1995 Fiscal Year Final Research Report Summary
A new syndrome associated with beta-glucocerebrosidase feficiency : morphological, biochemical, and mollecular genetic studies
| Project/Area Number |
05670563
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | Kumamoto University |
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Principal Investigator |
UYAMA Eiichiro Kumamoto University Hospital Assis. Prof., 医学部・附属病院, 助手 (90185075)
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| Co-Investigator(Kenkyū-buntansha) |
MURAKAMI Tatsuhumi Kumamoto Unibersity Hospital fellow, 医学部・附属病院, 医員
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| Project Period (FY) |
1993 – 1995
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| Keywords | Gaucher-like disease / beta-glucocerebrosidase / hereditary valvular heart disease / hereditary deafness / a new syndrome / hereditary hydrocephalus / hereditary corneal opacities / hereditary leptomeningeal fibrosis |
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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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