Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the african american population in the seventh decade of life

Journal of Molecular Diagnostics

Volumn 16, Issue 1, 2014, Pages 68-74

  Reddi, Honey V ^a   Jenkins, Sarah ^a   Theis, Jason ^a   Thomas, Brittany C ^a   Connors, Lawreen H ^b   Van Rhee, Frits ^c   Highsmith Jr , W Edward ^a  

^a MAYO CLINIC   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PREALBUMIN;

AFRICAN AMERICAN; ARTICLE; CLINICAL ARTICLE; CODON; GENE MUTATION; GENETIC ASSOCIATION; HEART AMYLOIDOSIS; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; MALE; ONSET AGE; SYMPTOM;

AFRICAN AMERICANS; AGE OF ONSET; AGED; AMYLOID NEUROPATHIES, FAMILIAL; CARDIOMYOPATHIES; COHORT STUDIES; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PREALBUMIN; SEX FACTORS;

EID: 84890378018     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2013.08.001     Document Type: Article

References (30)

1. S.M. Shiller, A.H. Dogan, R.M. Kimiyo, and W.E. Highsmith Laboratory methods for the diagnosis of hereditary amyloidosis M.M. Picken, A.H. Dogan, G.A. Herrera, Amyloid and Related Disorders: Surgical Pathology and Clinical Correlations 2012 Humana Press New York 291 302
2. M.J. Saraiva Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies Expert Rev Mol Med 12 2002 1 11
3. B. Ng, L.H. Connors, R. Davidoff, M. Skinner, and R.H. Falk Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis Arch Intern Med 12 2005 1425 1429
4. F.L. Ruberg, and J.L. Berk Transthyretin (TTR) cardiac amyloidosis Circulation 10 2012 1286 1300
5. A. Fernandez-Flores A review of amyloid staining: methods and artifacts Biotech Histochem 5 2011 293 301
6. A.A. Satoskar, Y. Efebera, A. Hasan, S. Brodsky, and G. Nadasdy Dogan, Nadasdy T: Strong transthyretin immunostaining: potential pitfall in cardiac amyloid typing Am J Surg Pathol 11 2011 1685 1690
7. R.P. Linke On typing amyloidosis using immunohistochemistry: detailed illustrations, review and a note on mass spectrometry Prog Histochem Cytochem 2 2012 61 132
8. J.A. Vrana, J.D. Gamez, B.J. Madden, J.D. Theis, H.R. Bergen III, and A. Dogan Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens Blood 24 2009 4957 4959
9. S. Connelly, S. Choi, S.M. Johnson, J.W. Kelly, and I.A. Wilson Structure-based design of kinetic stabilizers that ameliorate the transthyretin amyloidoses Curr Opin Struct Biol 1 2010 54 62
10. S.E. Kolstoe, and S.P. Wood Drug targets for amyloidosis Biochem Soc Trans 2 2010 466 470
11. C. Rapezzi, C.C. Quarta, L. Obici, F. Perfetto, S. Longhi, F. Salvi, E. Biagini, M. Lorenzini, F. Grigioni, O. Leone, F. Cappelli, G. Palladini, P. Rimessi, A. Ferlini, G. Arpesella, A.D. Pinna, G. Merlini, and S. Perlini Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective Eur Heart J 7 2013 520 528
12. A. Chakrabartty Progress in transthyretin fibrillogenesis research strengthens the amyloid hypothesis Proc Natl Acad Sci U S A 26 2001 14757 14759
13. J. Buxbaum, A. Alexander, J. Koziol, C. Tagoe, E. Fox, and D. Kitzman Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies Am Heart J 5 2010 864 870
14. D.R. Jacobson, R.D. Pastore, R. Yaghoubian, I. Kane, G. Gallo, F.S. Buck, and J.N. Buxbaum Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans N Engl J Med 7 1997 466 473
15. D.R. Jacobson, P.D. Gorevic, and J.N. Buxbaum A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology Am J Hum Genet 1 1990 127 136
16. W.C. Nichols, J.J. Liepnieks, E.L. Snyder, and M.D. Benson Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122) J Lab Clin Med 3 1991 175 180
17. D.R. Jacobson, M. Ittmann, J.N. Buxbaum, R. Wieczorek, and P.D. Gorevic Transthyretin Ile 122 and cardiac amyloidosis in African-Americans: 2 case reports Tex Heart Inst J 1 1997 45 52
18. V. Askanas, W.K. Engel, R.B. Alvarez, B. Frangione, J. Ghiso, and R. Vidal Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele Ann Neurol 4 2000 544 549
19. E.K. Jacob, W.D. Edwards, M. Zucker, C. D'Cruz, S.V. Seshan, F.W. Crow, and W.E. Highsmith Homozygous transthyretin mutation in an African American Male J Mol Diagn 1 2007 127 131
20. I.M. Hamour, H.J. Lachmann, H.J. Goodman, M. Petrou, M.M. Burke, P.N. Hawkins, and N.R. Banner Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis Am J Transplant 5 2008 1056 1059
21. L.H. Connors, T. Prokaeva, A. Lim, R. Theberge, R.H. Falk, G. Doros, A. Berg, C.E. Costello, C. O'Hara, D.C. Seldin, and M. Skinner Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis Am Heart J 4 2009 607 614
22. X. Jiang, J.N. Buxbaum, and J.W. Kelly The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis Proc Natl Acad Sci U S A 26 2001 14943 14948
23. A.R. Hurshman Babbes, E.T. Powers, and J.W. Kelly Quantification of the thermodynamically linked quaternary and tertiary structural stabilities of transthyretin and its disease-associated variants: the relationship between stability and amyloidosis Biochemistry 26 2008 6969 6984
24. P.D. Gorevic, F.C. Prelli, J. Wright, M. Pras, and B. Frangione Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy J Clin Invest 3 1989 836 843
25. C. Rapezzi, L. Riva, C.C. Quarta, E. Perugini, F. Salvi, S. Longhi, P. Ciliberti, F. Pastorelli, E. Biagini, O. Leone, R.M. Cooke, L. Bacchi-Reggiani, A. Ferlini, M. Cavo, G. Merlini, S. Perlini, S. Pasquali, and A. Branzi Gender-related risk of myocardial involvement in systemic amyloidosis Amyloid 1 2008 40 48
26. H. Terazaki, Y. Ando, S. Misumi, M. Nakamura, E. Ando, N. Matsunaga, S. Shoji, M. Okuyama, H. Ideta, K. Nakagawa, T. Ishizaki, M. Ando, and M.J. Saraiva A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels Biochem Biophys Res Commun 2 1999 365 370
27. I.L. Alves, K. Altland, M.R. Almeida, P. Winter, and M.J. Saraiva Screening and biochemical characterization of transthyretin variants in the Portuguese population Hum Mutat 3 1997 226 233
28. M.J. Saraiva, M.R. Almeida, I.L. Alves, P. Moreira, M. Gawinowicz, P.P. Costa, S. Rauh, A. Banhzoff, and K. Altland Molecular analyses of an acidic transthyretin Asn 90 variant Am J Hum Genet 5 1991 1004 1008
29. A. Lim, T. Prokaeva, L.H. Connor, R.H. Falk, M. Skinner, and C.E. Costello Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis Amyloid 2 2002 134 140
30. I.L. Alves, C.M. Divino, G.C. Schussler, K. Altland, M.R. Almeida, J.A. Palha, T. Coelho, P.P. Costa, and M.J. Saraiva Thyroxine binding in a TTR Met 119 kindred J Clin Endocrinol Metab 2 1993 484 488