A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency

2016 ◽  
Vol 91 (4) ◽  
pp. 629-633 ◽  
Author(s):  
F. Al Mutairi ◽  
H.E. Shamseldin ◽  
M. Alfadhel ◽  
R.J. Rodenburg ◽  
F.S. Alkuraya
Keyword(s):  
Short Chain ◽  
Enoyl Coa Hydratase

scholarly journals Thioesterase induction by 2,3,7,8-tetrachlorodibenzo-p-dioxin results in a futile cycle that inhibits hepatic β-oxidation

2021 ◽  
Author(s):  
Giovan N. Cholico ◽  
Russ R. Fling ◽  
Nicholas A. Zacharewski ◽  
Kelly A. Fader ◽  
Rance Nault ◽  
...  
Keyword(s):  
Gene Expression ◽  
Fatty Acid ◽  
Short Chain ◽  
Fatty Acid Binding Proteins ◽  
Acid Oxidation ◽  
Acid Activation ◽  
Futile Cycle ◽  
Fatty Acid Binding ◽  
Fatty Acid Activation ◽  
Enoyl Coa Hydratase

ABSTRACT2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD), a persistent environmental contaminant, induces steatosis by increasing hepatic uptake of dietary and mobilized peripheral fats, inhibiting lipoprotein export, and repressing β-oxidation. In this study, the mechanism of β-oxidation inhibition was investigated by testing the hypothesis that TCDD dose-dependently repressed straight-chain fatty acid oxidation gene expression in mice following oral gavage every 4 days for 28 days. Untargeted metabolomic analysis revealed a dose-dependent decrease in hepatic acyl-CoA levels, while octenoyl-CoA and dicarboxylic acid levels increased. TCDD also dose-dependently repressed the hepatic gene expression associated with triacylglycerol and cholesterol ester hydrolysis, fatty acid binding proteins, fatty acid activation, and 3-ketoacyl-CoA thiolysis while inducing acyl-CoA hydrolysis. Moreover, octenoyl-CoA blocked the hydration of crotonyl-CoA suggesting short chain enoyl-CoA hydratase (ECHS1) activity was inhibited. Collectively, the integration of metabolomics and RNA-seq data suggested TCDD induced a futile cycle of fatty acid activation and acyl-CoA hydrolysis resulting in incomplete β-oxidation, and the accumulation octenoyl-CoA levels that inhibited the activity of short chain enoyl-CoA hydratase (ECHS1).

scholarly journals Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

2018 ◽  
pp. 103-109 ◽  
Author(s):  
Colleen M. Carlston ◽  
Sacha Ferdinandusse ◽  
Judith A. Hobert ◽  
Rong Mao ◽  
Nicola Longo
Keyword(s):  
Short Chain ◽  
Enoyl Coa Hydratase

scholarly journals Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report

2020 ◽  
Vol 25 ◽  
pp. 100672
Author(s):  
Madoka Uesugi ◽  
Jun Mori ◽  
Shota Fukuhara ◽  
Noriko Fujii ◽  
Tadaki Omae ◽  
...  
Keyword(s):  
Case Report ◽  
Short Chain ◽  
Plasma Lactate ◽  
Normal Plasma ◽  
Lactate Levels ◽  
Enoyl Coa Hydratase

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency

2020 ◽  
Vol 28 ◽  
pp. 151-158
Author(s):  
Silvia Masnada ◽  
Cecilia Parazzini ◽  
Paolo Bini ◽  
Mario Barbarini ◽  
Luisella Alberti ◽  
...  
Keyword(s):  
Short Chain ◽  
Phenotypic Spectrum ◽  
Enoyl Coa Hydratase

Molecular Cloning and Sequence Analysis of the cDNA for Human Mitochondrial Short-Chain Enoyl-CoA Hydratase

1993 ◽  
Vol 47 (1) ◽  
pp. 9-13 ◽  
Author(s):  
Masaki Kanazawa ◽  
Akira Ohtake ◽  
Hiroki Abe ◽  
Shigenori Yamamoto ◽  
Yoshirtori Satoh ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Molecular Cloning ◽  
Short Chain ◽  
Enoyl Coa Hydratase
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