• Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of long-chain acyl CoA dehydrogenase deficiency (LCHAD) deficiency. (medscape.com)
  • 5. Bonnefont JP, Bastin J, Behin A, Djouadi F. Bezafibrate for an inborn mitochondrial beta-oxidation defect. (ac.ir)
  • b Identification of putative peroxisomal enzymes and enyzmes of mitochondrial beta-oxidation. (biomedcentral.com)
  • The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. (nih.gov)
  • Cell Rep. … Once in the matrix, carnitine palmitoyltransferase II (CPT-II) hydrolyses the acyl-carnitine to free carnitine and LC-CoA, for beta-oxidation. (siderac.com)
  • Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. (wikigenes.org)
  • Finally, the 625G→A single nucleotide polymorphism in the gene encoding the short chain acyl-coenzyme A dehydrogenase (SCAD) was previously proposed as a co-factor in the aetiology of EE and other EMA syndromes. (bmj.com)
  • Long-chain acyl coenzyme A dehydrogenase (ACADL) is the first step in catalytic fatty acid oxidation and plays an important role in long-chain fatty acid oxidation including expression regulation and activity regulation. (animbiosci.org)
  • Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. (medscape.com)
  • Constant or progressive proximal and axial muscle weakness associated with or without metabolic crisis, is often seen in patients with LSM such as primary carnitin deficiency (PCD) or multiple acyl-coenzyme a dehydrogenase deficiency disorder (MADD). (ac.ir)
  • Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. (ac.ir)
  • However, the activated long-chain fatty acids, such as palmitoyl-CoA, cannot diffuse through the mitochondrial inner membrane. (biomedcentral.com)
  • The ACAD9 enzyme is critical in helping assemble a group of proteins known as complex I. Complex I is one of several complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy. (medlineplus.gov)
  • Most ACAD9 gene mutations change single protein building blocks (amino acids) in the ACAD9 enzyme. (medlineplus.gov)
  • This enzyme complex metabolizes long-chain fatty acids, and the long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity is specific for compounds of C12-C16 chain length. (medscape.com)
  • Here, we show that deficiency of NOX4 resulted in reduced expression of carnitine palmitoyltransferase 1A (CPT1A), which is a key mitochondrial enzyme in the fatty acid oxidation (FAO) pathway. (docksci.com)
  • Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. (medscape.com)
  • The electron carriers are found within four membrane-bound enzyme-complexes, which are imbedded in the inner mitochondrial membrane. (drugstorepdfsearch.com)
  • The enzymes of the electron transport chain are organized in the inner mitochondrial membrane in the form of four enzyme complexes. (drugstorepdfsearch.com)
  • Second, the mitochondrial outer membrane enzyme glycerol-3-phosphate acyltransferase esterifies an acyl-group to the sn-1 position of sn-glycerol 3-phosphate to form 1-acyl-sn-glycerol 3-phosphate (lysophosphatidic acid or LPA). (smpdb.ca)
  • The enzyme 1-acyl-sn-glycerol-3-phosphate acyltransferase converts LPA into phosphatidic acid (1,2-diacyl-sn-glycerol 3-phosphate) by esterifying an acyl-group to the sn-2 position of the glycerol backbone. (smpdb.ca)
  • Last, the enzyme diacylglycerol O-acyltransferase synthesizes triacylglycerol from diacylglycerol and a fatty acyl-CoA. (smpdb.ca)
  • Carnitine palmitoyltransferase 1 (CPT1) is the enzyme in the outer mitochondrial membrane that converts long-chain acyl-CoA species to their corresponding long-chain acyl-carnitines for transport into the mitochondria (see Fig. Long‐Term Follow‐Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency. (siderac.com)
  • CPT-2 deficiency occurs when an enzyme, called carnitine palmitoyl transferase - type 2 (CPT-2… Carnitine palmitoyltransferase 2 (CPT-2 or CPT-II) is one of a family of carnitine acyltransferases in humans that catalyze the reversible transfer of acyl groups between coenzyme A (CoASH) and L-carnitine, converting fatty acyl-CoA esters into fatty acyl-carnitine esters. (siderac.com)
  • To assess the effects of acylcarnitine accumulation on muscle insulin sensitivity, a model of muscle acylcarnitine accumulation was generated by deleting carnitine palmitoyltransferase 2 (CPT2) specifically from skeletal muscle (Cpt2 Sk−/− mice).CPT2 is an irreplaceable enzyme for mitochondrial long-chain fatty acid oxidation, converting matrix acylcarnitines to acyl-CoAs. (siderac.com)
  • A mitochondrial flavoprotein, this enzyme catalyzes the oxidation of 3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA using FAD as a cofactor. (bvsalud.org)
  • Affected infants with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency, which is inherited as an autosomal recessive trait, present in infancy with acute hypoketotic hypoglycemia. (medscape.com)
  • Some patients who are deficient in all 3 enzymatic activities of the protein have been described, although most have an isolated long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency, which results in the inability to metabolize long-chain fatty acids. (medscape.com)
