Neuroferritinopathy: A neurodegenerative disorder associated with L-ferritin mutation

Best Practice and Research: Clinical Haematology

Volumn 18, Issue 2 SPEC. ISS., 2005, Pages 265-276

  Levi, Sonia ^a   Cozzi, Anna ^a   Arosio, Paolo ^b  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

Author keywords

Ferritin; Iron metabolism; Neurodegeneration; Oxidative damage

Indexed keywords

FERRITIN; IRON; IRON REGULATORY FACTOR; NUCLEOTIDE;

AMINO ACID SEQUENCE; ARTICLE; CELLULAR DISTRIBUTION; DEGENERATIVE DISEASE; DOMINANT INHERITANCE; EXTRAPYRAMIDAL SYNDROME; FERRITIN BLOOD LEVEL; GENE INSERTION; GENE MUTATION; HOMEOSTASIS; HUMAN; MOLECULAR BIOLOGY; NEUROFERRITINOPATHY; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

EID: 14544294357     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beha.2004.08.021     Document Type: Review

References (51)

1. A. Bezkorovainy Biochemistry of nonheme iron In E. Freden (ed.) Biochemistry of the Elements 1980 Plenum Press New York 1-23
2. J. Connor J.R. Connor S.L. Menzies et al. Cellular distribution of transferrin, ferritin, and iron in normal and aged human brains Journal of Neuroscience Research 27 4 1990 595-611
3. T.L. Thompson S. Bridges & C. Miller Modulation of dopamine uptake in rat nucleus accumbens: Effect of specific dopamine receptor antagonists and sigma ligands Neuroscience Letters 312 3 2001 169-172
4. A. Pietrangelo Hereditary hemochromatosis - a new look at an old disease The New England Journal of Medicine 350 23 2004 2383-2397
5. T. Moos & E.H. Morgan Evidence for low molecular weight, non-transferrin-bound iron in rat brain and cerebrospinal fluid Journal of Neuroscience Research 54 4 1998 486-494
6. K.J. Thompson S. Shoham & J.R. Connor Iron and neurodegenerative disorders Brain Research Bulletin 55 2 2001 155-164
7. J.T. Coyle & P. Puttfarcken Oxidative stress, glutamate, and neurodegenerative disorders Science 262 5134 1993 689-695
8. Z.M. Qian & X. Shen Brain iron transport and neurodegeneration Trends in Molecular Medicine 7 3 2001 103-108
9. Y. Christen Oxidative stress and Alzheimer disease American Journal of Clinical Nutrition 71 2 2000 621S-629S
10. A.H. Koeppen & A.C. Dickson Iron in the Hallervorden-Spatz syndrome Pediatric Neurology 25 2 2001 148-155
11. Y. Ke & Z. Ming Qian Iron misregulation in the brain: A primary cause of neurodegenerative disorders Lancet Neurology 2 4 2003 246-253
12. X. Xu S. Pin M. Gathinji et al. Aceruloplasminemia: An inherited neurodegenerative disease with impairment of iron homeostasis Annals of the New York Academy of Science 1012 2004 299-305
13. B. Zhou S.K. Westaway B. Levinson et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome Nature Genetics 28 4 2001 345-349
14. M. Pandolfo Friedreich ataxia Seminars in Pediatric Neurology 10 3 2003 163-172
15. T. LaVaute S. Smith S. Cooperman et al. Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice Nature Genetics 27 2001 209-214
16. A.R. Curtis C. Fey C.M. Morris et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease Nature Genetics 28 4 2001 350-354
17. D.E. Crompton P.F. Chinnery C. Fey et al. Neuroferritinopathy: A window on the role of iron in neurodegeneration Blood Cells, Molecules, and Disease 29 3 2002 522-531
18. P.F. Chinnery A.R. Curtis C. Fey et al. Neuroferritinopathy in a French family with late onset dominant dystonia Journal of Medical Genetics 40 5 2003 e69
19. A.J. Wills G.V. Sawle P.R. Guilbert & A.R. Curtis Palatal tremor and cognitive decline in neuroferritinopathy Journal of Neurology Neurosurgery Psychiatry 73 1 2002 91-92
20. B. Felletschin P. Bauer U. Walter et al. Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra Neuroscience Letters 352 1 2003 53-56
21. R. Chen J.W. Langston & P. Chan Screening of ferritin light polypeptide 460-461InsA mutation in Parkinson's disease patients in North America Neuroscience Letters 335 2 2002 144-146
22. R. Vidal M.B. Delisle O. Rascol & B. Ghetti Hereditary ferritinopathy Journal of Neurological Science 207 1/2 2003 110-111
23. R. Vidal B. Ghetti M. Takao C. Brefel-Courbon et al. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene Journal of Neuropathology and Experimental Neurology 63 4 2004 363-380
24. P.M. Harrison & P. Arosio The ferritins: Molecular properties, iron storage function and cellular regulation Biochimica et Biophysica Acta 1275 3 1996 161-203
25. P. Arosio & S. Levi Ferritin, iron homeostasis, and oxidative damage Free Radical Biology and Medicine 33 4 2002 457-463
