DMT1 polymorphism and risk of Parkinson's disease

Neuroscience Letters

Volumn 501, Issue 3, 2011, Pages 128-131

  He, Qing ^a   Du, Tingting ^a   Yu, Xiaojun ^a   Xie, Anmu ^b   Song, Ning ^a   Kang, Qi ^a   Yu, Jintai ^c   Tan, Lan ^c   Xie, Junxia ^a   Jiang, Hong ^a  

^a QINGDAO UNIVERSITY MEDICAL COLLEGE   (China)

^b QINGDAO UNIVERSITY   (China)

^c QINGDAO MUNICIPAL HOSPITAL   (China)

Author keywords

DMT1; Parkinson's disease; Polymorphism

Indexed keywords

NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; NUCLEOTIDE;

AGED; ALLELE; ARTICLE; CHINESE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; POPULATION; PRIORITY JOURNAL; PROTEIN POLYMORPHISM; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK; SAMPLE; SEQUENCE ANALYSIS; VALIDATION PROCESS;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TRANSCRIPTION FACTORS;

EID: 79961207947     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2011.07.001     Document Type: Article

References (30)

1. Andrews N.C. Iron metabolism: iron deficiency and iron overload. Annu. Rev. Genomics Hum. Genet. 2000, 1:75-98.
2. Calne D.B., Snow B.J., Lee C. Criteria for diagnosing Parkinson's disease. Ann. Neurol. 1992, 32(Suppl.):S125-S127.
3. Canonne-Hergaux F., Gruenheid S., Ponka P., Gros P. Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. Blood 1999, 93:4406-4417.
4. Fratiglioni L., Qiu C. Prevention of common neurodegenerative disorders in the elderly. Exp. Gerontol. 2009, 44:46-50.
5. Gotz M.E., Double K., Gerlach M., Youdim M.B., Riederer P. The relevance of iron in the pathogenesis of Parkinson's disease. Ann. N. Y. Acad. Sci. 2004, 1012:193-208.
6. Groen J.L., Kawarai T., Toulina A., Rivoiro C., Salehi-Rad S., Sato C., Morgan A., Liang Y., Postuma R.B., St George-Hyslop P., Lang A.E., Rogaeva E. Genetic association study of PINK1 coding polymorphisms in Parkinson's disease. Neurosci. Lett. 2004, 372:226-229.
7. He Q., Song N., Xu H., Wang R., Xie J., Jiang H. Alpha-synuclein aggregation is involved in the toxicity induced by ferric iron to SK-N-SH neuroblastoma cells. J. Neural Transm. 2010, 118:397-406.
8. Iolascon A., d'Apolito M., Servedio V., Cimmino F., Piga A., Camaschella C. Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). Blood 2006, 107:349-354.
9. Iolascon A., De Falco L. Mutations in the gene encoding DMT1: clinical presentation and treatment. Semin. Hematol. 2009, 46:358-370.
10. Jiang H., Qian Z.M., Xie J.X. Increased DMT1 expression and iron content in MPTP-treated C57BL/6 mice. Sheng Li Xue Bao 2003, 55:571-576.
11. Jiang H., Song N., Wang J., Ren L.Y., Xie J.X. Peripheral iron dextran induced degeneration of dopaminergic neurons in rat substantia nigra. Neurochem. Int. 2007, 51:32-36.
12. Jiang H., Song N., Xu H., Zhang S., Wang J., Xie J. Up-regulation of divalent metal transporter 1 in 6-hydroxydopamine intoxication is IRE/IRP dependent. Cell Res. 2010, 20:345-356.
13. Kelleher T., Ryan E., Barrett S., O'Keane C., Crowe J. DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis. Blood Cells Mol. Dis. 2004, 33:35-39.
14. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S., Yokochi M., Mizuno Y., Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998, 392:605-608.
15. Lee P., Gelbart T., West C., Halloran C., Beutler E. Seeking candidate mutations that affect iron homeostasis. Blood Cells Mol. Dis. 2002, 29:471-487.
