STUDY ON ABNORMAL COPPER METABOLISM IN MENKES' KINKY HAIR DISEASE AND WILSON'S DISEASE

概要

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Abnormal copper metabolism in Menkes' Kinky Hair Disease (MKHD) and Wilson's disease was studied with skin fibroblasts, lymphoblasts and other tissues as sample. (1) Lymphoblasts of MKHD patients showed abnormally higher concentration (8 times) of copper comparing with control cells. Lymphoblasts are useful as the diagnostic tool and may be used as an in vitro model for studying abnormal copper metabolism in MKHD. (2) Lymphoblasts of Wilson's disease patients showed copper concentrations in the normal range. (3) Lymphoblasts of MKHD patients showed highly limited release of copper, but those of Wilson's disease patients didn't. (4) Carrier detection of MKHD was not successful by the copper determination using erythrocytes, fibroblasts and lymphoblasts. (5) Organs of an MKHD fetus could be divided into at least three groups according to the grade of copper accumulation. Kidney, spleen and intestine had abnormally high concentration of copper. The brain was similar in copper concentration to the controls. Liver showed reduced copper storage. (6) In the kidney of a 2-year-old MKHD patient, major parts of copper bound to low molecular weight protein, which corresponded chromatographically to metallothionein. In the liver of the same patient, however, there was no increase of copper binding to low molecular weight protein.
名古屋市立大学の論文
1981-01-04