| Budget Amount *help |
¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1998: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 1997: ¥1,600,000 (Direct Cost: ¥1,600,000)
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| Research Abstract |
The Cp gene has been shown as responsible for hereditary ceruloplasmin (Cp) deficiency (HCD), which is an autosomal recessive disease characterized by neurological abnormalities. In many HCD cases, Diabetes mellitus (DM) was the first symptom of the disease, and 10 - 20 years later at age 40 - 60 the neurological abnormalities occurred. The individuals carrying the defective Cp genes in one allele only (heterozygote) have been considered as asymptomatic. But, we made hypothesis that in these individuals the pathogenic changes related to HCD occur slowly, and reach to the levels only to develop DM at late age. To prove this, we have measured serum Cp levels in all DM out-patients in our clinic (about 320 individuals) and affiliated hospitals (about 800 individuals), and found 6 such cases. Genetic analysis of Cp gene revealed that one of them had indeed the gene mutation. Analysis of clinical and laboratorical features of these patients lead us to find that they have brain MRI findings specific to HCD in mild form. These findings together strongly support our hypothesis. Furthermore, we found positive correlation between serum Cp and blood HbA1c levels, indicating that hyperglycemia is a factor for an increase of serum Cp. Serum Cp levels increase with aging, but this increase was attenuated in DM.These findings may contribute to the understanding of the relationship of serum Cp to DM, although further studies such as study using knock out mouse of Cp may be needed to clarify these.
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