A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis

Kidney International

Volumn 63, Issue 5, 2003, Pages 1652-1657

  Yazaki, Masahide ^b   Farrell, Sandra A ^b   Benson, Merrill D ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

Compound heterozygosity; Hereditary amyloidosis; Lysozyme variant; Nephropathy; Polymorphism

Indexed keywords

AMYLOID; APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; DNA; FIBRINOGEN; ISOLEUCINE; LYSOZYME; PHENYLALANINE; PREALBUMIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC DISORDER; HEMODIALYSIS; HUMAN; HUMAN TISSUE; KIDNEY AMYLOIDOSIS; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; PATHOGENESIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0242500842     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2003.00904.x     Document Type: Article

References (22)

1. IKEDA S, HANYU N, HONGO M, et al: Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 110:315-337, 1987
2. MAURY CP: Homozygous familial amyloidosis, Finnish type: Demonstration of glomerular gelsolin-derived amyloid and non-amyloid tublar gelsolin. Clin Nephrol 40:53-56, 1993
3. NICHOLS WC, DWULET FE, LIEPNIEKS J, BENSON MD: Variant apoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun 156:762-768, 1988
4. BENSON MD, LIEPNIEKS J, UEMICHI T, et al: Hereditary renal amyloidosis associated with a mutant fibrinogen α-chain. Nat Genet 3:252-255, 1993
5. PEPYS MB, HAWKINS PN, BOOTH DR, et al: Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 362:553-557, 1993
6. BENSON MD, LIEPNIEKS JJ, YAZAKI M, et al: A new human hereditary amyloidosis: The result of a stop-codon mutation in the apolipoprotein AI1 gene. Genomics 72:272-277, 2001
7. VALLEIX S, DRUNAT S, PHILIT JB, et al: Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. Kidney Int 61:907-912, 2002
8. PETERS CWB, KRUSE U, POLLWEIN R, et al: The human lysozyme gene. Sequence organization and chromosomal localization. Eur J Biochem 182:507-516, 1989
9. YAZAKI M, LIEPNIEKS JJ, YAMASHITA T, et al: Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-I1 gene. Kidney Int 60:1658-1665, 2001
10. OSTERTAG B: Familiäre Amyloid-erkrankung. Z Menschl Vererbungs Konsit Lehre 30:105-115, 1950
11. HARRISON RF, HAWKINS PN. ROCHE WR, et al: Fragile liver and massive hepatic haemorrhage due to hereditary amyloidosis. Gut 38:151-152, 1996
12. ZALIN AM, JONES S, FITCH NJS, RAMDSDEN DB: Familial nephropathic non-neuropathic amyloidosis: Clinical features, immunohistochemistry and chemistry. Q J Med 81:945-956, 1991
13. LANHAM JG, MELTZER ML, DE BEER FC, et al: Familial amyloidosis of Ostertag. Q J Med 51:25-32, 1982
14. GILLMORE JD, BOOTH DR, MADHOO BS, et al: Hereditary renal amyloidosis associated with variant lysozyme in a large English family. Nephrol Dial Transplant 14:2639-2644, 1999
15. BOOTH DR, PEPYS MB, HAWKINS PN: A novel variant of human lysozyme (T70N) is common in the normal population. Human Mutat 16:180, 2000
16. BOOTH DR, BELLOTTI V, MANGIONE P, et al: Is lysozyme variant Thr70Asn amyloidogenesis? Amyloid 8:149, 2001
17. BOOTH DR, SUNDE M, BELLOTTI V, et al: Instability, unfolding and aggregation of human lysozyme variants underlying amyloid fibrillogenesis. Nature 385:787-793, 1997
18. TERAZAKI H, ANDO Y, MISUMI S, et al: A novel compound heterozygote (FAP ATTR Arg104His/Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. Biochem Biophys Res Commun 264:365-370, 1999
19. HAMMARSTRÖM P, SCHNEIDER F, KELLY JW: Trans-suppression of misfolding in an amyloid disease. Science 293:2459-2462, 2001
20. HOLMGREN G, ANDO Y, WIKSTRÖM L, et al: Discordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR Met 30). Amyloid 4:178-180, 1994
21. FUNAHASHI J, TAKANO K, OGASAHARA K, et al: The structure, stability, and folding process of amyloidogenic mutant human lysozyme. J Biochem 120:1216-1233, 1996
22. CANET D, SUNDE M, LAST AM, et al: Mechanistic studies of the folding of human lysozyme and the origin of amyloidogenic behavior in its disease-related variants. Biochemistry 38:6419-6427, 1999