Genetic variability in copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with Alzheimer's disease in a Chinese population

Journal of Biological Regulators and Homeostatic Agents

Volumn 27, Issue 2, 2013, Pages 319-327

  Liu, H P ^a   Lin, W Y ^a,b   Wang, W F ^c   Tsai, C H ^a,b   Wu, W C ^a   Chiou, M T ^d   Shen, C P ^e   Wu, B T ^a   Tsai, Fuu Jen ^a,b,f  

^a CHINA MEDICAL UNIVERSITY   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^d NATIONAL PINGTUNG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Taiwan)

^e NATIONAL TSING HUA UNIVERSITY   (Taiwan)

^f ASIA UNIVERSITY   (Taiwan)

Author keywords

Alzheimer's disease; ATP7B; Polymorphism

Indexed keywords

COPPER EXPORTING ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN; WILSON DISEASE PROTEIN;

ALLELE; ALZHEIMER DISEASE; ARTICLE; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DNA POLYMORPHISM; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN; GENETICS;

ADENOSINE TRIPHOSPHATASES; ALZHEIMER DISEASE; ASIAN CONTINENTAL ANCESTRY GROUP; CATION TRANSPORT PROTEINS; GENETIC VARIATION; GENOTYPE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84883529683     PISSN: 0393974X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Arguello JM. Identification of ion-selectivity determinants in heavy-metal transport P1B-type ATPases. J Membr Biol 2003; 195(2):93-108. (Pubitemid 37243987)
2. Rosencrantz R, Schilsky M. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis 2011; 31 (3):245-59.
3. Hung IH, Suzuki M, Yamaguchi Y, Yuan DS, Klausner RD, Gitlin JD. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae. J Biol Chem 1997; 272(34):21461-6. (Pubitemid 27374018)
4. Forbes JR, Cox DW. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 2000; 9(13):1927-35. (Pubitemid 30642656)
5. Lovell MA, Robertson JD, Teesdale WJ, Campbell JL, Markesbery WR. Copper, iron and zinc in Alzheimer's disease senile plaques. J Neurol Sci 1998; 158(1):47-52. (Pubitemid 28277534)
6. Deibel MA, Ehmann WD, Markesbery WR. Copper, iron, and zinc imbalances in severely degenerated brain regions in Alzheimer's disease: possible relation to oxidative stress. J Neurol Sci 1996; 143(1-2):137-42. (Pubitemid 26402800)
7. Atwood CS, Scarpa RC, Huang X, Moir RD, Jones WD, Fairlie DP, Tanzi RE, Bush AI. Characterization of copper interactions with alzheimer amyloid beta peptides: identification of an attomolar-affinity copper binding site on amyloid beta 1-42. J Neurochem 2000; 75(3):1219-33. (Pubitemid 30660512)
8. Yoshiike Y, Tanemura K, Murayama O, et al. New insights on how metals disrupt amyloid beta-aggregation and their effects on amyloid-beta cytotoxicity. J Biol Chem 2001; 276(34):32293-9.
9. Huang X, Cuajungco MP, Atwood CS, et al. Cu(II) potentiation of alzheimer abeta neurotoxicity. Correlation with cell-free hydrogen peroxide production and metal reduction. J Biol Chem 1999; 274(52):37111-6.
10. Hung YH, Bush AI, Cherny RA. Copper in the brain and Alzheimer's disease. J Biol Inorg Chem 2010; 15(1):61-76.
11. Huang X, Atwood CS, Hartshorn MA, et al. The A beta peptide of Alzheimer's disease directly produces hydrogen peroxide through metal ion reduction. Biochemistry 1999; 38(24):7609-16. (Pubitemid 29289332)
12. Atwood CS, Moir RD, Huang X, et al. Dramatic aggregation of Alzheimer abeta by Cu(II) is induced by conditions representing physiological acidosis. J Biol Chem 1998; 273(21):12817-26. (Pubitemid 28246837)
13. Cherny RA, Atwood CS, Xilinas ME, et al. Treatment with a copper-zinc chelator markedly and rapidly inhibits beta-amyloid accumulation in Alzheimer's disease transgenic mice. Neuron 2001; 30(3):665-76. (Pubitemid 32607332)
