Biometals in rare neurodegenerative disorders of childhood

Frontiers in Aging Neuroscience

Volumn 5, Issue MAR, 2013, Pages

  Parker, Sarah J ^a   Koistinaho, Jari ^a   White, Anthony R ^b   Kanninen, Katja M ^a,b  

^a UNIVERSITY OF EASTERN FINLAND   (Finland)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER; COPPER EXPORTING ADENOSINE TRIPHOSPHATASE; COPPER ZINC SUPEROXIDE DISMUTASE; DEFERIPRONE; IRON; MENKES PROTEIN; OXYGENASE; SCAVENGER; ZINC;

AGING; BLOOD BRAIN BARRIER; CHILDHOOD DISEASE; COPPER BLOOD LEVEL; COPPER METABOLISM; DEGENERATIVE DISEASE; DRUG EFFICACY; ENDOPLASMIC RETICULUM; HUMAN; IRON BLOOD LEVEL; MENKES SYNDROME; NERVE DEGENERATION; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; REVIEW; SPONTANEOUS MUTATION; TRANS GOLGI NETWORK; WILSON DISEASE; ZINC BLOOD LEVEL;

EID: 84883504847     PISSN: None     EISSN: 16634365     Source Type: Journal    
DOI: 10.3389/fnagi.2013.00014     Document Type: Review

References (86)

