ara Celi ^a   Ramirez Alvarado, Marina ^a  

^a MAYO GRADUATE SCHOOL   (United States)

^b VANDERBILT UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BOSTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PROTEIN; CARBOXYLIC ACID; IMMUNOGLOBULIN LIGHT CHAIN; OREGON GREEN 488 CARBOXYLIC ACID;

ANIMAL; ARTICLE; CELL CULTURE; CHEMISTRY; CONFOCAL MICROSCOPY; CYTOLOGY; GENETICS; HEART MUSCLE CELL; LYSOSOME; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; PROTEIN SECONDARY STRUCTURE;

AMYLOIDOGENIC PROTEINS; ANIMALS; CARBOXYLIC ACIDS; CELLS, CULTURED; IMMUNOGLOBULIN LIGHT CHAINS; LYSOSOMES; MICE; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION; MYOCYTES, CARDIAC; PROTEIN STRUCTURE, SECONDARY;

EID: 84874301140     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep01278     Document Type: Article

References (28)

1. Falk, R. H., Comenzo, R. L. & Skinner, M. The systemic amyloidoses. N Engl J Med 337, 898-909 (1997).
2. Falk, R. H. Diagnosis and management of the cardiac amyloidoses. Circulation 112, 2047-2060 (2005).
3. Kieninger, B. et al. Amyloid in endomyocardial biopsies. Virchows Arch 456, 523-532 (2010).
4. Kumar, S. K. et al. Recent improvements in survival in primary systemic amyloidosis and the importance of an early mortality risk score. Mayo Clinic proceedings 86, 12-18 (2011).
5. Schroeder, H. W. Jr. & Cavacini, L. Structure and function of immunoglobulins. J Allergy Clin Immunol 125, S41-52 (2010).
6. Olsen, K. E., Sletten, K. & Westermark, P. Fragments of the constant region of immunoglobulin light chains are constituents of AL-amyloid proteins. Biochem Biophys Res Commun 251, 642-647 (1998).
7. Vrana, J. A. et al. Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood 114, 4957-4959 (2009).
8. Klimtchuk, E. S. et al. The critical role of the constant region in thermal stability and aggregation of amyloidogenic immunoglobulin light chain. Biochemistry 49, 9848-9857 (2010).
9. Liao, R. et al. Infusion of light chains from patients with cardiac amyloidosis causes diastolic dysfunction in isolated mouse hearts. Circulation 104, 1594-1597 (2001).
10. Trinkaus-Randall, V. et al. Cellular response of cardiac fibroblasts to amyloidogenic light chains. Am J Pathol 166, 197-208 (2005).
11. Monis, G. F. et al. Role of endocytic inhibitory drugs on internalization of amyloidogenic light chains by cardiac fibroblasts. Am J Pathol 169, 1939-1952 (2006).
12. Brenner, D. A. et al. Human amyloidogenic light chains directly impair cardiomyocyte function through an increase in cellular oxidant stress. Circ Res 94, 1008-1010 (2004).
13. Shi, J. et al. Amyloidogenic light chains induce cardiomyocyte contractile dysfunction and apoptosis via a non-canonical p38alpha MAPK pathway. Proceedings of the National Academy of Sciences of the United States of America 107, 4188-4193 (2010).
14. Baden, E. M. et al. Altered dimer interface decreases stability in an amyloidogenic protein. J Biol Chem 283, 15853-15860 (2008).
15. Sikkink, L. A. & Ramirez-Alvarado, M. Cytotoxicity of amyloidogenic immunoglobulin light chains in cell culture. Cell Death Dis 1, e98 (2010).
16. Keeling, J., Teng, J. & Herrera, G. A. AL-amyloidosis and light-chain deposition disease light chains induce divergent phenotypic transformations of human mesangial cells. Lab Invest 84, 1322-1338 (2004).
17. Baden, E. M., Randles, E. G., Aboagye, A. K., Thompson, J. R. & Ramirez-Alvarado, M. Structural insights into the role of mutations in amyloidogenesis. J Biol Chem 283, 30950-30956 (2008).
18. Balch, W. E., Morimoto, R. I., Dillin, A. & Kelly, J. W. Adapting proteostasis for disease intervention. Science 319, 916-919 (2008).
19. Epstein, W. V., Tan, M. & Wood, I. S. Formation of "amyloid" fibrils in vitro by action of human kidney lysosomal enzymes on Bence Jones proteins. J Lab Clin Med 84, 107-110 (1974).
20. Tan, M. & Epstein, W. Polymer formation during the degradation of human light chain and Bence-Jones proteins by an extrct of the lysosomal fraction of normal human kidney. Immunochemistry 9, 9-16 (1972).
21. Iwata, A. et al. Increased susceptibility of cytoplasmic over nuclear polyglutamine aggregates to autophagic degradation. Proceedings of the National Academy of Sciences of the United States of America 102, 13135-13140 (2005).
22. von Mikecz, A. PolyQ fibrillation in the cell nucleus: who's bad? Trends Cell Biol 19, 685-691 (2009).
23. Yang, W., Dunlap, J. R., Andrews, R. B. & Wetzel, R. Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells. Hum Mol Genet 11, 2905-2917 (2002).
24. Teng, J. et al. Different types of glomerulopathic light chains interact with mesangial cells using a common receptor but exhibit different intracellular trafficking patterns. Lab Invest 84, 440-451 (2004).
25. White, S. M., Constantin, P. E. & Claycomb, W. C. Cardiac physiology at the cellular level: use of cultured HL-1 cardiomyocytes for studies of cardiac muscle cell structure and function. Am J Physiol Heart Circ Physiol 286, H823-829 (2004).
26. Claycomb, W. C. et al. HL-1 cells: a cardiac muscle cell line that contracts and retains phenotypic characteristics of the adult cardiomyocyte. Proceedings of the National Academy of Sciences of the United States of America 95, 2979-2984 (1998).
27. McLaughlin, R. W., De Stigter, J. K., Sikkink, L. A., Baden, E. M. & Ramirez-Alvarado, M. The effects of sodium sulfate, glycosaminoglycans, and Congo red on the structure, stability, and amyloid formation of an immunoglobulin light-chain protein. Protein Sci 15, 1710-1722 (2006).
28. Graham, J. M. Isolation of lysosomes from tissues and cells by differential and density gradient centrifugation. Current protocols in cell biology Chapter 3, (2001).