A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload

Haematologica

Volumn 94, Issue 3, 2009, Pages 335-339

  Kannengiesser, Caroline ^a,c   Jouanolle, Anne Marie ^b   Hetet, Gilles ^a   Mosser, Annick ^b   Muzeau, Françhise ^c   Henry, Dominique ^a   Bardou Jacquet, Edouard ^b   Mornet, Martine ^d   Brissot, Pierre ^b   Deugnier, Yves ^b   Grandchamp, Bernard ^a,c   Beaumont, Carole ^c  

^a BICHAT HOSPITAL   (France)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^d RENNES UNIVERSITY HOSPITAL   (France)

Author keywords

Glycosylated ferritin; Hyperferritinemia; Iron overload; L ferritin

Indexed keywords

FERRITIN; IRON;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; CRYSTAL STRUCTURE; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GLYCOSYLATION; HETEROZYGOSITY; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; IRON RESPONSIVE ELEMENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CHILD; FAMILY HEALTH; FEMALE; FERRITINS; GLYCOSYLATION; HETEROZYGOTE; HUMANS; IRON OVERLOAD; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; YOUNG ADULT;

EID: 62949207161     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2008.000125     Document Type: Article

References (23)

1. 1.Harrison PM, Arosio P. The ferritins: molecular properties iron storage function and cellular regulation. Biochim Biophys Acta 1996;1275:161-203.
2. 2.Hentze MW, Kuhn LC. Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc Natl Acad Sci USA 1996;93:8175-82.
3. 3.Worwood M. Serum ferritin. CRC Crit Rev Clin Lab Sci 1979;10:171-204.
4. 4.Aguilar-Martinez P, Schved JF, Brissot P. The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities. Am J Gastroenterol 2005; 100: 1185-94.
5. 5.Bonneau D, Winter-Fuseau I, Loiseau MN, Amati P, Berthier M, Oriot D, Beaumont C. Bilateral cataract and high serum ferritin: a new dominant genetic disorder?-J Med Genet 1995; 32:778-9.
6. Beaumont C, Leneuve P, Devaux I, Scoazec JY, Berthier M, Loiseau MN, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995; 11:444-6.
7. 7.Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P. Molecular basis for the recently described hereditary hyper-ferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 1995;86:4050-3.
8. 8.Cazzola M, Foglieni B, Bergamaschi G, Levi S, Lazzarino M, Arosio P. A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome. Br J Haematol 2002;116:667-70.
9. 9.Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slcllA3) mutations. Blood 2003;102:1904-10.
10. 10.Worwood M, Cragg SJ, Wagstaff M, Jacobs A. Binding of human serum ferritin to concanavalin A. Clin Sci (Lond) 1979;56:83-7.
11. 11.Worwood M. Ferritin in human tissues and serum. Clin Haematol 1982; 11:275-307.
12. 12.Vignes S, Le Moel G, Fautrel B, Wechsler B, Godeau P, Piette JC. Percentage of glycosylated serum ferritin remains low throughout the course of adult onset StilPs disease. Ann Rheum Dis 2000;59:347-50.
13. 13.Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 2000;95:3280-8.
14. 14.Levi S, Girelli D, Perrone F, Pasti M, Beaumont C, Corrocher R, et al. Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome. Blood 1998; 91:4180-7.
15. 15.Brooks DG, Manova-Todorova K, Farmer J, Lobmayr L, Wilson RB, Eagle RC Jr, et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Invest Ophthalmol Vis Sci 2002;43:1121-6.
16. 16.Levi S, Cozzi A, Arosio P. Neuro-ferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation. Best Pract Res Clin Haematol 2005;18:265-76.
17. 17.Foglieni B, Ferrari F, Goldwurm S, Santambrogio P, Castiglioni E, Sessa M, et al. Analysis of ferritin genes in Parkinson disease. Clin Chem Lab Med 2007;45:1450-6.
18. 18.Wang Z, Li C, Ellenburg M, Soistman E, Ruble J, Wright B, et al. Structure of human ferritin L chain. Acta Cry-stallogr D Biol Crystallogr 2006; 62:800-6.
19. 19.Cragg SJ, Wagstaff M, Worwood M. Sialic acid and the microheterogeneity of human serum ferritin. Clin Sci (Lond) 1980;58:259-62.
20. 20.Cragg SJ, Wagstaff M, Worwood M. etection of a glycosylated subunit in human serum ferritin. Biochem J 1981;199:565-71.
21. 21.Ghosh S, Hevi S, Chuck SL. Regulate secretion of glycosylated human ferritin from hepatocytes. Blood 2004; 103:2369-76.
22. 22.von Heijne G, Liljestrom P, Mikus P, Andersson H, Ny T. The efficiency of the uncleaved secretion signal in the plasminogen activator inhibitor type 2 protein can be enhanced by point mutations that increase its hydropho-bicity. J Biol Chem 1991;266:15240-3.
23. 23.Gaboriaud C, Bissery V, Benchetrit T, Mornon JP. Hydrophobic cluster analysis: an efficient new way to compare and analyse amino acid sequences. FEBS Lett 1987;224:149-55.