Recent studies on
Menkes disease are reviewed, focusing especially on
copper transport in the cells. A large amount of
copper accumulated in the organelle-free cytoplasm, whereas mitochondria were in a state of
copper deficiency, indicating that Menkes mutation probably affects
copper transport from the cytosol to the organelles in the cells. Microscopic observation of the brain of the macular mouse showed that
copper accumulates in the blood vessels. Observation of the brain tissue of the macular mouse after intraventricular administration of
copper revealed that
copper accumulates in the glia as well as the blood vessels.
Copper accumulation was also observed in cultured astrocytes, a type of glial cell, indicating that the affected astrocytes accumulate blood-borne
copper and release little of it in the patients with
Menkes disease. Thus the effective treatment of
Menkes disease could possibly be to release trapped
copper from the blood vessels and glia into the neurons.