Hepatic amyloidosis resulting from deposition of the apolipoprotein A-I variant Leu75Pro

Amyloid

Volumn 10, Issue 4, 2003, Pages 215-223

  Coriu, Daniel ^a   Dispenzieri, Angela ^b   Stevens, Fred J ^c   Murphy, Charles L ^d   Wang, Shuching ^d   Weiss, Deborah T ^d   Solomon, Alan ^d  

^a CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^b MAYO CLINIC   (United States)

^c ARGONNE NATIONAL LABORATORY   (United States)

^d UNIVERSITY OF TENNESSEE GRADUATE SCHOOL OF MEDICINE   (United States)

Author keywords

Amyloidosis; Apolipoprotein A I; Hepatic amyloid; Mass spectrometry; Variant gene

Indexed keywords

AMYLOID; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN A1; DNA FRAGMENT;

ADULT; AMINO TERMINAL SEQUENCE; ANALYTIC METHOD; ANAMNESIS; ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ETHNOLOGY; EXTRACTION; FAMILIAL AMYLOIDOSIS; FEMALE; GENE MUTATION; GENETIC CODE; GENOME ANALYSIS; HUMAN; HUMAN TISSUE; LABORATORY TEST; LIVER; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN VARIANT; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ULTRASOUND; WILD TYPE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; APOLIPOPROTEIN A-I; DNA; FEMALE; HUMANS; LEUCINE; LIVER; LIVER DISEASES; MASS SPECTROMETRY; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PLASMA; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROLINE; SEQUENCE HOMOLOGY, AMINO ACID; VARIATION (GENETICS);

EID: 1642503892     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506120309041738     Document Type: Article

References (42)

