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报告在支链氨基酸分解代谢受限环境中BCKDK干扰的数据集。

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.

作者信息

Bravo-Alonso I, Oyarzabal A, Sánchez-Aragó M, Rejas M T, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P

机构信息

Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CSIC-UAM), U-746 Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER-ISCIII, IDIPAZ, Universidad Autónoma de Madrid, Spain.

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, (CSIC-UAM), U-713 Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER-ISCIII, Instituto de Investigación Hospital 12 de Octubre, Universidad Autónoma de Madrid, Spain.

出版信息

Data Brief. 2016 Mar 15;7:755-9. doi: 10.1016/j.dib.2016.03.038. eCollection 2016 Jun.

DOI:10.1016/j.dib.2016.03.038
PMID:27054191
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4804226/
Abstract

This data article contains complementary figures to the research article "Mitochondrial response to the BCKDK-deficiency: some clues to understand the positive dietary response in this form of autism" [1]. Herein we present data relative to the effect of knocking down BCKDK gene on the real time oxygen consumption rate of fibroblasts obtained from a Maple Syrup Urine Disease (MSUD) patient. Interference of BCKDK expression on such cells showing a reduced branched-chain α-ketoacid dehydrogenase (BCKDHc) activity; let us generate a scenario to study the direct effect of BCKDK absence in an environment of high branched-chain amino acids (BCAAs) concentrations. Data relative to the effectiveness of the knockdown together with the potentiality of the BCKDK-knockdown to increase the deficient branched-chain α-ketoacid dehydrogenase activity detected in MSUD patients are also shown.

摘要

本数据文章包含与研究文章《线粒体对BCKDK缺陷的反应：理解这种自闭症形式中积极饮食反应的一些线索》[1]互补的图表。在此，我们展示了敲低BCKDK基因对从枫糖尿症（MSUD）患者获得的成纤维细胞实时耗氧率影响的数据。BCKDK表达对这类显示支链α-酮酸脱氢酶（BCKDHc）活性降低的细胞的干扰；使我们能够构建一个场景，以研究在高支链氨基酸（BCAAs）浓度环境中BCKDK缺失的直接影响。还展示了与敲低有效性相关的数据，以及BCKDK敲低增加MSUD患者中检测到的缺陷支链α-酮酸脱氢酶活性的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c90/4804226/e98728f214c9/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c90/4804226/e40d19bc473b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c90/4804226/e98728f214c9/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c90/4804226/e40d19bc473b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c90/4804226/e98728f214c9/gr2.jpg

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本文引用的文献

1
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.线粒体对BCKDK缺乏的反应：理解这种自闭症形式中积极饮食反应的一些线索。
Biochim Biophys Acta. 2016 Apr;1862(4):592-600. doi: 10.1016/j.bbadis.2016.01.016. Epub 2016 Jan 22.
2
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.BCKDK（支链酮酸脱氢酶激酶）基因中的两个新突变导致了两名儿科非亲缘患者的神经行为缺陷。
Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5.
3
人类先天性乳酸性酸中毒的基因与变异——从遗传学到个性化治疗
J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811.
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
一种新型的支链α-酮酸脱氢酶复合物的调节缺陷是由于 PPM1K 基因突变引起的，导致枫糖尿症的轻度变异表型。
Hum Mutat. 2013 Feb;34(2):355-62. doi: 10.1002/humu.22242. Epub 2012 Dec 12.
4
Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.线粒体生物能量学与动力学在复合物I缺陷型成纤维细胞中的相互作用。
Biochim Biophys Acta. 2010 May;1802(5):443-53. doi: 10.1016/j.bbadis.2010.02.001. Epub 2010 Feb 11.
5
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
6
Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.通过白细胞和成纤维细胞中的微酶分析法快速诊断枫糖尿症（支链酮酸尿症）
Clin Chim Acta. 1973 May 30;45(4):433-40. doi: 10.1016/0009-8981(73)90046-6.