14. Lannfelt L, Blennow K, Zetterberg H, et al. Safety, efficacy, and biomarker findings of PBT2 in targeting Abeta as a modifying therapy for Alzheimer's disease: a phase IIa, double-blind, randomised, placebo-controlled trial. Lancet Neurol 2008; 7(9):779-86.
15. Adlard PA, Cherny RA, Finkelstein DI, et al. Rapid restoration of cognition in Alzheimer's transgenic mice with 8-hydroxy quinoline analogs is associated with decreased interstitial Abeta. Neuron 2008; 59(1):43-55. (Pubitemid 351905863)
16. Bayer TA, Schafer S, Simons A, et al. Dietary Cu stabilizes brain superoxide dismutase 1 activity and reduces amyloid Abeta production in APP23 transgenic mice. Proc Natl Acad Sci U S A 2003; 100(24):14187-92. (Pubitemid 37499212)
17. Phinney AL, Drisaldi B, Schmidt SD, et al. In vivo reduction of amyloid-beta by a mutant copper transporter. Proc Natl Acad Sci U S A 2003; 100(24):14193-8. (Pubitemid 37499213)
18. Cater MA, McInnes KT, Li QX, Volitakis I, La Fontaine S, Mercer JF, Bush AI. Intracellular copper deficiency increases amyloid-beta secretion by diverse mechanisms. Biochem J 2008; 412(1):141-52. (Pubitemid 351678344)
19. White AR, Du T, Laughton KM, et al. Degradation of the Alzheimer disease amyloid beta-peptide by metal-dependent up-regulation of metalloprotease activity. J Biol Chem 2006; 281(26):17670-80. (Pubitemid 44035565)
20. Bucossi S, Polimanti R, Mariani S, et al. Association of K832R and R952K SNPs of Wilson's disease gene with Alzheimer's disease. J Alzheimers Dis 2012; 29(4):913-9.
21. Doreulee N, Yanovsky Y, Haas HL. Suppression of long-term potentiation in hippocampal slices by copper. Hippocampus 1997; 7(6):666-9. (Pubitemid 28021651)
22. Wittke-Thompson JK, Pluzhnikov A, Cox NJ. Rational inferences about departures from Hardy-Weinberg equilibrium. Am J Hum Genet 2005; 76(6):967-86. (Pubitemid 40705433)
23. Wang J, Shete S. A test for genetic association that incorporates information about deviation from Hardy-Weinberg proportions in cases. Am J Hum Genet 2008; 83(1):53-63.
24. Clarke GM, Anderson CA, Pettersson FH, Cardon LR, Morris AP, Zondervan KT. Basic statistical analysis in genetic case-control studies. Nat Protoc 2011; 6(2):121-33.
25. Huster D, Kuhne A, Bhattacharjee A, et al. Diverse functional properties of Wilson disease ATP7B variants. Gastroenterology 2012; 142(4):947-56 e5.
26. Gupta A, Chattopadhyay I, Dey S, Nasipuri P, Das SK, Gangopadhyay PK, Ray K. Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. Cell Mol Neurobiol 2007; 27(8):1023-33. (Pubitemid 351170068)
27. Kenney SM, Cox DW. Sequence variation database for the Wilson disease copper transporter, ATP7B. Hum Mutat 2007; 28(12):1171-7. (Pubitemid 350250380)
28. Squitti R, Barbati G, Rossi L, et al. Excess of non-ceruloplasmin serum copper in AD correlates with MMSE, CSF [beta]-amyloid, and h-tau. Neurology 2006; 67(1):76-82. (Pubitemid 44305465)
29. Squitti R, Lupoi D, Pasqualetti P, et al. Elevation of serum copper levels in Alzheimer's disease. Neurology 2002; 59(8):1153-61. (Pubitemid 35192384)
30. Basun H, Forssell LG, Wetterberg L, Winblad B. Metals and trace elements in plasma and cerebrospinal fluid in normal aging and Alzheimer's disease. J Neural Transm Park Dis Dement Sect 1991; 3(4):231-58.
31. Pajonk FG, Kessler H, Supprian T, et al. Cognitive decline correlates with low plasma concentrations of copper in patients with mild to moderate Alzheimer's disease. J Alzheimers Dis 2005; 8(1):23-7. (Pubitemid 41267320)
32. Kessler H, Pajonk FG, Meisser P, et al. Cerebrospinal fluid diagnostic markers correlate with lower plasma copper and ceruloplasmin in patients with Alzheimer's disease. J Neural Transm 2006; 113(11):1763-9. (Pubitemid 44657672)