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Deficiency of the pyruvate dehydrogenase complex
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The reaction catalyzed by E1, the first enzyme in the complex (EC 1.2.4.1), which has been referred to as pyruvate decarboxylase (PDC) and contains TPP, accomplishes the oxidative decarboxylation of pyruvate to CO2 and the linkage of the remaining two-carbon unit to TPP to form a hydroxyethylthiamine pyrophosphate attached to the enzyme (TTP-E1). The E1 enzyme is a heterotetramer of two E1α and the E1β subunits.
Inflammation
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
Inhibition of ferrochelatase activity localized only in mitochondria is connected with chronic lead toxicity.161 Inhibition of this enzyme causes accumulation of iron pigments in mitochondria of the bone marrow. Lead poisoning also results in chronic mitochondrial lesion in kidney tubules, associated with the Fanconi syndrome due to intoxication.3 Cardiac myopathy brought about by cobalt ingestion results in chronic defects of heart mitochondria involving pyruvate decarboxylase activity.
Mitochondrial and peroxisomal disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
This is a disorder of carbohydrate metabolism (the breakdown of sugars, including glucose). In this condition there is an absence or a deiciency of the pyruvate dehydrogenase complex, so the breakdown of pyruvate to form acetyl CoA is impaired. The pyruvate dehydrogenase complex consists of three separate enzymes: E1 – pyruvate decarboxylaseE2 – dihydrolipoyl transacetylaseE3 – dihydrolipoyl dehydrogenase.
Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
Published in International Journal of Neuroscience, 2022
Melike Batum, Ayşın Kısabay Ak, Güldeniz Çetin, Hamide Betül Gerik Çelebi, Sırrı Çam, Hatice Mavioğlu
Episodic ataxia is a clinical condition characterized by episodes of balance and impairment that last minutes to hours. It can be inherited or occur sporadically. It can also be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases. Apart from these. Symptoms of paroxysmal dysarthria-ataxia (secondary PDA) may also be present. Attacks of paroxysmal ataxia of primary type have been associated with genetic etiologies (EA 1-7) [1]. Hereditary episodic ataxias, spinocerebellar ataxia type 6, some mitochondrial disorders (such as pyruvate decarboxylase deficiency and pyruvate dehydrogenase deficiency), aminoaciduria (such as Hartnup disease, ketoaciduria, and isovaleric acidaemia), and hyperammonaemia due to urea cycle enzyme deficiency can also lead to episodic ataxia [1].
High alcohol-producing Klebsiella pneumoniae causes fatty liver disease through 2,3-butanediol fermentation pathway in vivo
Published in Gut Microbes, 2021
Nan-Nan Li, Wei Li, Jun-Xia Feng, Bing Du, Rui Zhang, Shu-Heng Du, Shi-Yu Liu, Guan-Hua Xue, Chao Yan, Jing-Hua Cui, Han-Qing Zhao, Yan-Ling Feng, Lin Gan, Qun Zhang, Wei-Wei Zhang, Di Liu, Chen Chen, Jing Yuan
The genes encoding all of the enzymes of the Embden-Meyerhof-Parnas pathway (EMP), hexose monophosphoric acid pathway (HMP), Entner-Doudoroff (ED) pathway, and Tricarboxylic acid cycle (TCA) pathway were present in K. pneumoniae W14 and TH1. Analyses of the genome sequences revealed the determinants of hexose-metabolizing enzymes such as invertase, levansucrase, glucokinase, glucose-6-phosphate isomerase, and glucose-fructose oxidoreductase. These enzymes would enable K. pneumoniae to use sucrose, fructose, and glucose (as well as probably glycerol, mannose, raffinose, and sorbitol), then, convert acetyl-coA to acetaldehyde using MhpF and AdhE, and finally, produce alcohol through alcohol dehydrogenases (ADHs). More than 12 highly specific ADHs could catalyze the conversion of acetaldehyde to ethanol. Furthermore, most of these ORFs were also found to be actively transcribed in association with ethanol production by K. pneumoniae W14 and TH1. These results strongly suggested that the rapid production and high yield of ethanol could probably be attributed to the presence of 12 ADHs and pyruvate decarboxylase (GL003732 and GL001278, thiamine pyrophosphate protein TPP-binding domain protein [EC:4.1.1.74]), an enzyme not frequently observed in bacteria.
Manganese mitigates against hepatorenal oxidative stress, inflammation and caspase-3 activation in rats exposed to hexachlorobenzene
Published in Drug and Chemical Toxicology, 2022
Abiola S. Tijani, Olori O. David, Ebenezer O. Farombi
Manganese (Mn) is the fifth most abundant metal (Nadaska et al. 2012). It is a trace metal essential in many biological processes in animals, humans and plants. Manganese at low concentrations is important in many cellular processes but toxic at high concentrations. Exposure of humans to Mn is through diet, occupation sites and environment. For example, individuals working in industries such as mining, welding, organochemical fungicides and dry batteries manufacturing industries are occupationally exposed to Mn while people living in vicinity around industrial and high traffic areas where Mn containing exhaust from methylcyclopentadienyl manganese tricarbonyl (MMT) gasoline are discharged into the air (Cowan et al. 2009, Rugless et al. 2014) are environmentally exposed. Manganese plays critical roles in protein and energy metabolism, metabolic regulation, bone mineralization and cellular protection from reactive oxygen species (O’neal et al. 2014, Zizza et al. 2018). It is a cofactor for many metalloenzymes and as enzyme activator for their catalytic or regulatory function including superoxide dismutase and metabolic enzymes including pyruvate decarboxylase, glutamine synthetase and arginase (Sarsour et al. 2012, Burlet and Jain 2013, Yang et al. 2019). Though Mn is an important element for cellular functioning, elevated Mn exposure over a long time reportedly causes various pathophysiologic events in animals and humans (Aschner and Aschner 2005, Pfalzer and Bowman 2017). For instance, prolonged exposure to Mn has been reported to cause reproductive, renal and hepatic dysfunction as well as neurotoxicity by accumulating in the basal ganglia in humans and animals (Bakthavatsalam et al. 2014, Yang et al. 2019).