26. M.W. Hentze & L.C. Kuhn Molecular control of vertebrate iron metabolism: MRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress Proceedings of the National Academy of Sciences of the United States of America 93 16 1996 8175-8182
27. D.M. Lawson A. Treffry P.J. Artymiuk et al. Identification of the ferroxidase centre in ferritin FEBS Letters 254 1/2 1989 207-210
28. P. Santambrogio S. Levi P. Arosio et al. Evidence that a salt bridge in the light chain contributes to the physical stability difference between heavy and light human ferritins The Journal of Biological Chemistry 267 20 1992 14077-14083
29. S. Levi P. Santambrogio A. Cozzi et al. The role of the L-chain in ferritin iron incorporation. Studies of homo and heteropolymers Journal of Molecular Biology 238 5 1994 649-654
30. P. Santambrogio S. Levi A. Cozzi et al. Production and characterization of recombinant heteropolymers of human ferritin H and L chains The Journal of Biological Chemistry 268 17 1993 12744-12748
31. T. Douglas & D.R. Ripoll Calculated electrostatic gradients in recombinant human H-chain ferritin Protein Science 7 5 1998 1083-1091
32. P. Santambrogio P. Pinto S. Levi et al. Effects of modifications near the 2-, 3- and 4-fold symmetry axes on human ferritin renaturation Biochemical Journal 322 Pt 2 1997 461-468
33. S. Levi A. Luzzago F. Franceschinelli et al. Mutational analysis of the channel and loop sequences of human ferritin H-chain Biochemical Journal 264 2 1989 381-388
34. R. Jappelli A. Luzzago P. Tataseo et al. Loop mutations can cause a substantial conformational change in the carboxy terminus of the ferritin protein Journal of Molecular Biology 227 2 1992 532-543
35. A. Luzzago & G. Cesareni Isolation of point mutations that affect the folding of the H chain of human ferritin in E.coli EMBO Journal 8 2 1989 569-576
36. A. Sidoli E. Tamborini I. Giuntini et al. Cloning, expression, and immunological characterization of recombinant Lolium perenne allergen Lol p II The Journal of Biological Chemistry 268 29 1993 21819-21825
37. A. Cozzi B. Corsi & S. Levi Analysis of the biologic functions of H- and L-ferritins in HeLa cells by transfection with siRNAs and cDNAs: evidence for a proliferative role of L-ferritin Blood 103 6 2004 2377-2383
38. D. Girelli C. Bozzini G. Zecchina et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome British Journal of Haematology 115 2001 334-340
39. S. Levi D. Girelli F. Perrone et al. Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome Blood 91 11 1998 4180-4187
40. D.G. Brooks K. Manova-Todorova J. Farmer et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome Investigative Ophthalmology and Visual Science 43 4 2002 1121-1126
41. L. Cremonesi A. Cozzi D. Girelli et al. Case report: A subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms Journal of Medical Genetics 41 6 2004 E81
42. L. Cremonesi B. Foglieni I. Fermo et al. Identification of two novel mutations in the 5(-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning Haematologica 88 10 2003 1110-1116
43. J.R. Connor & S.L. Menzies Cellular management of iron in the brain Journal of the Neurological Science 134 supplement 1995 33-44
44. J.R. Connor B.S. Snyder P. Arosio et al. quantitative analysis of isoferritins in select regions of aged, parkinsonian, and Alzheimer's diseased brains Journal of Neurochemistry 65 2 1995 717-724
45. A.G. Smith P. Carthew J.E. Francis et al. Characterization and accumulation of ferritin in hepatocyte nuclei of mice with iron overload Hepatology 12 6 1990 1399-1405
46. C.X. Cai & T.F. Linsenmayer Nuclear translocation of ferritin in corneal epithelial cells Journal of Cell Science 114 Pt 12 2001 2327-2334
47. P. Cheepsunthorn C. Palmer & J.R. Connor Cellular distribution of ferritin subunits in postnatal rat brain Journal of Comparative Neurology 400 1 1998 73-86
48. D. Pountney G. Trugnan M. Bourgeois & C. Beaumont The identification of ferritin in the nucleus of K562 cells, and investigation of a possible role in the transcriptional regulation of adult beta-globin gene expression Journal of Cell Science 112 Pt 6 1999 825-831
49. K.J. Thompson M.G. Fried Z. Ye et al. Regulation, mechanisms and proposed function of ferritin translocation to cell nuclei Journal of Cell Science 115 Pt 10 2002 2165-2177
50. N. Surguladze K.M. Thompson J.L. Beard et al. Interactions and reactions of ferritin with DNA The Journal of Biological Chemistry 279 15 2004 14694-14702
51. http://psort.ims.u-tokyo.ac.jp/form2.html.