1993 Fiscal Year Final Research Report Summary
Physiological and pathological roles of new mitochondrial fatty acid oxidation enzymes
| Project/Area Number |
04404028
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| Research Category |
Grant-in-Aid for General Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pathological medical chemistry
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| Research Institution | Shinsyuu University |
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Principal Investigator |
HASHIMOTO Takashi Shinsyu Univ. Sch. of Med., Dept. of Biochem. Professor, 医学部, 教授 (80009935)
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| Co-Investigator(Kenkyū-buntansha) |
FURUTA Shuichi Shinsyu Univ. Sch. of Med., Dept. of Biochem. Assistant, 医学部, 助手 (80126705)
MIYAZAWA Shoko Shinsyu Univ. Soc. of Med., Dept. of Biochem. Assistant, 医学部, 助手 (20020745)
AOYAMA Toshifumi Sinsyu Univ. Sch. of Med., Dept. of Biochem. Assistant, 医学部, 助教授 (50231105)
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| Project Period (FY) |
1992 – 1993
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| Keywords | mitochondria / fatty acid oxidation enzymes / inborn errors of mettabolism |
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| Research Abstract |
Very-long-chain acyl-CoA dehydrogenase deficiency The presence of this new disease was firstly confirmed, and since then twelve patients were diagnosed in the last two years. The data of the enzymological and northern blot analysis indicate the cause of the enzyme defeiciency is heterogeneous. Mutations of three cases were identified
Trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. The presence of two types of this disease was confirmed. One type is a deficiency of the dehydrogenase activity alone, and the other type is a general deficiency of these three activities due to a very low content of the enzyme protein
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