1. Anzil, A., Herrlinger, H., Blinzinger, K., and Heldrich, A. (1974). Ultrastructure of brain and nerve biopsy tissue in wilson disease. Arch. Neurol. 31, 94-100.
2. Barry, A., Otoikhian, A., Bhatt, S., Shinde, U., Tsivkovskii, R., Blackburn, N. J., et al. (2011). The lumenal loop Met672-Pro707 of copper-transporting ATPase ATP7A binds metals and facilitates copper release from the intramembrane sites. J. Biol. Chem. 286, 26585-26594.
3. Batista-Nascimento, L., Pimentel, C., Menezes, R., and Rodrigues-Pousada, C. (2012). Iron and neurodegeneration: from cellular homeostasis to disease. Oxid. Med. Cell. Longev. 2012:128647. doi: 10.1155/2012/128647
4. Bearn, A., and Kunkel, H. (1954). Abnormalities of copper metabolism in wilson's disease and their relationship to the aminoaciduria. J. Clin. Invest. 33, 400-409.
5. Bolam, J., Hanley, J., Booth, P., and Bevan, M. (2000). Synaptic organisation of the basal ganglia. J. Anat. 196(Pt 4), 527-542.
6. Borm, B., Moller, L., Hausser, I., Emeis, M., Baerlocher, K., Horn, N., et al. (2004). Variable clinical expression of an identical mutation in the ATP7A gene for menkes disease/occipital horn syndrome in three affected males in a single family. J. Pediatr. 145, 119-121.
7. Brittenham, G. (1992). Development of iron-chelating agents for clinical use. Blood 80, 569-574.
8. Brunetti, D., Dusi, S., Morbin, M., Uggetti, A., Moda, F., D'Amato, I., et al. (2012). Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. Hum. Mol. Genet. 21, 5294-5305.
9. Buiakova, O. I., Xu, J., Lutsenko, S., Zeitlin, S., Das, K., Das, S., et al. (1999). Null mutation of the murine ATP7B (wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum. Mol. Genet. 8, 1665-1671.
10. Butterworth, R. (2010). Metal toxicity, liver disease and neurodegeneration. Neurotox. Res. 18, 100-105.
11. Cao, Y., Staropoli, J., Biswas, S., Espinola, J., MacDonald, M., Lee, J., et al. (2011). Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. PLoS ONE 6:e17118. doi: 10.1371/journal.pone.0017118
12. Chan, K., Lam, C., Lee, L., Tong, S., and Yuen, Y. (2008). Pantothenate kinase-associated neurodegeneration in two chinese children: identification of a novel PANK2 gene mutation. Hong Kong Med. J. 14, 70-73.
13. Christodoulou, J., Danks, D., Sarkar, B., Baerlocher, K., Casey, R., Horn, N., et al. (1998). Early treatment of menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am. J. Med. Genet. 76, 154-164.
14. Cooper, J. (2003). Progress towards understanding the neurobiology of batten disease or neuronal ceroid lipofuscinosis. Curr. Opin. Neurol. 16, 121-128.
15. Cooper, J., Russell, C., and Mitchison, H. (2006). Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta 1762, 873-889.
16. Cox, D., and Moore, S. (2002). Copper transporting P-type ATPases and human disease. J. Bioenerg. Biomembr. 34, 333-338.
17. Danks, D. (1986). Of mice and men, metals and mutations. J. Med. Genet. 23, 99-106.
18. Danks, D. (1988). Copper deficiency in humans. Annu. Rev. Nutr. 8, 235-257.
19. Danks, D., Cartwright, E., Stevens, B., and Townley, R. (1973). Menkes' kinky hair disease: further definition of the defect in copper transport. Science 179, 1140-1142.
20. de Bie, P., Muller, P., Wijmenga, C., and Klomp, L. (2007). Molecular pathogenesis of wilson and menkes disease: correlation of mutations with molecular defects and disease phenotypes. J. Med. Genet. 44, 673-688.
21. Deibel, M., Ehmann, W., and Markesbery, W. (1996). Copper, iron, and zinc imbalances in severely degenerated brain regions in alzheimer's disease: possible relation to oxidative stress. J. Neurol. Sci. 143, 137-142.
22. DeLong, M., Alexander, G., Georgopoulos, A., Crutcher, M., Mitchell, S., and Richardson, R. (1984). Role of basal ganglia in limb movements. Hum. Neurobiol. 2, 235-244.
23. Denny-Brown, D., and Porter, H. (1951). The effect of BAL (2, 3-dimercaptopropanol) on hepatolenticular degeneration (wilson's disease). N. Engl. J. Med. 2 45, 917-925.
24. Dexter, D., Sian, J., Jenner, P., and Marsden, C. (1993). Implications of alterations in trace element levels in brain in parkinson's disease and other neurological disorders affecting the basal ganglia. Adv. Neurol. 60, 273-281.
25. Dooling, E., Schoene, W., and Richardson, E. Jr. (1974). Hallervorden-spatz syndrome. Arch. Neurol. 30, 70-83.
26. Fatemi, N., and Sarkar, B. (2002). Structural and functional insights of wilson disease copper-transporting ATPase. J. Bioenerg. Biomembr. 34, 339-349.
27. Forni, G., Balocco, M., Cremonesi, L., Abbruzzese, G., Parodi, R., and Marchese, R. (2008). Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation. Mov. Disord. 23, 904-907.
28. Gao, H., Boustany, R., Espinola, J., Cotman, S., Srinidhi, L., Antonellis, K., et al. (2002). Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am. J. Hum. Genet. 70, 324-335.