1. Benson MD (2001). The metabolic and molecular bases of inherited disease. In Beaudet AL, Sly WS and Valle D (eds.) Amyloidosis, 8th ed., pp. 5345-5378. (New York: McGraw Hill)
2. Nichols WC, Gregg RE, Brewer HB Jr. and Benson MD (1990). A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics 8:318-323
3. Vigushin DM, Gough J, Allan D, Alguacil A, Penner B, Pettigrew NM, Quinonez G, Bernstein K, Booth SE, Booth DR, Soutar AK, Hawkins PN and Pepys MB (1994). Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg 26. Q J Med 87:149-154
4. Jones LA, Harding JA, Cohen AS and Skinner M (1990). New USA family has apolipoprotein AI (Arg 26) variant. In Natvig JB, Forre Ø, Husby G, Husebekk A, Skogen B, Sletten K and Westermark P (eds.) Amyloid and Amyloidosis, pp. 385-388. (Dordrecht: Kluwer Academic Publishers)
5. Soutar AK, Hawkins PN, Vigushin DM, Tennent GA, Booth SE, Hutton T, Nguyen O, Totty NF, Feest TG, Hsuan JJ and Pepys MB (1992). Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. Proc Natl Acad Sci USA. 89:7389-7393
6. Booth DR, Tan S-Y, Booth SE, Hsuan JJ, Totty NF, Nguyen O, Hutton T, Vigushin DM, Tennent GA, Hutchinson WL, Thomson N, Soutar AK, Hawkins PN and Pepys MB (1995). A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. Q J Med 88:695-702
7. Booth DR, Tan S-Y, Booth SE, Tennent GA, Hutchinson WL, Hsuan JJ, Totty NF, Truong O, Soutar AK, Hawkins PN, Bruguera M, Caballeria, J, Sole M, Campistol JM and Pepys MB (1996). Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. J Clin Invest 97:2714-2721
8. Caballeria J, Bruguera M, Sole M, Campistol JM and Rodes J. (2001). Hepatic familial amyloidosis caused by a new mutation in the apolipoprotein AI gene: clinical and pathologic features. Am J Gastroenterol 96:1872-1876
9. Persey MR, Booth DR, Booth SE, van Zyl-Smit R, Adams BK, Fattaar AB, Tennent GA, Hawkins PN and Pepys MB (1998). Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I. Kidney Int 53:276-281
10. Hamidi Asl L, Liepnieks JJ, Hamidi Asl K, Uemichi T, Moulin G, Desjoyaux E, Loire R, Delpech M, Grateau G and Benson MD (1999). Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein AI. Am J Pathol 154:221-227
11. Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F and Benson MD (1999). A novel apolipoprotein A-I variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. Biochem Biophys Res Commun 57:584-588
12. Obici L, Bellotti V, Mangione P, Stoppini M, Arbustini E, Verga L, Zorzoli I, Anesi E, Zanotti G, Campana C, Vigano M and Merlini G (1999). The new apolipoprotein A-I variant Leu(174)→Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. Am J Pathol 155:695-702
13. Mangione P, Sunde M, Giorgetti MS, Stoppini M, Esposito G, Gianelli L, Obici L, Asti L, Andreola A, Viglino P, Merlini G and Bellotti V (2001). Amyloid fibrils derived from the apolipoprotein AI Leu174Ser variant contain elements of ordered helical structure. Protein Sci 10:187-199
14. de Sousa MM, Vital C, Ostler D, Femandes R, Pouget-Abadie J, Carles D, Saraiva MJ (2000). Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with Apo AI Leu178 His amyloidosis. Am J Pathol 156:1911-1917
15. Mucchiano GI, Häggqvist B, Sletten K and Westermark P (2001). Apolipoprotein A-I-derived amyloid in atherosclerotic plaques of the human aorta. J Pathol 93: 270-275
16. Johnson KH, Sletten K, Hayden DW, O'Brien TD, Roertgen KE and Westermark P (1992). Pulmonary vascular amyloidosis in aged dogs. A new form of spontaneously occurring amyloidosis derived from apolipoprotein AI. Am J Pathol 141:1013-1019
17. Obici L, Palladini G, Perfetti V, Marciano S, Bruno M, Giorgetti S, Bellotti V, Arbustini E and Merlini G (2001). Molecular characterization of hereditary systemic amyloidosis in Italy: Identification of a novel apolipoprotein AI variant with predominately hepatic phenotype. In Bély M and Apathy A (eds.) Amyloid and Amyloidosis. The Proceedings of the IXth International Symposium on Amyloidosis, pp. 81-83. (Hungary: David Apathy)
18. Murphy CL, Eulitz M, Hrncic R, Sletten K, Westermark, P, Williams T, Macy SD, Wooliver, C, Wall J, Weiss DT and Solomon A (2001). Chemical typing of amyloid protein contained in formalin-fixed paraffin-embedded biopsy specimens. Am J Clin Pathol 116:135-142
19. Seilhamer JJ, Protter AA, Frossard P and Levy-Wilson B (1984). Isolation and DNA sequence of full-length cDNA and of the entire gene for human apolipoprotein AI-discovery of a new genetic polymorphism in the apo AI gene. DNA 3:309-317
20. Rader DJ, Gregg RE, Meng MS, Schaefer JR, Zech LA, Benson MD, Brewer HB Jr (1992). In vivo metabolism of a mutant apolipoprotein, Apo A-I IOWA, associated with hypoalphalipoproteinemia and hereditary systemic amyloidosis. J Lipid Res 33:755-763
