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由于枫糖尿症患者来源的淋巴母细胞中支链α-酮酸脱羧酶（E1）组分的β亚基发生突变，导致支链α-酮酸脱氢酶复合体的动力学特性改变。

Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

作者信息

Indo Y, Kitano A, Endo F, Akaboshi I, Matsuda I

出版信息

J Clin Invest. 1987 Jul;80(1):63-70. doi: 10.1172/JCI113064.

DOI:10.1172/JCI113064
PMID:3597778
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC442202/
Abstract

Branched-chain alpha-keto acid dehydrogenase (BCKDH) complexes of lymphoblastoid cell lines derived from patients with classical maple syrup urine disease (MSUD) phenotypes were studied in terms of their catalytic functions and analyzed by immunoblotting, using affinity purified anti-bovine BCKDH antibody. Kinetic studies on three cell lines derived from patients with the classical phenotype showed sigmoidal or near sigmoidal kinetics for overall BCKDH activity and a deficiency of the E1 component activity. An immunoblot study revealed a markedly decreased amount of the E1 beta subunit accompanied by weak staining of the E1 alpha subunit. The E2 and E3 component exhibited a cross-reactive peptide. Thus, in at least some patients with MSUD, mutations of the E1 beta subunit might provide an explanation for the altered kinetic properties of the BCKDH complex.

摘要

对源自患有典型枫糖尿症（MSUD）表型患者的淋巴母细胞系的支链α-酮酸脱氢酶（BCKDH）复合物进行了催化功能研究，并使用亲和纯化的抗牛BCKDH抗体通过免疫印迹法进行分析。对源自典型表型患者的三个细胞系的动力学研究表明，总体BCKDH活性呈S形或近似S形动力学，且E1成分活性不足。免疫印迹研究显示E1β亚基的量明显减少，同时E1α亚基染色较弱。E2和E3成分表现出交叉反应性肽。因此，在至少一些MSUD患者中，E1β亚基的突变可能解释了BCKDH复合物动力学特性的改变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/b0a37c90c24d/jcinvest00091-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/0d4edd69bda7/jcinvest00091-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/35dc3f0039c3/jcinvest00091-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/045ecd67a25e/jcinvest00091-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/b0a37c90c24d/jcinvest00091-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/0d4edd69bda7/jcinvest00091-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/35dc3f0039c3/jcinvest00091-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/045ecd67a25e/jcinvest00091-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c769/442202/b0a37c90c24d/jcinvest00091-0079-a.jpg

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1
Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.由于枫糖尿症患者来源的淋巴母细胞中支链α-酮酸脱羧酶（E1）组分的β亚基发生突变，导致支链α-酮酸脱氢酶复合体的动力学特性改变。
J Clin Invest. 1987 Jul;80(1):63-70. doi: 10.1172/JCI113064.
2
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4
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