Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

Annals of Neurology

Volumn 70, Issue 1, 2011, Pages 170-175

  Catoire, Hélène ^a   Dion, Patrick A ^a,b   Xiong, Lan ^a,b   Amari, Mourabit ^a   Gaudet, Rebecca ^a   Girard, Simon L ^a   Noreau, Anne ^a   Gaspar, Claudia ^a,b   Turecki, Gustavo ^c   Montplaisir, Jacques Y ^b,d   Parker, J Alex ^a,b   Rouleau, Guy A ^a,b,e  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^e UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; RNA;

ARTICLE; BRAIN TISSUE; CAENORHABDITIS ELEGANS; CELL CULTURE; CONTROLLED STUDY; GENE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN CELL; IRON DEFICIENCY; IRON METABOLISM; MEIS1 GENE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTLESS LEGS SYNDROME; RNA INTERFERENCE;

ANEMIA, IRON-DEFICIENCY; ANIMALS; CAENORHABDITIS ELEGANS; CAENORHABDITIS ELEGANS PROTEINS; CELLS, CULTURED; GENETIC VARIATION; HELA CELLS; HOMEODOMAIN PROTEINS; HOMEOSTASIS; HUMANS; IRON; NEOPLASM PROTEINS; RESTLESS LEGS SYNDROME; RISK FACTORS;

EID: 79960837546     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22435     Document Type: Article

References (24)

1. Allen RP, Picchietti D, Hening WA, et al. Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health. Sleep Med 2003; 4: 101-119. (Pubitemid 36527231)
2. Allen RP, Earley CJ,. The role of iron in restless legs syndrome. Mov Disord 2007; 22 (suppl 18): S440-S448.
3. Winkelmann J, Schormair B, Lichtner P, et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 2007; 39: 1000-1006. (Pubitemid 47185185)
4. Vilarino-Guell C, Farrer MJ, Lin SC,. A genetic risk factor for periodic limb movements in sleep. N Engl J Med 2008; 358: 425-427. (Pubitemid 351159253)
5. Xiong L, Catoire H, Dion P, et al. MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Hum Mol Genet 2009; 18: 1065-1074.
6. Romney SJ, Thacker C, Leibold EA,. An iron enhancer element in the FTN-1 gene directs iron-dependent expression in Caenorhabditis elegans intestine. J Biol Chem 2008; 283: 716-725.
7. Van Auken K, Weaver D, Robertson B, et al. Roles of the Homothorax/Meis/Prep homolog UNC-62 and the Exd/Pbx homologs CEH-20 and CEH-40 in C. elegans embryogenesis. Development 2002; 129: 5255-5268. (Pubitemid 35460688)
8. Curran SP, Ruvkun G,. Lifespan regulation by evolutionarily conserved genes essential for viability. PLoS Genet 2007; 3: e56.
9. Harrison PM, Arosio P,. The ferritins: molecular properties, iron storage function and cellular regulation. Biochim Biophys Acta 1996; 1275: 161-203. (Pubitemid 26248989)
10. Gourley BL, Parker SB, Jones BJ, et al. Cytosolic aconitase and ferritin are regulated by iron in Caenorhabditis elegans. J Biol Chem 2003; 278: 3227-3234. (Pubitemid 36801234)
11. Gunshin H, Mackenzie B, Berger UV, et al. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 1997; 388: 482-488. (Pubitemid 27328927)
12. Aisen P,. The transferrin receptor and the release of iron from transferrin. Adv Exp Med Biol 1994; 356: 31-40. (Pubitemid 24348486)
13. Ye Z, Connor JR,. Identification of iron responsive genes by screening cDNA libraries from suppression subtractive hybridization with antisense probes from three iron conditions. Nucleic Acids Res 2000; 28: 1802-1807. (Pubitemid 30199314)
14. Earley CJ, Connor JR, Beard JL, et al. Abnormalities in CSF concentrations of ferritin and transferrin in restless legs syndrome. Neurology 2000; 54: 1698-1700. (Pubitemid 30226823)
15. Allen RP, Barker PB, Wehrl F, et al. MRI measurement of brain iron in patients with restless legs syndrome. Neurology 2001; 56: 263-265. (Pubitemid 32095374)
16. Schmidauer C, Sojer M, Seppi K, et al. Transcranial ultrasound shows nigral hypoechogenicity in restless legs syndrome. Ann Neurol 2005; 58: 630-634. (Pubitemid 41377229)
17. Connor JR, Boyer PJ, Menzies SL, et al. Neuropathological examination suggests impaired brain iron acquisition in restless legs syndrome. Neurology 2003; 61: 304-309. (Pubitemid 36975956)
18. Earley CJ, Allen RP, Beard JL, Connor JR,. Insight into the pathophysiology of restless legs syndrome. J Neurosci Res 2000; 62: 623-628.
19. Mizuno S, Mihara T, Miyaoka T, et al. CSF iron, ferritin and transferrin levels in restless legs syndrome. J Sleep Res 2005; 14: 43-47. (Pubitemid 40396070)
20. Clardy SL, Wang X, Boyer PJ, et al. Is ferroportin-hepcidin signaling altered in restless legs syndrome? J Neurol Sci 2006; 247: 173-179. (Pubitemid 44339542)
21. Buys SS, Martin CB, Eldridge M, et al. Iron absorption in hypotransferrinemic mice. Blood 1991; 78: 3288-3290.
22. Burdo JR, Menzies SL, Simpson IA, et al. Distribution of divalent metal transporter 1 and metal transport protein 1 in the normal and Belgrade rat. J Neurosci Res 2001; 66: 1198-1207. (Pubitemid 33135606)
23. Thompson KJ, Fried MG, Ye Z, et al. Regulation, mechanisms and proposed function of ferritin translocation to cell nuclei. J Cell Sci 2002; 115: 2165-2177. (Pubitemid 34746382)
24. Fisher J, Devraj K, Ingram J, et al. Ferritin: a novel mechanism for delivery of iron to the brain and other organs. Am J Physiol Cell Physiol 2007; 293: C641-C649. (Pubitemid 47235186)