29. Gregory, A., and Hayflick, S. (2005). Neurodegeneration with brain iron accumulation. Folia Neuropathol. 43, 286-296.
30. Hasan, N., Gupta, A., Polishchuk, E., Yu, C., Polishchuk, R., Dmitriev, O., et al. (2012). Molecular events initiating exit of a copper-transporting ATPase ATP7B from the trans-golgi network. J. Biol. Chem. 287, 36041-36050.
31. Hayflick, S., Westaway, S., Levinson, B., Zhou, B., Johnson, M., Ching, K., et al. (2003). Genetic, clinical, and radiographic delineation of hallervorden-spatz syndrome. N. Engl. J. Med. 348, 33-40.
32. Heine, C., Koch, B., Storch, S., Kohlschutter, A., Palmer, D., and Braulke, T. (2004). Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. J. Biol. Chem. 279, 22347-22352.
33. Heiskala, H., Gutteridge, J., Westermarck, T., Alanen, T., and Santavuori, P. (1988). Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses. Am. J. Med. Genet. Suppl. 5, 193-202.
34. His, G., and Cox, D. (2004). A comparison of the mutation spectra of menkes disease and wilson disease. Hum. Genet. 114, 165-172.
35. Hunt, D., and Clarke, R. (1983). Metallothionein and the development of the mottled disorder in the mouse. Biochem. Genet. 21, 1175-1194.
36. Johansson, E., Lindh, U., Westermarck, T., Heiskala, H., and Santavuori, P. (1990). Altered elemental profiles in neuronal ceroid lipofuscinosis. J. Trace Elem. Electrolytes Health Dis. 4, 139-142.
37. Johnstone, D., and Milward, E. (2010). Genome-wide microarray analysis of brain gene expression in mice on a short-term high iron diet. Neurochem. Int. 56, 856-863.
38. Jolly, R., Shimada, A., Dopfmer, I., Slack, P., Birtles, M., and Palmer, D. N. (1989). Ceroid-lipofuscinosis (batten's disease): pathogenesis and sequential neuropathological changes in the ovine model. Neuropathol. Appl. Neurobiol. 15, 371-383.
39. Jomova, K., Vondrakova, D., Lawson, M., and Valko, M. (2010). Metals, oxidative stress and neurodegenerative disorders. Mol. Cell. Biochem. 345, 91-104.
40. Kaler, S. (1994). Menkes disease. Adv. Pediatr. 41, 263-304.
41. Kaler, S. (2011). ATP7A-related copper transport diseases-emerging concepts and future trends. Nat. Rev. Neurol. 7, 5-29.
42. Kaler, S., Buist, N., Holmes, C., Goldstein, D., Miller, R., and Gahl, W. (1995). Early copper therapy in classic menkes disease patients with a novel splicing mutation. Ann. Neurol. 38, 921-928.
43. Kanninen, K. M., Grubman, A., Meyerowitz, J., Duncan, C., Tan, J.-L., Parker, S. J., et al. (2013). Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis. PLoS ONE 8:e58644. doi: 10.1371/journal.pone.0058644
44. Kay, G., Jay, N., and Palmer, D. N. (2011). The specific loss of GnRH-positive neurons from the hypothalamus of sheep with CLN6 neuronal ceroid lipofuscinosis occurs without glial activation and has only minor effects on reproduction. Neurobiol. Dis. 41, 614-623.
45. Ke, Y., and Ming Qian, Z. (2003). Iron misregulation in the brain: a primary cause of neurodegenerative disorders. Lancet Neurol. 2, 246-253.
46. Kodama, H., and Murata, Y. (1999). Molecular genetics and pathophysiology of menkes disease. Pediatr. Int. 41, 430-435.
47. Kuo, Y., Duncan, J., Westaway, S., Yang, H., Nune, G., Xu, E., et al. (2005). Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum. Mol. Genet. 4, 49-57.
48. Kuo, Y., Gitschier, J., and Packman, S. (1997). Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the menkes and wilson disease copper transporters. Hum. Mol. Genet. 6, 1043-1049.
49. Lenartowicz, M., Krzeptowski, W., Koteja, P., Chrzascik, K., and Moller, L. (2012). Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC). PLoS ONE 7:e40400. doi: 10.1371/journal.pone.0040400
50. Leoni, V., Strittmatter, L., Zorzi, G., Zibordi, F., Dusi, S., Garavaglia, B., et al. (2012). Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol. Genet. Metab. 105, 463-471.
51. Linder, M., and Hazegh-Azam, M. (1996). Copper biochemistry and molecular biology. Am. J. Clin. Nutr. 63, 797S-811S.
52. Lonka, L., Kyttala, A., Ranta, S., Jalanko, A., and Lehesjoki, A. (2000). The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Hum. Mol. Genet. 9, 1691-1697.
53. Lutsenko, S. (2008). Atp7b-/- mice as a model for studies of wilson's disease. Biochem. Soc. Trans. 36, 1233-1238.
54. Markossian, K., and Kurganov, B. (2003). Copper chaperones, intracellular copper trafficking proteins. Function, structure, and mechanism of action. Biochemistry 68, 827-837.
55. McNeill, A., and Chinnery, P. (2011). Neurodegeneration with brain iron accumulation. Handb. Clin. Neurol. 100, 161-172.
56. Merle, U., Weiss, K., Eisenbach, C., Tuma, S., Ferenci, P., and Stremmel, W. (2010). Truncating mutations in the wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of wilson disease. BMC Gastroenterol. 10:8. doi: 10.1186/1471-230X-10-8
57. Michalczyk, A., Rieger, J., Allen, K., Mercer, J., and Ackland, M. (2000). Defective localization of the wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation. Biochem. J. 352(Pt 2), 565-571.
58. Middleton, F., and Strick, P. (2000). Basal ganglia output and cognition: evidence from anatomical, behavioral, and clinical studies. Brain Cogn. 42, 183-200.
59. Mitchison, H., Lim, M., and Cooper, J. (2004). Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. Brain Pathol. 4, 86-96.
60. Mufti, A., Burstein, E., Csomos, R., Graf, P., Wilkinson, J., Dick, R., et al. (2006). XIAP is a copper binding protein deregulated in wilson's disease and other copper toxicosis disorders. Mol. Cell 21, 775-785.
61. Palmer, D., Martinus, R., Barns, G., Reeves, R., and Jolly, R. (1988). Ovine ceroid-lipofuscinosis. I: lipopigment composition is indicative of a lysosomal proteinosis. Am. J. Med. Genet. Suppl. 5, 141-158.
62. Rauch, H. (1983). Toxic milk, a new mutation affecting cooper metabolism in the mouse. J. Hered. 74, 141-144.
63. Reilly, M., Daly, L., and Hutchinson, M. (1993). An epidemiological study of wilson's disease in the republic of ireland. J. Neurol. Neurosurg. Psychiatry 56, 298-300.
64. Rider, J., and Rider, D. (1999). Thirty years of batten disease research: present status and future goals. Mol. Genet. Metab. 66, 231-233.
65. Rosencrantz, R., and Schilsky, M. (2011). Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin. Liver Dis. 31, 245-259.
66. Samuele, A., Mangiagalli, A., Armentero, M., Fancellu, R., Bazzini, E., Vairetti, M., et al. (2005). Oxidative stress and pro-apoptotic conditions in a rodent model of wilson's disease. Biochim. Biophys. Acta 1741, 325-330.
67. Schenck, J., and Zimmerman, E. (2004). High-field magnetic resonance imaging of brain iron: birth of a biomarker? NMR Biomed. 17, 433-445.
68. Sharp, J., Wheeler, R., Parker, K., Gardiner, R., Williams, R., and Mole, S. (2003). Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum. Mutat. 22, 35-42.
69. Siintola, E., Lehesjoki, A., and Mole, S. (2006). Molecular genetics of the NCLs-status and perspectives. Biochim. Biophys. Acta 1762, 857-864.
70. Skjorringe, T., Moller, L., and Moos, T. (2012). Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders. Front. Pharmacol. 3:169. doi: 10.3389/fphar.2012.00169
71. Terada, K., Aiba, N., Yang, X., Iida, M., Nakai, M., Miura, N., et al. (1999). Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B. FEBS Lett. 448, 53-56.
72. Terada, K., Nakako, T., Yang, X., Iida, M., Aiba, N., Minamiya, Y., et al. (1998). Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA. J. Biol. Chem. 273, 1815-1820.
73. Terada, K., and Sugiyama, T. (1999). The long-evans cinnamon rat: an animal model for wilson's disease. Pediatr. Int. 41, 414-418.
74. Theophilos, M., Cox, D., and Mercer, J. (1996). The toxic milk mouse is a murine model of wilson disease. Hum. Mol. Genet. 5, 1619-1624.
75. Tonnesen, T., Kleijer, W., and Horn, N. (1991). Incidence of menkes disease. Hum. Genet. 86, 408-410.
76. Tumer, Z., Horn, N., Tonnesen, T., Christodoulou, J., Clarke, J., and Sarkar, B. (1996). Early copper-histidine treatment for menkes disease. Nat. Genet. 12, 11-13.
77. Tumer, Z., and Moller, L. (2010). Menkes disease. Eur. J. Hum. Genet. 18, 511-518.
78. Tyynela, J., Cooper, J., Khan, M., Shemilts, S., and Haltia, M. (2004). Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation. Brain Pathol. 14, 349-357.
79. Uriu-Adams, J., Scherr, R., Lanoue, L., and Keen, C. (2010). Influence of copper on early development: prenatal and postnatal considerations. Biofactors 36, 136-152.
80. Wu, J., Forbes, J., Chen, H., and Cox, D. (1994). The LEC rat has a deletion in the copper transporting ATPase gene homologous to the wilson disease gene. Nat. Genet. 7, 541-545.
81. Wu, Z., Li, C., Lv, S., and Zhou, B. (2009). Pantothenate kinase-associated neurodegeneration: insights from a drosophila model. Hum. Mol. Genet. 18, 3659-3672.
82. Yasuda, H., Yoshida, K., Yasuda, Y., and Tsutsui, T. (2011). Infantile zinc deficiency: association with autism spectrum disorders. Sci. Rep. 1:129. doi: 10.1038/srep00129
83. Yoshida, M., Masuda, R., Sasaki, M., Takeichi, N., Kobayashi, H., Dempo, K., et al. (1987). New mutation causing hereditary hepatitis in the laboratory rat. J. Hered. 78, 361-365.
84. Zhang, A., and Enns, C. (2009). Iron homeostasis: recently identified proteins provide insight into novel control mechanisms. J. Biol. Chem. 284, 711-715.
85. Zorzi, G., Zibordi, F., Chiapparini, L., Bertini, E., Russo, L., Piga, A., et al. (2011). Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. Mov. Disord. 26, 1756-1759.
86. Zorzi, G., Zibordi, F., Chiapparini, L., and Nardocci, N. (2012). Therapeutic advances in neurodegeneration with brain iron accumulation. Semin. Pediatr. Neurol. 19, 82-86.