Summary
The copper concentration was investigated in the cultured astrocytes from macular mice, an animal model of Menkes disease. An excessive amount of copper was accumulated in the astrocytes as copper-metallothionein. These results show that the underlying genetic defect of the macular mouse is expressed in the astrocytes. A similar situation may exist in Menkes disease and cause a failure of copper transport to neurones.
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Camakaris, J., Mann, J. R. and Danks, D. M. Copper metabolism in mottled mouse mutants. Copper concentrations in tissues during development.Biochem. J. 180 (1979) 597–604
Danks, D. M. Disorders of copper transport. In Scriver, C. R., Beaudet, A. I., Sly, W. S. and Valle, D. (eds.)The Metabolic Basis of Inherited Disease, 6th edn., McGraw-Hill, New York, 1989, pp. 1411–1431
Furukawa, S., Furukawa, Y., Satoyoshi, E. and Hayashi, K. Synthesis and secretion of nerve growth factor by mouse astroglial cells in culture.Biochem. Biophys. Res. Commun. 136 (1986) 57–63
Garnica, A. D., Frias, J. L. and Rennert, O. M. Menkes kinky hair syndrome: Is it a treatable disorder?Clin. Genet. 11 (1977) 154–161
Grover, W. D. and Scrutton, M. C. Copper infusion therapy in trichopoliodystrophy.J. Pediatr. 86 (1975) 216–220
Grover, W. D., Johnson, W. C. and Henken, R. I. Clinical and biochemical aspects of trichopoliodystrophy.Ann. Neurol. 5 (1979) 65–71
Hartter, D. E. and Barner, A. Evidence for release of copper in the brain: Depolarization-induced release of newly taken-up67copper.Synapse 2 (1988) 412–415.
Heydorn, K., Damsgaard, E., Horn, N., Mikkelsen, M., Tygstrup, I., Vestermark, S. and Weber, J. Extra-hepatic storage of copper. A male foetus suspected of Menkes' disease.Humangenetik 29 (1975) 171–175
Horn, N., Mikkelsen, M., Heydorn, K., Damsgaard, E. and Tygstrup, I. Copper and steely hair.Lancet 1 (1975) 1236
Kobayashi, H., Wada, M. and Uemura, H. Uptake of peroxidase from the third ventricle by ependymal cells of the median eminence.Z. Zellforsch. 127 (1972) 545–551
Kodama, H., Okabe, I., Yanagisawa, M. and Kodama, Y. Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome.J. Inher. Metab. Dis. 12 (1989) 386–389
Mann, J. R., Chamakaris, J. and Danks, D. M. Copper metabolism in mottled mouse mutants. Distribution of64Cu in brindled (Mobr)mice.Biochem. J. 180 (1979a) 613–619
Mann, J. R., Chamakaris, J., Danks, D. M. and Walliczek, E. G. Copper metabolism in mottled mouse mutants: Copper therapy of brindled (Mobr)mice.Biochem. J. 180 (1979b) 605–612
Millhouse, O. E. Light and electron microscopic studies of the ventricular wall.Z. Zellforsch. 127 (1972) 149–174
Nooijen, J. L., Groot, C. J., Van den Hamer, C. J. A., Monnens, L. A. H., Willemse, J. and Niermeijer, M. F. Trace element studies in three patients and a fetus with Menkes' disease. Effect of copper therapy.Pediatr. Res. 15 (1981) 284–289
Onaga, A., Kawasaki, H., Yamano, T., Shimada, M. and Nishimura, M. Light and electron microscopic study on cerebellar cortex of macular mutant mouse as a model of Menkes kinky hair disease.Brain Dev. 9 (1987) 265–269
Onishi, T., Suzue, J., Nishikawa, K., Muramatsu, M. and Miyao, M. Nature of copper and zinc compounds in tissues from a patient with Menkes kinky hair syndrome.Eur. J. Pediatr. 137 (1981) 17–21
Riordan, J. R. and Jolicoeur-Paquet, L. Metallothionein accumulation may account for intracellular copper retention in Menkes' disease.J. Biol. Chem. 257 (1982) 4639–4645
Sasahara, A., Yamasaki, S., Tachiiri, T., Kawasaki, H., Yamano, T., Ohya, N. and Shimada, M. Biochemical study on the brain of the macular mutant mouse as a model of Menkes kinky hair disease.Brain Dev. 10 (1988) 54–56
Senjo, M., Ishibashi, T., Terashima, T. and Inoue, Y. Correlation between astrogliogenesis and blood-brain barrier formation: Immunocytochemical demonstration by using astroglia-specific enzyme glutathione S-transferase.Neurosci. Lett. 66 (1986) 39–42
Suzuki, K. T. and Maitani, T. Metal-dependent properties of metallothionein.Biochem. J. 199 (1981) 289–295
Suzuki, K. T., Sunaga, H., Kobayashi, E. and Sugihira, N. High-performance liquid chromatography-inductively coupled plasma profiles of cadmium, zinc, sulphur and other elements in rat liver supernatants after cadmium injection.J. Chromatogr. 400 (1987) 233–240
Szerdahelyi, P. and Kása, P. Histochemical demonstration of copper in normal rat brain and spinal cord. Evidence of localization in glial cells.Histochemistry 85 (1986) 341–347
Yamano, T., Shimada, M., Onaga, A., Kawasaki, H., Iwane, S., Ono, K. and Nishimura, M. Electron microscopic study on brain of macular mutant mouse after copper therapy.Acta Neuropathol. 76 (1988) 574–580
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Kodama, H., Meguro, Y., Abe, T. et al. Genetic expression of Menkes disease in cultured astrocytes of the macular mouse. J Inherit Metab Dis 14, 896–901 (1991). https://doi.org/10.1007/BF01800470
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DOI: https://doi.org/10.1007/BF01800470