Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences

Journal of the Neurological Sciences

Volumn 227, Issue 1, 2004, Pages 27-33

  Wang, Xin Sheng ^a   Lee, Sang ^a   Simmons, Zachary ^a   Boyer, Philip ^b   Scott, Kevin ^a   Liu, Wenlei ^a   Connor, James ^a  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Hfe mutation; Iron; Oxidative stress; SOD1

Indexed keywords

ACTIN; COPPER ZINC SUPEROXIDE DISMUTASE; HEMOCHROMATOSIS PROTEIN; PROTEIN; TUBULIN; UNCLASSIFIED DRUG;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NERVE CELL; NERVE FIBER TRANSPORT; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

AGE OF ONSET; AMINO ACIDS; AMYOTROPHIC LATERAL SCLEROSIS; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CELL LINE, TUMOR; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENOTYPE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; INCIDENCE; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEUROBLASTOMA; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SUPEROXIDE DISMUTASE; TRANSFECTION;

EID: 8544253952     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2004.08.003     Document Type: Article

References (34)

1. P.M. Andersen Genetics of sporadic ALS Amyotroph. Lateral Scler. Other Mot. Neuron Disord. 2 Suppl. 1 2001 S37 S41
2. M.E. Cudkowicz, D. McKenna-Yasek, P.E. Sapp, W. Chin, B. Geller, and D.L. Hayden Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis Ann. Neurol. 41 2 1997 210 221
3. S. Hadano, C.K. Hand, H. Osuga, Y. Yanagisawa, A. Otomo, and R.S. Devon A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 Nat. Genet. 29 2 2001 166 173
4. Y. Yang, A. Hentati, H.X. Deng, O. Dabbagh, T. Sasaki, and M. Hirano The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis Nat. Genet. 29 2 2001 160 165
5. M.R. Cookson, and P.J. Shaw Oxidative stress and motor neurone disease Brain Pathol. 9 1 1999 165 186
6. C.W. Olanow, and G.W. Arendash Metals and free radicals in neurodegeneration Curr. Opin. Neurol. 7 6 1994 548 558
7. O.I. Aruoma, H. Kaur, and B. Halliwell Oxygen free radicals and human diseases J. R. Soc. Health 111 5 1991 172 177
8. A.T. Merryweather-Clarke, J.J. Pointon, J.D. Shearman, and K.J. Robson Global prevalence of putative haemochromatosis mutations J. Med. Genet. 34 4 1997 275 278
9. J.R. Connor, E.A. Milward, S. Moalem, M. Sampietro, P. Boyer, and M.E. Percy Is hemochromatosis a risk factor for Alzheimer's disease? J. Alzheimer's Dis. 3 5 2001 471 477
10. J.M. Bastin, M. Jones, C.A. O'Callaghan, L. Schimanski, D.Y. Mason, and AR. Townsend Kupffer cell staining by an HFE-specific monoclonal antibody: implications for hereditary haemochromatosis Br. J. Haematol. 103 4 1998 931 941
11. S. Moalem, M.E. Percy, D.F. Andrews, T.P. Kruck, S. Wong, and A.J. Dalton Erratum: are hereditary hemochromatosis mutations involved in Alzheimer disease? Am. J. Med. Genet. 95 2 2000 189
12. S. Moalem, M.E. Percy, D.F. Andrews, T.P. Kruck, S. Wong, and A.J. Dalton Are hereditary hemochromatosis mutations involved in Alzheimer disease? Am. J. Med. Genet. 93 1 2000 58 66
13. J.F. Pulliam, C.D. Jennings, R.J. Kryscio, D.G. Davis, D. Wilson, and T.J. Montine Association of HFE mutations with neurodegeneration and oxidative stress in Alzheimer's disease and correlation with APOE Am. J. Med. Genet. 119B 1 2003 48 53
14. O. Combarros, M. Garcia-Roman, A. Fontalba, J.L. Fernandez-Luna, J. Llorca, and J. Infante Interaction of the H63D mutation in the hemochromatosis gene with the apolipoprotein E epsilon 4 allele modulates age at onset of Alzheimer's disease Dement. Geriatr. Cogn. Disord. 15 3 2003 151 154
