| Budget Amount *help |
¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1995: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 1994: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1993: ¥900,000 (Direct Cost: ¥900,000)
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| Research Abstract |
Recently we reported peculiar unique hereidtary storage disorder entitled "A new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells"(Acta Neurol Scand 1992 ; 86 : 407-420). In 1994, this disorder was classified as "MIM 231005 : Gaucher-like disease (Pseudo-Gaucher disease)" in 1lth edition of McKusick's "Mendelian Inheritance in Man" . In 1993, we performed genetic study using PCR to find a point mutation of the gene foe beta-glucocerebrosidase. However, we failed to detect point mutations such as Leu-444 to Pro, Asp-370 to Ser, Pro-415 to arg, Val-394 to Leu, Ser-364 to Thr, Cys-342 to Gly and Try-312 to Cys. In 1994, we performed enzyme analyzes in detail to exclude multiple enzyme deficiency, while the activity of 11 kind of enzymes were all normal except beta-glucocerebrosidase. However, we determined slight abnormak storage of lactosylceramide in addition to glucosylceramide in the spleen and liver of the proband. In 1995, we purified sphingolipid activator protein 2 (SAP-2) and compared with that of patients with type 2 Gaucher disease.However, there were no difference between the function and amount of SAP-2 in the proband and those of the latter. We suggest that this new syndrome may be a contiguous gene syndrome such as a new murine model due tomutant meraxin gene which contiguous to both glucocerebrosidase and thrombospondin 3.
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