21. Tilly-Kiesi M, Packard CJ, Kahri J, Ehnholm C, Shepherd J and Taskinen MR (1997). In vivo metabolism of Apo A-I and Apo A-II in subjects with Apo A-I(Lys 107→0) associated with reduced HDL cholesterol and Lp(AI w AII) deficiency. Atherosclerosis 128:213-222
22. Genschel J, Haas R, Pröpsting MJ and Schmidt H-H (1998). Apolipoprotein A-I induced amyloidosis. FEBS Lett 30:145-149
23. Amarzguioui M, Mucchiano G, Häggqvist B, Westermark P, Kavlie A, Sletten K, Prydz H (1998). Extensive intimal apolipoprotein AI-derived amyloid deposits in a patient with an apolipoprotein AI mutation. Biochem Biophys Res Commun 242:534-539
24. Westermark P, Mucchiano G, Marthin T, Johnson KH and Sletten K. (1995). Apolipoprotein A1-derived amyloid in human aortic atherosclerotic plaques. Am J Pathol 147:1186-1192
25. Westermark P, Sletten K, Johansson B and Cornwell GG III (1990). Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA 87:2843-2845
26. Westermark P, Eriksson L, Engström U, Eneström S and Sletten K (1997). Prolactin-derived amyloid in the aging pituitary gland. Am J Pathol 150:67-73
27. Häggqvist B, Näslund J, Sletten K, Westermark GT, Mucchiano G, Tjernberg LO, Nordstedt C, Engstrom U and Westermark P (1999). Medin: an integral fragment of aortic smooth muscle cell - produced lactadherin forms the most common human amyloid. Proc Natl Acad Sci USA 96:8669-8674
28. Higuchi K, Naiki H, Kitagawa K, Hosokawa M and Takeda T (1991). Mouse senile amyloidosis. ASSAM amyloidosis in mice presents universally as a systemic age-associated amyloidosis. Virchows Arch B Cell Pathol Incl Mol Pathol 60:231-238
29. Yazaki M, Liepnieks JJ, Yamashita T, Guenther B, Skinner M and Benson M (2001). Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene. Kidney Inc 60:1658-1665.
30. Borhani DW, Rogers DP, Engler JA and Brouillette CG (1997). Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation. Proc Natl Acad Sci USA 94:12291-12296
31. Gylling H, Relas H, Miettinen HE, Radhakrishnan R and Miettinen TA (1996). Delayed postprandial retinyl palmitate and squalene removal in a patient heterozygous for apolipoprotein A-IFIN mutation (Leu 159→Arg) and low HDL cholesterol level without coronary artery diseases. Atherosclerosis 127:239-243
32. Leren TP, Bakken KS, Daum U, Ose L, Berg K, Assmann G and von Eckardstein A (1997). Heterozygosity for apolipoprotein A-I (R160L)Oslo is associated with low levels of high density lipoprotein cholesterol and HDL-subclass LpA-I/A-II but normal levels of HDL-subclass LpA-I. J Lipid Res 38:121-131
33. von Eckardstein A, Funke H, Walter M, Altland K, Benninghoven A and Assmann G (1990). Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure. J Biol Chem 265:8610-8617
34. Wisniewski T, Golabek AA, Kida E, Wisniewski KE and Frangione B (1995). Conformational mimicry in Alzheimer's disease. Role of apolipoproteins in amyloidogenesis. Am J Pathol 147: 238-244
35. Frank PG and Marcel YL (2000). Apolipoprotein A-I: structure-function relationships J Lipid Res 41:853-872
36. Bergeron J, Frank PG, Scales D, Meng QH, Castro G and Marcel YL (1995). Apolipoprotein A-I confirmation in reconstituted discoidal lipoproteins varying in phospholipid and cholesterol content. J Biol Chem 270:27429-27438
37. Andreola A, Bellotti V, Giorgetti S, Mangione P, Obici L, Stoppini M, Torres J, Monzani E, Merlini G and Sunde M (2003). Conformational switching and fibrillogenesis in the amy loidogenic fragment of Apolipoprotein A-I. J Biol Chem 278:2444-2451
38. Mucchiano G, Jonasson L, Häggqvist B, Einarsson E and Westermark P (2001 ). Apolipoprotein A-I (Apo A-I) derived amyloid in atherosclerosis. Its association with plasma levels of apolipoprotein A-I and cholesterol. Am J Clin Pathol 115:298-303
39. Suresh Kumar M, Carson M, Mahmood Hussain M and Krishna Murthy HM (2002). Structures of apolipoprotein A-II and a lipid-surrogate complex provide insights into apolipoprotein-lipid interactions. Biochemistry 41:11681-11691
40. Calandra S and Tarugi P (1993). Synthesis and secretion of apolipoprotein A-I. Biochem Soc Trans 21:493-499
41. Gillmore J, Stangou AJ, Tennent G, Booth D, O'Grady J, Rela M, Heaton N, Wall CA, Keogh JA and Hawkins PN (2001). Clinical and biochemical outcome of hepatorenal transplantation for hereditary systemic amyloidosis associated with apolipoprotein AI Gly26Arg. Transplantation 71:986-992
42. Steen L, Holmgren G, Suhr O, Wikström L, Groth C-G and Ericzon B-G (1994). World-wide survey of liver transplantation in patients with familial amyloidotic polyneuropathy. Amyloid: Int J Exp Clin Invest 1:138-142