15. M. Sampietro, L. Caputo, A. Casatta, M. Meregalli, A. Pellagatti, and J. Tagliabue The hemochromatosis gene affects the age of onset of sporadic Alzheimer's disease Neurobiol. Aging 22 4 2001 563 568
16. A.A. Yen, E.P. Simpson, J.S. Henkel, D.R. Beers, and S.H. Appel HFE mutations are not strongly associated with sporadic ALS Neurology 62 9 2004 1611 1612
17. B.R. Brooks, R.G. Miller, M. Swash, and T.L. Munsat El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis Amyotroph. Lateral Scler. Other Mot. Neuron Disord. 1 5 2000 293 299
18. Z. Simmons, B.L. Peterlin, P.J. Boyer, and J. Towfighi Muscle biopsy in the evaluation of patients with modestly elevated creatine kinase levels Muscle Nerve 27 2 2003 242 244
19. J.N. Feder, Z. Tsuchihashi, A. Irrinki, V.K. Lee, F.A. Mapa, and E. Morikang The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression J. Biol. Chem. 272 22 1997 14025 14028
20. L.S. Ro, S.L. Lai, C.M. Chen, and S.T. Chen Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study Muscle Nerve 28 6 2003 737 743
21. K.J. Thompson, S. Shoham, and J.R. Connor Iron and neurodegenerative disorders Brain Res. Bull. 55 2 2001 155 164
22. J.R. Connor, and S.L. Menzies Cellular management of iron in the brain J. Neurol. Sci. 134 1995 33 44 [Suppl]
23. A.T. Merryweather-Clarke, J.J. Pointon, A.M. Jouanolle, J. Rochette, and K.J. Robson Geography of HFE C282Y and H63D mutations Genet. Test. 4 2 2000 183 198
24. M.C. Dekker, P.C. Giesbergen, O.T. Njajou, J.C. van Swieten, A. Hofman, and M.M. Breteler Mutations in the hemochromatosis gene (HFE). Parkinson's disease and parkinsonism Neurosci. Lett. 348 2 2003 117 119
25. C.N. Roy, D.M. Penny, J.N. Feder, and C.A. Enns The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells J. Biol. Chem. 274 13 1999 9022 9028
26. B. Corsi, S. Levi, A. Cozzi, A. Corti, D. Altimare, and A. Albertini Overexpression of the hereditary hemochromatosis protein, HFE, in HeLa cells induces and iron-deficient phenotype FEBS Lett. 460 1 1999 149 152
27. J.N. Feder, A. Gnirke, W. Thomas, Z. Tsuchihashi, D.A. Ruddy, and A. Basava A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nat. Genet. 13 4 1996 399 408
28. J.N. Feder, D.M. Penny, A. Irrinki, V.K. Lee, J.A. Lebron, and N. Watson The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding Proc. Natl. Acad. Sci. U.S.A. 95 4 1998 1472 1477
29. A. Hirano, I. Nakano, L.T. Kurland, D.W. Mulder, P.W. Holley, and G. Saccomanno Fine structural study of neurofibrillary changes in a family with amyotrophic lateral sclerosis J. Neuropathol. Exp. Neurol. 43 5 1984 471 480
30. G.A. Rouleau, A.W. Clark, K. Rooke, A. Pramatarova, A. Krizus, and O. Suchowersky SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis Ann. Neurol. 39 1 1996 128 131
31. L.I. Bruijn, M.W. Becher, M.K. Lee, K.L. Anderson, N.A. Jenkins, and N.G. Copeland ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions Neuron 18 2 1997 327 338
32. P.C. Wong, C.A. Pardo, D.R. Borchelt, M.K. Lee, N.G. Copeland, and N.A. Jenkins An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria Neuron 14 6 1995 1105 1116
33. T.L. Williamson, and D.W. Cleveland Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons Nat. Neurosci. 2 1 1999 50 56
34. C.A. Farah, M.D. Nguyen, J.P. Julien, and N. Leclerc Altered levels and distribution of microtubule-associated proteins before disease onset in a mouse model of amyotrophic lateral sclerosis J. Neurochem. 84 1 2003 77 86