A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient

Behavioral and Brain Functions

Volumn 6, Issue , 2010, Pages

  Gupta, Arnab ^a,c   Chattopadhyay, Ishita ^a   Mukherjee, Shashwata ^a   Sengupta, Mainak ^a   Das, Shyamal K ^b   Ray, Kunal ^a  

^a INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^b BANGUR INSTITUTE OF NEUROSCIENCES   (India)

^c JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER; PENICILLAMINE; PROTEIN COMMD1; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN; CARRIER PROTEIN; COMMD1 PROTEIN, HUMAN;

APOPTOSIS; ARTICLE; CERULOPLASMIN BLOOD LEVEL; CHILD; DISEASE COURSE; DYSTONIA; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERSALIVATION; INVOLUNTARY MOVEMENT; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; MALE; MENTAL DETERIORATION; MENTAL DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SLURRED SPEECH; THR 174 MET; TREATMENT RESPONSE; URINE LEVEL; WILSON DISEASE; CASE REPORT; DNA SEQUENCE; FAMILY; GENETICS; MISSENSE MUTATION; PATHOLOGY; PHENOTYPE; POINT MUTATION; URINE;

APOPTOSIS; BASE SEQUENCE; CARRIER PROTEINS; CHILD; COPPER; FAMILY; GENETIC ASSOCIATION STUDIES; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 77954249307     PISSN: 17449081     EISSN: None     Source Type: Journal    
DOI: 10.1186/1744-9081-6-33     Document Type: Article

References (23)

1. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995, 9:210-217. 10.1038/ng0295-210, 7626145.
2. Sternlieb I. Perspectives on Wilson's disease. Hepatology 1990, 12:1234-1239. 10.1002/hep.1840120526, 2227823.
3. Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY. Function and regulation of human copper-transporting ATPases. Physiol Rev 2007, 87:1011-1046. 10.1152/physrev.00004.2006, 17615395.
4. Forbes JR, Hsi G, Cox DW. Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease. J Biol Chem 1999, 274:12408-12413. 10.1074/jbc.274.18.12408, 10212214.
5. Gupta A, Aikath D, Neogi R, Datta S, Basu K, Maity B, Trivedi R, Ray J, Das SK, Gangopadhyay PK, et al. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet 2005, 118:49-57. 10.1007/s00439-005-0007-y, 16133174.
6. Aikath D, Gupta A, Chattopadhyay I, Hashmi MA, Gangopadhyay PK, Das SK, Ray K. Subcortical white matter abnormalities related to drug resistance in Wilson disease. Neurology 2006, 67:878-880. 10.1212/01.wnl.0000234130.27871.03, 16966556.
7. Brewer GJ, Dick RD, Schall W, Yuzbasiyan-Gurkan V, Mullaney TP, Pace C, Lindgren J, Thomas M, Padgett G. Use of zinc acetate to treat copper toxicosis in dogs. J Am Vet Med Assoc 1992, 201:564-568.
8. van De Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 2002, 11:165-173. 10.1093/hmg/11.2.165, 11809725.
9. Burkhead JL, Morgan CT, Shinde U, Haddock G, Lutsenko S. COMMD1 forms oligomeric complexes targeted to the endocytic membranes via specific interactions with phosphatidylinositol 4,5-bisphosphate. J Biol Chem 2009, 284:696-707. 10.1074/jbc.M804766200, 2610505, 18940794.
10. Tao TY, Liu F, Klomp L, Wijmenga C, Gitlin JD. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 2003, 278:41593-41596. 10.1074/jbc.C300391200, 12968035.
11. Narindrasorasak S, Kulkarni P, Deschamps P, She YM, Sarkar B. Characterization and copper binding properties of human COMMD1 (MURR1). Biochemistry 2007, 46:3116-3128. 10.1021/bi0620656, 17309234.
12. Burstein E, Ganesh L, Dick RD, van De Sluis B, Wilkinson JC, Klomp LW, Wijmenga C, Brewer GJ, Nabel GJ, Duckett CS. A novel role for XIAP in copper homeostasis through regulation of MURR1. EMBO J 2004, 23:244-254. 10.1038/sj.emboj.7600031, 1271669, 14685266.
13. Ganesh L, Burstein E, Guha-Niyogi A, Louder MK, Mascola JR, Klomp LW, Wijmenga C, Duckett CS, Nabel GJ. The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes. Nature 2003, 426:853-857. 10.1038/nature02171, 14685242.
14. Muller PA, van de Sluis B, Groot AJ, Verbeek D, Vonk WI, Maine GN, Burstein E, Wijmenga C, Vooijs M, Reits E, Klomp LW. Nuclear-cytosolic transport of COMMD1 regulates NF-kappaB and HIF-1 activity. Traffic 2009, PMID 19220812.
15. van de Sluis B, Muller P, Duran K, Chen A, Groot AJ, Klomp LW, Liu PP, Wijmenga C. Increased activity of hypoxia-inducible factor 1 is associated with early embryonic lethality in Commd1 null mice. Mol Cell Biol 2007, 27:4142-56. 10.1128/MCB.01932-06, 1900009, 17371845.
16. Weiss KH, Merle U, Schaefer M, Ferenci P, Fullekrug J, Stremmel W. Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels. World J Gastroenterol 2006, 12:2239-2242.
17. Wu ZY, Zhao GX, Chen WJ, Wang N, Wan B, Lin MT, Murong SX, Yu L. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med 2006, 84:438-442. 10.1007/s00109-005-0036-y, 16649058.
18. Coronado VA, Bonneville JA, Nazer H, Roberts EA, Cox DW. COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology. Clin Genet 2005, 68:548-551.
19. Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med 2004, 82:629-634. 10.1007/s00109-004-0557-9, 15205742.
20. Lovicu M, Dessi V, Lepori MB, Zappu A, Zancan L, Giacchino R, Marazzi MG, Iorio R, Vegnente A, Vajro P, et al. The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease. J Gastroenterol 2006, 41:582-587. 10.1007/s00535-006-1807-0, 16868807.
21. Tatusova TA, Madden TL. BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences. FEMS microbiology letters 1999, 174:247-250. 10.1111/j.1574-6968.1999.tb13575.x, 10339815.
22. Mufti AR, Burstein E, Csomos RA, Graf PC, Wilkinson JC, Dick RD, Challa M, Son JK, Bratton SB, Su GL, et al. XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders. Mol Cell 2006, 21:775-785. 10.1016/j.molcel.2006.01.033, 16543147.
23. Matalova E, Sharpe PT, Lakhani SA, Roth KA, Flavell RA, Setkova J, Misek I, Tucker AS. Molar tooth development in caspase-3 deficient mice. Int J Dev Biol 2006, 50:491-497. 10.1387/ijdb.052117em, 16586350.