Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA

Blood

Volumn 90, Issue 2, 1997, Pages 814-821

  Cazzola, Mario ^a   Bergamaschi, Gaetano ^b   Tonon, Laura ^b   Arbustini, Eloisa ^b   Grasso, Maurizia ^b   Vercesi, Elena ^b   Barosi, Giovanni ^b   Bianchi, Paolo Emilio ^b   Cairo, Gaetano ^b   Arosio, Paolo ^b  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN;

ARTICLE; CATARACT; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE ISOLATION; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; IRON KINETICS; IRON STORAGE; MALE; PATHOPHYSIOLOGY; PEDIGREE; PRIORITY JOURNAL;

EID: 0030811101     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.2.814.814_814_821     Document Type: Article

References (36)

1. Lipschitz DA, Cook JD, Finch CA: A clinical evaluation of serum ferritin as an index of iron stores. N Engl J Med 290:1213, 1974
2. Worwood M: Ferritin in human tissues and serum. Clin Haematol 11:275, 1982
3. Santambrogio P, Cozzi A, Levi S, Arosio P: Human serum ferritin G-peptide is recognized by anti-L ferritin subunit antibodies and concanavalin-A, Br J Haematol 65:235, 1987
4. Finch CA, Huebers HA. Perspectives in iron metabolism. N Engl J Med 306:1520, 1982
5. Beaumont C, Simon M, Fauchet R, Fauchet R, Hespel J-P, Brissot P, Genetet B, Bourel M: Serum ferritin as a possible marker for the hemochromatosis allele. N Engl J Med 301:169, 1979
6. Gordeuk V, Mukibi J, Hasstedt SJ, Smowitz W, Edwards CQ, West G, Ndambire S, Emmanual J, Mkanza N, Chapanduka Z, Randall M, Boone P, Romano P, Martell RW, Yamashita T, Effler P, Brittenham G: Iron overload in Africa: Interaction between a gene and dietary iron content. N Engl J Med 326:95, 1992
7. Drysdale J: Ferritin gene expression, in Albertini A, Arosio P, Chiancone E, Drysdale J (eds): Ferritins and Isoferritins as Biochemical Markers. Amsterdam, The Netherlands, Elsevier, 1984, p 87
8. Klausner RD, Rouait TA, Harford JB: Regulating the fate of mRNA: The control of cellular iron metabolism. Cell 72:19, 1993
9. Theil E: Iron regulatory elements (IREs): A family of mRNA non-coding sequences. Biochem J 304:1, 1994
10. Butt J, Kim HY, Basilion JP, Cohen S, Iwai K, Philpott CC, Altschul S, Klausner RD, Rouault TA: Differences in the RNA binding sites of iron regulatory proteins and potential target diversity. Proc Natl Acad Sci USA 93:4345, 1996
11. Girelli D, Oliviero O, De Franceschi L, Corrocher R, Bergamaschi G, Cazzola M: A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol 90:931, 1995
12. Bonneau D, Winter-Fuseau I, Loiseau M-N, Amati P, Bethier M, Oriot D, Beaumont C: Bilateral cataract and high serum ferritin: A new dominant genetic disorder? J Med Genet 32:778, 1995
13. Cazzola M, Beguin Y: New tools for clinical evaluation of erythropoiesis and iron status in man. Br J Haematol 80:278, 1992
14. Beguin Y, Clemons G, Pootrakul P, Fillet G: Quantitative assessment of erythropoiesis and functional classification of anemia based on measurements of serum transferrin receptor and erythropoietin. Blood 81:1067, 1993
15. Flowers CH, Skikne BS, Covell AM, Cook JD: The clinical measurement of serum transferrin receptor. J Lab Clin Med 114:368, 1989
16. Cazzola M, Dezza L, Bergamaschi G, Barosi G, Bellotti V, Caldera D, Ciriello MM, Quaglini S, Arosio P, Ascari E: Biologic and clinical significance of red cell ferritin. Blood 62:1078, 1983
17. Invernizzi R, Cazzola M, De Fazio P, Rosti V, Ruggeri G, Arosio P: Immunocytochemical detection of ferritin in human bone marrow and peripheral blood cells using monoclonal antibodies specific for the H and L subunits. Br J Haematol 76:427, 1990