  • Patients with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency may develop a profound CNS deficiency of docosahexanoic acid ethyl ester (DHA), 22:6n-3. (medscape.com)
  • The etiology of the severe peripheral neuropathy of trifunctional protein deficiency may result from the unique metabolite, 3-keto-acyl-CoA, after conversion to a methylketone via spontaneous decarboxylation. (medscape.com)
  • Occurrence frequency of either isolated long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity deficiency or trifunctional protein deficiency is unknown in the United States. (medscape.com)
  • Patients with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity deficiency usually present with hypoketotic hypoglycemia, cardiomyopathy, hypotonia, and hepatomegaly at a median age of 6 months. (medscape.com)
  • Another study confirmed that disturbance of mitochondrial functions caused by oxidative stress from the accumulating fatty acids is involved in the pathophysiology of LCHAD deficiency. (medscape.com)
  • The incidence of isolated LCHAD activity deficiency and trifunctional protein deficiency is unknown in the United States. (medscape.com)
  • On the other hand, rhabdomyolysis triggered by fasting, fever, or physical activity usually occurs in patients with disorders affecting intramitochondrial fatty acid transport and β-oxidation, such as carnitine palmitoyltransferase II deficiency (CPT2), mitochondrial trifunctional protein deficiency and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). (ac.ir)
  • Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. (ac.ir)
  • Sometimes it's deficiency or absence can also cause mitochondrial dysfunction [ 6 , 7 ]. (animbiosci.org)
  • Medium-chain acyl-CoA dehydrogenase deficiency in children with non- ketotic hypoglycemia and low carnitine levels. (medscape.com)
  • Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (medscape.com)
  • Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain. (medscape.com)
  • Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. (medscape.com)
  • Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. (medscape.com)
  • Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. (medscape.com)
  • Medium-chain acyl-coA dehydrogenase deficiency: evaluation of genotype-phenotype correlation in patients detected by newborn screening. (medscape.com)
  • Abnormal screening in a healthy infant of a mother with undiagnosed medium-chain acyl-coA dehydrogenase deficiency. (medscape.com)
  • Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. (medscape.com)
  • Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. (medscape.com)
  • Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. (nih.gov)
  • Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. (nih.gov)
  • 2003). Genetic Heterogeneity of Mitochondrial Trifunctional Protein Deficiency See also MTPD2 (620300), caused by mutation in the HADHB gene, the beta subunit of the mitochondrial trifunctional protein. (nih.gov)
  • Multiple acyl-CoA dehydrogenase deficiency- (MADD-), also called glutaric aciduria type 2, associated leukodystrophy may be severe and progressive despite conventional treatment with protein- and fat-restricted diet, carnitine, riboflavin, and coenzyme Q10. (nature.com)
  • Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. (siderac.com)
  • Carnitine palmitoyl transferase II deficiency, myopathic form Disease definition The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term). (siderac.com)
  • In 1961, Childs et al published the earliest clinical report of a patient who was ultimately found to be affected by a deficiency of propionyl coenzyme A (CoA) carboxylase (ie, propionic acidemia). (medscape.com)
  • Acyl-CoA synthetase medium chain family member 2A is a protein that in humans is encoded by the ACSM2A gene. (wikipedia.org)
  • This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. (wikipedia.org)
  • The gene for the protein has been cloned and a common mutation, G1528C, has been identified in 87% of mutant alleles. (medscape.com)
  • Furthermore, we analysed the 5'-flanking region of the human adipose differentiation-related protein ( adrp ) gene that responded to all subtypes of PPARs. (biomedcentral.com)
  • C ) in the HADHA gene that encodes for mitochondrial LCHAD estimated a carrier frequency of 1:240 in Finland. (medscape.com)
  • The aim of this study was to clone the mRNA sequence of the Acyl-CoA dehydrogenase long chain ( ACADL ) gene of goats and explore the effect of ACADL on the differentiation of subcutaneous fat cells on this basis. (animbiosci.org)
  • Most metabolic disorders are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. (newworldencyclopedia.org)
  • The expression levels of LPIN1-target genes [peroxisome proliferator-activated receptors delta and alpha (PPARδ, PPARα), peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α), acyl-coenzyme A dehydrogenase, very long (ACADVL), carnitine palmitoyltransferase IB and 2 (CPT1B and CPT2)] were not affected while lipin-2 protein level, a closely related member of the family, was increased. (nih.gov)
  • The mitochondrial membrane‐associated carnitine palmitoyltransferase system is a validated target for the treatment of type 2 diabetes mellitus. (siderac.com)
  • The amino acid carnitine is required for the transport of long-chain fatty acyl coenzyme A (CoA) esters into myocyte mitochondria, where they are oxidized for energy. (msdmanuals.com)
  • Accumulation of the 3-carbon fatty acyl-CoA within the mitochondrion leads to decreased free CoA for other reactions, which is alleviated by conversion of propionyl CoA to propionyl-carnitine. (medscape.com)
  • At the end of the exposure (90 min), brain-isolated mitochondria were measured for mitochondrial respiration. (lu.se)
  • Long-chain 3-hydroxy acyl-coenzyme A dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that make up the trifunctional protein of the inner mitochondrial membrane. (medscape.com)
  • The molecular defect occurs in the mitochondrial trifunctional protein (MTP). (medscape.com)
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that make up the trifunctional protein of the inner mitochondrial membrane. (medscape.com)
  • Thus, the clinical features may result from either toxicity due to long-chain acyl-CoA esters that cause cardiomyopathy and cardiac arrhythmias or from a block in long-chain fatty acid oxidation that leads to an inability to synthesize ketone bodies and/or adenosine triphosphate from long-chain fatty acids. (medscape.com)
  • C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. (medscape.com)
  • In the early reprogramming process, fatty acid oxidation upregulated oxidative phosphorylation and downregulated protein kinase C activity. (biomedcentral.com)
  • We demonstrated that fatty acid oxidation promotes reprogramming by enhancing oxidative phosphorylation and inhibiting protein kinase C activity in the early stage of the reprogramming process. (biomedcentral.com)
  • Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders. (medscape.com)
  • Reduced coenzyme Q passes the electrons to cytochrome b and releases 2H+ into the mitochondrial matrix The oxidation of ubiquinol involves the successive action of 2 enzymes: a) - Ubiquinol (coenzyme Q) dehydrogenase which transfers electrons to cytochrome c. (drugstorepdfsearch.com)
  • The sulfur and iron are thought to take part in the oxidation-reduction mechanism between flavoproteins and coenzyme Q as the iron atom in these complexes oscillates between oxidation and reduction that allows them to either give up or accept electrons. (drugstorepdfsearch.com)
  • Mechanistically, this resistance requires sustained activation of mTORC1 and the mechanistic target of rapamycin (mTOR)C1-dependent induction of sterol regulatory element-binding protein 1 (SREBP1), a central transcription factor regulating lipid metabolism. (biomed.news)
  • These beneficial effects were associated with increased thermogenic activity in brown adipose tissue, mitochondrial activity and AMPK activation in skeletal muscle, reduced hypertrophy and macrophage infiltration of subcutaneous and visceral adipocytes, reduced hepatic lipid content and enhanced metabolic signaling. (bvsalud.org)
  • Insulin signaling affects multiple downstream pathways including mitogen-activated protein kinase (MAPK), which controls growth, sterol regulatory element-binding protein 1 (SREBP-1), which stimulates the synthesis of lipid and cholesterol as well as the family of Forkhead (FOXO) transcription factors regulating metabolism and autophagy [ 9 ] [ 10 ] . (encyclopedia.pub)
  • ACADL is not only a key protein in the liver metabolism, but also an important regulator in lipid metabolism [ 8 , 9 ]. (animbiosci.org)
  • It is a small molecule, which is soluble in lipid, so it is freely mobile in the inner mitochondrial membrane colleting reducing equivalents from the more fixed component of the respiratory chain. (drugstorepdfsearch.com)
  • It has also been shown that PPARs can induce transcription of acyl coenzyme A oxidase and cytochrome P450 A6 (CYP450 A6) through interaction with specific response elements. (thermofisher.com)
  • Cytochrome c is a water soluble, peripheral membrane protein. (drugstorepdfsearch.com)
  • The protein is an octamer composed of 4 alpha subunits that contain the LCEH and LCHAD activities and 4 beta subunits that contain the LCKT activity. (medscape.com)
  • Measurements of the oxygen consumption rate (OCR) and ATP production rate revealed that LW1564 suppressed mitochondrial respiration, thereby increasing the intracellular oxygen concentration to stimulate HIF-1α degradation. (biomed.news)
  • Nuclear hormone receptors are ligand-dependent intracellular proteins that stimulate transcription of specific genes by binding to specific DNA sequences following activation by the appropriate ligand. (thermofisher.com)
  • Proliferation was characterized by enrichment in genes involved in basic cellular and metabolic processes (transcription, ribosome biogenesis, translation and protein folding), cellular remodelling and autophagy. (biomedcentral.com)
  • Lysosomal function is critical for organismal homeostasis-mutations in genes encoding lysosomal proteins cause severe human disorders known as lysosomal storage diseases, and lysosome dysfunction is implicated in age-associated diseases including cancer, neurodegeneration and metabolic syndrome. (stanford.edu)
  • