Pantothenate kinase-associated neurodegeneration: Insights from a Drosophila model

Human Molecular Genetics

Volumn 18, Issue 19, 2009, Pages 3659-3672

  Wu, Zhihao ^a   Li, Chenghua ^a   Lv, Shan ^a   Zhou, Bing ^a  

^a TSINGHUA UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ISOENZYME; PANTOTHENATE KINASE; PHOSPHOTRANSFERASE;

ANIMAL; ARTICLE; DISEASE MODEL; DROSOPHILA; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MITOCHONDRION; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PATHOLOGY; PROTEIN TRANSPORT;

ANIMALS; DISEASE MODELS, ANIMAL; DROSOPHILA; FEMALE; HUMANS; ISOENZYMES; MALE; MITOCHONDRIA; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PROTEIN TRANSPORT;

EID: 70350774174     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp314     Document Type: Article

References (42)

1. Hayflick, S.J. (2003) Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr. Opin. Pediatr., 15, 572-577.
2. Gregory, A. and Hayflick, S.J. (2005) Neurodegeneration with brain iron accumulation. Folia Neuropathol., 43, 286-296.
3. Healy, D.G., Abou-Sleiman, P.M. and Wood, N.W. (2004) PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism. Lancet Neurol., 3, 652-662.
4. Dooling, E.C., Schoene, W.C. and Richardson, E.P. Jr. (1974) Hallervorden-Spatz syndrome. Arch. Neurol., 30, 70-83.
5. Hayflick, S.J., Westaway, S.K., Levinson, B., Zhou, B., Johnson, M.A., Ching, K.H. and Gitschier, J. (2003) Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N. Engl. J. Med., 348, 33-40.
6. Zhou, B., Westaway, S.K., Levinson, B., Johnson, M.A., Gitschier, J. and Hayflick, S.J. (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat. Genet., 28, 345-349.
7. Leonardi, R., Zhang, Y.M., Rock, C.O. and Jackowski, S. (2005) Coenzyme A: back in action. Prog. Lipid Res., 44, 125-153.
8. Zhang, Y.M., Rock, C.O. and Jackowski, S. (2005) Feedback regulation of murine pantothenate kinase 3 by coenzyme A and coenzyme A thioesters. J. Biol. Chem., 280, 32594-32601.
9. Ramaswamy, G., Karim, M.A., Murti, K.G. and Jackowski, S. (2004) PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression. J. Lipid Res., 45, 17-31.
10. Kotzbauer, P.T., Truax, A.C., Trojanowski, J.Q. and Lee, V.M. (2005) Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J. Neurosci., 25, 689-698.
11. Johnson, M.A., Kuo, Y.M., Westaway, S.K., Parker, S.M., Ching, K.H., Gitschier, J. and Hayflick, S.J. (2004) Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Ann. N. Y. Acad. Sci., 1012, 282-298.
12. Hortnagel, K., Prokisch, H. and Meitinger, T. (2003) An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hum. Mol. Genet., 12, 321-327.
13. Lin, M.T. and Beal, M.F. (2006) Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature, 443, 787-795.
14. Zhang, Y.M., Rock, C.O. and Jackowski, S. (2006) Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration. J. Biol. Chem., 281, 107-114.
15. Zhyvoloup, A., Nemazanyy, I., Panasyuk, G., Valovka, T., Fenton, T., Rebholz, H., Wang, M.L., Foxon, R., Lyzogubov, V., Usenko, V. et al. (2003) Subcellular localization and regulation of coenzyme A synthase. J. Biol. Chem., 278, 50316-50321.
16. Rock, C.O., Park, H.W. and Jackowski, S. (2003) Role of feedback regulation of pantothenate kinase (CoaA) in control of coenzyme A levels in Escherichia coli. J. Bacteriol., 185, 3410-3415.
17. Kuo, Y.M., Duncan, J.L., Westaway, S.K., Yang, H., Nune, G., Xu, E.Y., Hayflick, S.J. and Gitschier, J. (2005) Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum. Mol. Genet., 14, 49-57.
18. Zhang, Y.M., Chohnan, S., Virga, K.G., Stevens, R.D., Ilkayeva, O.R., Wenner, B.R., Bain, J.R., Newgard, C.B., Lee, R.E., Rock, C.O. et al. (2007) Chemical knockout of pantothenate kinase reveals the metabolic and genetic program responsible for hepatic coenzyme A homeostasis. Chem. Biol., 14, 291-302.
19. Kuo, Y.M., Hayflick, S.J. and Gitschier, J. (2007) Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration. J. Inherit. Metab. Dis., 30, 310-317.
20. Iijima, K., Liu, H.P., Chiang, A.S., Hearn, S.A., Konsolaki, M. and Zhong, Y. (2004) Dissecting the pathological effects of human Abeta40 and Abeta42 in Drosophila: a potential model for Alzheimer's disease. Proc. Natl. Acad. Sci. USA, 101, 6623-6628.
21. Bilen, J. and Bonini, N.M. (2005) Drosophila as a model for human neurodegenerative disease. Annu. Rev. Genet., 39, 153-171.
22. Yang, Y., Wu, Z., Kuo, Y.M. and Zhou, B. (2005) Dietary rescue of fumble-a Drosophila model for pantothenate-kinase-associated neurodegeneration. J. Inherit. Metab. Dis., 28, 1055-1064.
23. Bosveld, F., Rana, A., Lemstra, W., Kampinga, H.H. and Sibon, O.C. (2008) Drosophila phosphopantothenoylcysteine synthetase is required for tissue morphogenesis during oogenesis. BMC Res. Notes, 1, 75.
24. Bosveld, F., Rana, A., van der Wouden, P.E., Lemstra, W., Ritsema, M., Kampinga, H.H. and Sibon, O.C. (2008) De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system. Hum. Mol. Genet., 17, 2058-2069.
25. Afshar, K., Gonczy, P., DiNardo, S. and Wasserman, S.A. (2001) Fumble encodes a pantothenate kinase homolog required for proper mitosis and meiosis in Drosophila melanogaster. Genetics, 157, 1267-1276.
26. Claros, M.G. and Vincens, P. (1996) Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur. J. Biochem., 241, 779-786.
27. Hartig, M.B., Hortnagel, K., Garavaglia, B., Zorzi, G., Kmiec, T., Klopstock, T., Rostasy, K., Svetel, M., Kostic, V.S., Schuelke, M. et al. (2006) Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann. Neurol., 59, 248-256.
28. Thomas, M., Hayflick, S.J. and Jankovic, J. (2004) Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov. Disord., 19, 36-42.
29. Houlden, H., Lincoln, S., Farrer, M., Cleland, P.G., Hardy, J. and Orrell, R.W. (2003) Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology, 61, 1423-1426.
30. Wittmann, C.W., Wszolek, M.F., Shulman, J.M., Salvaterra, P.M., Lewis, J., Hutton, M. and Feany, M.B. (2001) Tauopathy in Drosophila: neurodegeneration without neurofibrillary tangles. Science, 293, 711-714.
31. Castrillon, D.H., Gonczy, P., Alexander, S., Rawson, R., Eberhart, C.G., Viswanathan, S., DiNardo, S. and Wasserman, S.A. (1993) Toward a molecular genetic analysis of spermatogenesis in Drosophila melanogaster: characterization of male-sterile mutants generated by single P element mutagenesis. Genetics, 135, 489-505.
32. Hong, B.S., Senisterra, G., Rabeh, W.M., Vedadi, M., Leonardi, R., Zhang, Y.M., Rock, C.O., Jackowski, S. and Park, H.W. (2007) Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder. J. Biol. Chem., 282, 27984-27993.
33. Leonardi, R., Zhang, Y.M., Lykidis, A., Rock, C.O. and Jackowski, S. (2007) Localization and regulation of mouse pantothenate kinase 2. FEBS Lett., 581, 4639-4644.
34. Haywood, A.F. and Staveley, B.E. (2004) Parkin counteracts symptoms in a Drosophila model of Parkinson's disease. BMC Neurosci., 5, 14.
35. Salvaterra, P.M. and Kitamoto, T. (2001) Drosophila cholinergic neurons and processes visualized with Gal4/UAS-GFP. Brain Res. Gene Expr. Patterns, 1, 73-82.
36. Leonardi, R., Rock, C.O., Jackowski, S. and Zhang, Y.M. (2007) Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine. Proc. Natl. Acad. Sci. USA, 104, 1494-1499.
37. Hong, B.S., Yun, M.K., Zhang, Y.M., Chohnan, S., Rock, C.O., White, S.W., Jackowski, S., Park, H.W. and Leonardi, R. (2006) Prokaryotic type II and type III pantothenate kinases: The same monomer fold creates dimers with distinct catalytic properties. Structure, 14, 1251-1261.
38. Fuller, M.T. (1998) Genetic control of cell proliferation and differentiation in Drosophila spermatogenesis. Semin. Cell Dev. Biol., 9, 433-444.
39. Gim, B.S., Park, J.M., Yoon, J.H., Kang, C. and Kim, Y.J. (2001) Drosophila Med6 is required for elevated expression of a large but distinct set of developmentally regulated genes. Mol. Cell. Biol., 21, 5242-5255.
40. Yang, Y., Nishimura, I., Imai, Y., Takahashi, R. and Lu, B. (2003) Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila. Neuron, 37, 911-924.
41. Rock, C.O., Karim, M.A., Zhang, Y.M. and Jackowski, S. (2002) The murine pantothenate kinase (Pank1) gene encodes two differentially regulated pantothenate kinase isozymes. Gene, 291, 35-43.
42. Rock, C.O., Calder, R.B., Karim, M.A. and Jackowski, S. (2000) Pantothenate kinase regulation of the intracellular concentration of coenzyme A. J. Biol. Chem., 275, 1377-1383.