Further Analysis of Mutant Thiolase Protein in Fibroblasts from a Japanese Boy with 3-Ketothiolase Deficiency.

DOI Web Site PubMed 被引用文献1件 オープンアクセス

書誌事項

公開日
1992
資源種別
journal article
DOI
  • 10.1620/tjem.167.143
公開者
東北ジャーナル刊行会

この論文をさがす

説明

YAMAGUCHI, S., FUKAO, T., KANO, M., WAKAZONO, A., ORII, T., SAKURA, N. and HASHIMOTO, T. Further Analysis of Mutant Thiolase Protein in Fibroblasts from a Japanese Boy with 3-Ketothiolase Deficiency. Tohoku J. Exp. Med., 1992, 167 (2), 143-153 -We examined the mutant protein of mitochondrial acetoacetyl-CoA thiolase (mutant T2) in fibroblasts from a Japanese boy with 3-ketothiolase deficiency. The molecular size of the mutant T2 protein, determined by pulse labeling and SDS/PAGE, was intermediate between the mature subunit and the precursor of T2. To characterize the mutant T2 protein, pulse-labeling and rhodamine 6G inhibition of mitochondrial transport in fibroblasts, cell-free translation experiments, and family studies by thiolase assay, immunoblotting, and pulse-labeling were carried out. The mutant T2 was detectable as early as a 10-min pulse. The probable precursor of the mutant T2 was not detectable in either the rhodamine 6G inhibition or cell-free translation experiments. In the parents, the K+ ion dependency of acetoacetyl-CoA thiolase activity was low and the T2 bands in immunoblots were faint. It would thus appear that the parents are heterozygotes of this disease. In pulse-labeling, only a band for the mutant T2 was detected in the patient and a single band for the normal mature subunit of T2 in the father; both bands were detected in the mother. These findings suggested that the mutant T2 in the patient was inherited from the mother, and that the expression of another mutant allele of the father may be either abolished or scanty.

収録刊行物

被引用文献 (1)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