16. Lee P.L., Gelbart T., West C., Halloran C., Beutler E. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. Blood Cells Mol. Dis. 1998, 24:199-215.
17. Mancuso C., Scapagini G., Curro D., Giuffrida Stella A.M., De Marco C., Butterfield D.A., Calabrese V. Mitochondrial dysfunction, free radical generation and cellular stress response in neurodegenerative disorders. Front. Biosci. 2007, 12:1107-1123.
18. Mizuta I., Satake W., Nakabayashi Y., Ito C., Suzuki S., Momose Y., Nagai Y., Oka A., Inoko H., Fukae J., Saito Y., Sawabe M., Murayama S., Yamamoto M., Hattori N., Murata M., Toda T. Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum. Mol. Genet. 2006, 15:1151-1158.
19. Ostrerova-Golts N., Petrucelli L., Hardy J., Lee J.M., Farer M., Wolozin B. The, A53T alpha-synuclein mutation increases iron-dependent aggregation and toxicity. J. Neurosci. 2000, 20:6048-6054.
20. Rhodes S.L., Ritz B. Genetics of iron regulation and the possible role of iron in Parkinson's disease. Neurobiol. Dis. 2008, 32:183-195.
21. Salazar J., Mena N., Hunot S., Prigent A., Alvarez-Fischer D., Arredondo M., Duyckaerts C., Sazdovitch V., Zhao L., Garrick L.M., Nunez M.T., Garrick M.D., Raisman-Vozari R., Hirsch E.C. Divalent metal transporter 1 (DMT1) contributes to neurodegeneration in animal models of Parkinson's disease. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:18578-18583.
22. Sofic E., Riederer P., Heinsen H., Beckmann H., Reynolds G.P., Hebenstreit G., Youdim M.B. Increased iron (III) and total iron content in post mortem substantia nigra of parkinsonian brain. J. Neural Transm. 1988, 74:199-205.
23. Stokkers P.C., Huibregtse K., Leegwater A.C., Reitsma P.H., Tytgat G.N., van Deventer S.J. Analysis of a positional candidate gene for inflammatory bowel disease: NRAMP2. Inflamm. Bowel Dis. 2000, 6:92-98.
24. Tang B., Xiong H., Sun P., Zhang Y., Wang D., Hu Z., Zhu Z., Ma H., Pan Q., Xia J.H., Xia K., Zhang Z. Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. Hum. Mol. Genet. 2006, 15:1816-1825.
25. Valente E.M., Abou-Sleiman P.M., Caputo V., Muqit M.M., Harvey K., Gispert S., Ali Z., Del Turco D., Bentivoglio A.R., Healy D.G., Albanese A., Nussbaum R., Gonzalez-Maldonado R., Deller T., Salvi S., Cortelli P., Gilks W.P., Latchman D.S., Harvey R.J., Dallapiccola B., Auburger G., Wood N.W. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004, 304:1158-1160.
26. Vidal S., Belouchi A.M., Cellier M., Beatty B., Gros P. Cloning and characterization of a second human NRAMP gene on chromosome 12q13. Mamm. Genome 1995, 6:224-230.
27. Winkler S., Hagenah J., Lincoln S., Heckman M., Haugarvoll K., Lohmann-Hedrich K., Kostic V., Farrer M., Klein C. Alpha-synuclein and Parkinson disease susceptibility. Neurology 2007, 69:1745-1750.
28. Xiong L., Dion P., Montplaisir J., Levchenko A., Thibodeau P., Karemera L., Riviere J.B., St-Onge J., Gaspar C., Dube M.P., Desautels A., Turecki G., Rouleau G.A. Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007, 144B:911-917.
29. Xu X., Li D., He Q., Gao J., Chen B., Xie A. Interleukin-18 promoter polymorphisms and risk of Parkinson's disease in a Han Chinese population. Brain Res. 2011, 1381:90-94.
30. Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., Kachergus J., Hulihan M., Uitti R.J., Calne D.B., Stoessl A.J., Pfeiffer R.F., Patenge N., Carbajal I.C., Vieregge P., Asmus F., Muller-Myhsok B., Dickson D.W., Meitinger T., Strom T.M., Wszolek Z.K., Gasser T. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004, 44:601-607.