18. Bergamaschi G, Recalde HR, Ponchio L, Rosti V, Cazzola M: Erythrophagocytosis increases the expression of erythroid potentiating activity (EPA) mRNA in human monocyte-macrophages. Exp Haematol 21:70, 1993
19. Cazzola M, Bergamaschi G, Dezza L, Barosi G, Ascari E: The origin of serum ferritin in acquired transfusional iron overload in adults. Studies with concanavalin A-Sepharose absorption. Haematologica 67:817, 1982
20. Maniatis T, Fritsch EF, Sambrook J: Molecular cloning: A laboratory manual. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1982
21. Santoro C, Marone M, Ferrone M, Costanzo F, Colombo M, Minganti C, Cortese R, Silengo L: Cloning of the gene coding for human L apoferritin. Nucleic Acids Res 14:2863, 1986
22. Roualt TA, Klausner RD: Iron-sulfur clusters as biosensors of oxidants and iron. Trends Biochem Sci 21:174, 1996
23. Henderson BR, Menotti E, Kuhn LC: Iron regulatory proteins 1 and 2 bind distinct sets of RNA target sequences. J Biol Chem 271;4900, 1996
24. Bettany AJE, Eisenstein RS, Munro HN: Mutagenesis of the iron-regulatory element further defines a role for RNA secondary structure in the regulation of ferritin and transferrin receptor expression. J Biol Chem 267:16531, 1992
25. Henderson BR, Menotti E, Bonnard C, Kühn LC: Optimal sequence and structure of iron-responsive elements. Selection of RNA stem-loops with high affinity for iron regulatory factor. J Biol Chem 269:17481, 1994
26. Beaumont C, Leneuve P, Devaux I, Scoazec J-Y, Berthier M, Loiseau M-N, Grandchamp B, Bonneau D: Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 11:444, 1995
27. Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P: Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 86:4050, 1995
28. Aguilar-Martinez P, Biron C, Masmejean C, Jeanjean P, Schved J-F: A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. Blood 88:1895, 1996 (letter)
29. Jaffrey SR, Haile DJ, Klausner RD, Harford JB: The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure. Nucleic Acids Res 21:4627, 1993
30. Kim HY, Lavaute T, Iwai K, Klausner RD, Rouault TA: Identification of a conserved and functional iron-responsive element in the 5′-untranslated region of the mammalian mitochondrial aconitase. J Biol Chem 271:24226, 1996
31. Finch CA, Bellotti V, Stray S, Lipschitz DA, Cook JD, Pippard MJ, Huebers HA: Plasma ferritin determination as a diagnostic tool. West J Med 145:657, 1986
32. Tacchini L, Rappocciolo E, Ferrero M, Schiaffonati L, Cairo G: Ferritin mRNAs on rat liver membrane-bound polysomes synthesize ferritin that does not translocate across membranes. Biochim Biophys Acta 1131:133, 1992
33. Leedman PJ, Stein AR, Chin WW, Rogers JT: Thyroid hormone modulates the interaction between iron regulatory proteins and the ferritin mRNA iron-responsive element. J Biol Chem 271:12017, 1996
34. McGahan MC, Harned J, Grimes AM, Fleisher LN: Regulation of ferritin levels in cultured lens epithelial cells. Exp Eye Res 59:551, 1994
35. Cazzola M, Bergamaschi G, Dezza L, Arosio P: Manipulations of cellular iron metabolism for modulating normal and malignant cell proliferation. Blood 75:1903, 1990
36. Girelli D, Corrocher R, Bisceglia L, Olivieri O, Zelante L, Panozzo G, Gasparini P: Hereditary hyperferritinemia-cataract syndrome due to a 29 bp deletion in the iron-responsive element of L-ferritin gene. Blood 88:489a, 1996 (abstr) (suppl 1)