A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis

Amyloid

Volumn 5, Issue 4, 1998, Pages 285-287

  Dupuy, Olivier ^a   Blétry, Olivier ^b   Blanc, Anne Sophie ^b   Droz, Dominique ^c   Viémont, Michèle ^a   Delpech, Marc ^a   Grateau, Gilles ^d  

^a Hôpital Cochin ^*  (France)

^b FOCH HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔTEL DIEU   (France)

Author keywords

Cardiomyopathy; Tramthyretin gene mutation; Transthyretin amyloidosis

Indexed keywords

ASPARTIC ACID; DNA; GLUTAMIC ACID; PREALBUMIN;

AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; CASE REPORT; CHEMISTRY; GENETICS; HEART DISEASE; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION;

AGE OF ONSET; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ASPARTIC ACID; BASE SEQUENCE; DNA; GLUTAMIC ACID; HEART DISEASES; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; PREALBUMIN;

EID: 0032242890     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506129809007302     Document Type: Article

References (8)

1. Benson MD and Uemichi T (1996). Transthyretin amyloidosis. Amyloid. Int J Exp Clin Invest 3, 44-56
2. Saraiva MJM (1995). Transthyretin mutations in health and disease. Hum Mutat 5, 191-196
3. Benson MD (1997) Aging, amyloid and cardiomyopathy. N Engl J Med 336, 502-504
4. Kyle RA, Spittell PC, Gertz MA, Li CY, Edwards WD, Olson LJ, and Thibodeau SN (1996). The premortem recognition of systemic senile amyloidosis with cardiac involvement. Am J Med 101, 395-400
5. Jacobson DR, Pan T, Kyle RA and Buxbaum JN (1997). Transthyretin Ile20, a new variant associated with late-onset cardiac amyloidosis. Hum Mutat 9, 83-85
6. Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S (1990). Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Commun 169, 1117-1121
7. Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M (1994.) Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet 45, 281-284
8. Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS and Buxbaum JN (1997). Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 336, 466-473