Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

American Journal of Human Genetics

Volumn 90, Issue 3, 2012, Pages 467-477

  Quadri, Marialuisa ^a   Federico, Antonio ^b   Zhao, Tianna ^a   Breedveld, Guido J ^a   Battisti, Carla ^b   Delnooz, Cathérine ^c   Severijnen, Lies Anne ^a   Di Toro Mammarella, Lara ^b   Mignarri, Andrea ^b   Monti, Lucia ^d   Sanna, Antioco ^d   Lu, Peng ^e   Punzo, Francesca ^a,f   Cossu, Giovanni ^g   Willemsen, Rob ^a   Rasi, Fabrizio ^h   Oostra, Ben A ^a   Van De Warrenburg, Bart P ^c   Bonifati, Vincenzo ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF SIENA   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY HOSPITAL OF SIENA   (Italy)

^e SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^f SECOND UNIVERSITY OF NAPLES   (Italy)

^g San Michele Hospital   (Italy)

^h SANTA MARIA DELLE CROCI HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; EDETATE CALCIUM DISODIUM; PRAMIPEXOLE;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADULT; AGED; ARTICLE; BASAL GANGLION; CASE REPORT; CHELATION THERAPY; CHRONIC LIVER DISEASE; DYSTONIA; FATTY LIVER; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERMANGANESEMIA; LIVER CIRRHOSIS; MALE; NUCLEOTIDE SEQUENCE; PARKINSONISM; PHENOTYPE; POLYCYTHEMIA; PRIORITY JOURNAL; SLC30A10 GENE;

AGED; AMINO ACID SEQUENCE; BRAIN; CATION TRANSPORT PROTEINS; CHROMOSOME MAPPING; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HEP G2 CELLS; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; LIVER; MALE; MANGANESE; MANGANESE POISONING; MEMBRANE TRANSPORT PROTEINS; METABOLIC DISEASES; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PARKINSONIAN DISORDERS; PHENOTYPE; SEQUENCE ALIGNMENT; TUMOR CELLS, CULTURED;

EID: 84858074257     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.01.017     Document Type: Article

References (24)

1. J.A. Roth Homeostatic and toxic mechanisms regulating manganese uptake, retention, and elimination Biol. Res. 39 2006 45 57
2. A.B. Bowman, G.F. Kwakye, E.H. Hernández, and M. Aschner Role of manganese in neurodegenerative diseases J. Trace Elem. Med. Biol. 25 2011 191 203
3. C.C. Huang, N.S. Chu, C.S. Lu, J.D. Wang, J.L. Tsai, J.L. Tzeng, E.C. Wolters, and D.B. Calne Chronic manganese intoxication Arch. Neurol. 46 1989 1104 1106
4. R.F. Butterworth Metal toxicity, liver disease and neurodegeneration Neurotox. Res. 18 2010 100 105
5. J.A. Chalela, L. Bonillha, R. Neyens, and A. Hays Manganese encephalopathy: An under-recognized condition in the intensive care unit Neurocrit. Care 14 2011 456 458
6. Y. Sanotsky, R. Lesyk, L. Fedoryshyn, I. Komnatska, Y. Matviyenko, and S. Fahn Manganic encephalopathy due to "ephedrone" abuse Mov. Disord. 22 2007 1337 1343
7. A. Stepens, I. Logina, V. Liguts, P. Aldins, I. Eksteina, A. Platkjis, I. Mrtinsone, E. Trauds, B. Rozentle, and M. Donaghy A Parkinsonian syndrome in methcathinone users and the role of manganese N. Engl. J. Med. 358 2008 1009 1017
8. D.B. Calne, N.S. Chu, C.C. Huang, C.S. Lu, and W. Olanow Manganism and idiopathic parkinsonism: Similarities and differences Neurology 44 1994 1583 1586
9. C.C. Huang, N.S. Chu, C.S. Lu, R.S. Chen, M. Schulzer, and D.B. Calne The natural history of neurological manganism over 18 years Parkinsonism Relat. Disord. 13 2007 143 145
10. K. Tuschl, P.B. Mills, H. Parsons, M. Malone, D. Fowler, M. Bitner-Glindzicz, and P.T. Clayton Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-A new metabolic disorder J. Inherit. Metab. Dis. 31 2008 151 163
11. S.M. Gospe Jr., R.D. Caruso, M.S. Clegg, C.L. Keen, N.R. Pimstone, J.M. Ducore, S.S. Gettner, and R.A. Kreutzer Paraparesis, hypermanganesaemia, and polycythaemia: A novel presentation of cirrhosis Arch. Dis. Child. 83 2000 439 442
12. P. Brna, K. Gordon, J.M. Dooley, and V. Price Manganese toxicity in a child with iron deficiency and polycythemia J. Child Neurol. 26 2011 891 894
13. S. Fahn, R.L. Elton Members of the UPDRS Development Committee Unified Parkinson's Disease Rating Scale. Recent Developments in Parkinson's Disease 1987 Macmillan New York pp. 153-163
14. B. Montanini, D. Blaudez, S. Jeandroz, D. Sanders, and M. Chalot Phylogenetic and functional analysis of the Cation Diffusion Facilitator (CDF) family: Improved signature and prediction of substrate specificity BMC Genomics 8 2007 107
15. E. Ohana, E. Hoch, C. Keasar, T. Kambe, O. Yifrach, M. Hershfinkel, and I. Sekler Identification of the Zn2+ binding site and mode of operation of a mammalian Zn2+ transporter J. Biol. Chem. 284 2009 17677 17686
16. R.D. Palmiter, and S.D. Findley Cloning and functional characterization of a mammalian zinc transporter that confers resistance to zinc EMBO J. 14 1995 639 649
17. A. Fukunaka, T. Suzuki, Y. Kurokawa, T. Yamazaki, N. Fujiwara, K. Ishihara, H. Migaki, K. Okumura, S. Masuda, and Y. Yamaguchi-Iwai Demonstration and characterization of the heterodimerization of ZnT5 and ZnT6 in the early secretory pathway J. Biol. Chem. 284 2009 30798 30806
18. E. Delhaize, T. Kataoka, D.M. Hebb, R.G. White, and P.R. Ryan Genes encoding proteins of the cation diffusion facilitator family that confer manganese tolerance Plant Cell 15 2003 1131 1142
19. S. Devergnas, F. Chimienti, N. Naud, A. Pennequin, Y. Coquerel, J. Chantegrel, A. Favier, and M. Seve Differential regulation of zinc efflux transporters ZnT-1, ZnT-5 and ZnT-7 gene expression by zinc levels: A real-time RT-PCR study Biochem. Pharmacol. 68 2004 699 709
20. C. Urani, P. Melchioretto, and L. Gribaldo Regulation of metallothioneins and ZnT-1 transporter expression in human hepatoma cells HepG2 exposed to zinc and cadmium Toxicol. In Vitro 24 2010 370 374
21. S. Sreedharan, O. Stephansson, H.B. Schiöth, and R. Fredriksson Long evolutionary conservation and considerable tissue specificity of several atypical solute carrier transporters Gene 478 2011 11 18
22. M. Seve, F. Chimienti, S. Devergnas, and A. Favier In silico identification and expression of SLC30 family genes: An expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression BMC Genomics 5 2004 32
23. B.L. Ebert, and H.F. Bunn Regulation of the erythropoietin gene Blood 94 1999 1864 1877
24. R.F. Pfeiffer Wilson's disease Handb. Clin. Neurol. 100 2011 681 709