Genetic expression of Menkes disease in cultured astrocytes of the macular mouse

Kodama, Hiroko; Meguro, Yuko; Abe, Toshiaki; Rayner, Michael; Suzuki, Kazuo; Kobayashi, S.; Nishimura, Masahiko

doi:10.1007/bf01800470

Cited by 55 publications

(37 citation statements)

References 23 publications

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“…In the macular mutant mouse, an animal model of copper deficiency, copper accumulated in astrocytes of the blood-brain barrier and could not be transported into the brain [12]. Since we have no direct evidence of abnormal copper metabolism in the patients' brain, further studies are necessary.…”

Section: Discussionmentioning

confidence: 98%

Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia

et al. 1993

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We describe two siblings, a boy and his younger sister, with degenerative neurological disturbances, hypocupraemia and hypobetalipoproteinaemia. The neurological features in both cases were developmental delay, dysarthria, hyperkinetics with an attention deficit, dysdiadochokinesis, night blindness, myoclonic jerks and convulsions. Their serum cooper levels did not increase despite administration of copper sulphate both orally or intravenously. The copper contents of the cultured fibroblasts in the patients were 1.5-fold that of controls. Although neurological disorders associated with abnormal copper metabolism and inherited in an X-linked manner have been previously reported, this is the first report of a neurodegenerative disease concurrent with abnormal copper metabolism and hypobetalipoproteinaemia.

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Section: Discussionmentioning

confidence: 98%

Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia

et al. 1993

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“…This copper-dependent reversible translocation of ATP7A between two compartments has also been reported for cultured astrocytes [30]. In addition, astrocytes in the brindled mouse model of Menkes disease, a disease caused by mutated ATP7A which impairs the translocation of ATP7A to the plasma membrane, strongly accumulate copper [20,21,111,112]. Recently the heat shock 70 kDa protein 5 (Hspa5) has been suggested to be involved in the copper-dependent trafficking of ATP7A in astrocytes [31].…”

Section: Export Of Copper From Astrocytesmentioning

confidence: 94%

“…Histochemical analysis of the brain revealed high copper contents in astrocytes [20][21][22]. Also the elevated brain copper levels in the North Ronaldsay sheep, an animal model for copper toxicosis, have been connected with an increased astrocytic copper accumulation and with a strong astrocytic immunoreactivity for the metal storing metallothioneins (MTs) [23].…”

Section: Introductionmentioning

confidence: 98%

Handling of Copper and Copper Oxide Nanoparticles by Astrocytes

Bulcke

Dringen

2015

Neurochem Res

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Copper is an essential trace element for many important cellular functions. However, excess of copper can impair cellular functions by copper-induced oxidative stress. In brain, astrocytes are considered to play a prominent role in the copper homeostasis. In this short review we summarise the current knowledge on the molecular mechanisms which are involved in the handling of copper by astrocytes. Cultured astrocytes efficiently take up copper ions predominantly by the copper transporter Ctr1 and the divalent metal transporter DMT1. In addition, copper oxide nanoparticles are rapidly accumulated by astrocytes via endocytosis. Cultured astrocytes tolerate moderate increases in intracellular copper contents very well. However, if a given threshold of cellular copper content is exceeded after exposure to copper, accelerated production of reactive oxygen species and compromised cell viability are observed. Upon exposure to sub-toxic concentrations of copper ions or copper oxide nanoparticles, astrocytes increase their copper storage capacity by upregulating the cellular contents of glutathione and metallothioneins. In addition, cultured astrocytes have the capacity to export copper ions which is likely to involve the copper ATPase 7A. The ability of astrocytes to efficiently accumulate, store and export copper ions suggests that astrocytes have a key role in the distribution of copper in brain. Impairment of this astrocytic function may be involved in diseases which are connected with disturbances in brain copper metabolism.

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“…Therefore, ATP7A plays a pivotal role in the passage of copper across the blood-brain barrier, especially in the developing brain. In addition, copper delivery from glia to neurons is also mediated by ATP7A (23). Unusual copper deposits in these cells were counted in the gross copper levels of the brain in our study, but these deposits may not actually be used by neurons.…”

Section: Munakata Et Almentioning

confidence: 97%

Copper-trafficking efficacy of copper-pyruvaldehyde bis(N4-methylthiosemicarbazone) on the macular mouse, an animal model of Menkes disease

et al. 2012

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Genetic expression of Menkes disease in cultured astrocytes of the macular mouse

Cited by 55 publications

References 23 publications

Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia

Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia

Handling of Copper and Copper Oxide Nanoparticles by Astrocytes

Copper-trafficking efficacy of copper-pyruvaldehyde bis(N4-methylthiosemicarbazone) on the macular mouse, an animal model of Menkes disease

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