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Development of a system for early diagnosis and molecular analysis of mitochondrial and peroxisomal fatty acid beta-oxidation defects in Japan.

在日本开发了线粒体和过氧化物酶体脂肪酸β-氧化缺陷的早期诊断和分子分析系统。

基本信息

批准号：
08307008
负责人：
YAMAGUCHI Seiji
金额：
$ 2.3万
依托单位：
Shimane Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (A)
财政年份：
1996
资助国家：
日本
起止时间：
1996 至 1997
项目状态：
已结题

项目摘要

We have studied on the development of a system for early diagnosis and molecular analysis of mitochondrial and peroxisomal fatty acid beta-oxidation defects (FAOD) in Japan. The results were as follows :1) In GC/MS analysis of urinary organic acids, acylglycine analysis for the detection of mitochondrial FAOD was established, using stable isotope dilution analysis. Furthermore, it was disclosed that the detection of dicarboxylepoxicides of long-chain carbon length was useful for diagnosis of peroxisomal FAOD.2) The screening method using blood filter paper was established for the peroxisomal FAOD.3) Acylcarnitnie analysis by tanden MS for the diagnosis of mitochondrial FAOD was established.4) Patients with mitochondrial and peroxisomal FAODs diagnosed in Japan were survelyed and investigated. There were 40 and 17 patients with definite mitochondrial and peroxisomal FAODs, respectively.5) Enzymatic and immunochemical detection for 11 mitochondrial and 10 peroxisomal FAODs was established.6) Several Japanese patients with novel mitochondrial FAODs, such as very-long chain acyl-CoA dehydrogenase deficiency or trifunctional protein deficiency, were investigated at the molecular levels.7) A novel peroxisomal enzyme, D-bifunctional protein, was discovered, purified and cloned. Furthermore, a patient with a deficiency of the enzyme was identified, and investigated at the enzymatic and molecular levels.8) Based on the results of this project, we are intending to develop a system of early diagnosis and molecular analysis for the disorders in this field in Japan. It includes mass spectrometric, enzymatic, immunochemical, and genetic approaches.

我们研究了日本开发的线粒体和过氧化体脂肪酸β-氧化缺陷(FAOD)早期诊断和分子分析系统。结果如下：1)在尿液有机酸的GC/MS分析中，采用稳定同位素稀释法，建立了检测线粒体Fod的甘氨酸酰基分析方法。2)建立了过氧体FAOD的血液滤纸筛查方法。3)建立了Tanden MS酰化肉碱分析诊断线粒体FAOD的方法。4)对日本确诊的线粒体和过氧体FAOD患者进行了调查和调查。5)建立了11个线粒体和10个过氧化体FAOD的酶学和免疫化学检测方法。6)从分子水平上研究了几个新的线粒体FAOD，如超长链酰辅酶A脱氢酶缺乏症或三功能蛋白缺乏症。7)发现、纯化和克隆了一种新的过氧物酶--D-生物功能蛋白。8)基于本项目的研究结果，我们打算开发一套日本这一领域的疾病的早期诊断和分子分析系统。它包括质谱学、酶学、免疫化学和遗传学方法。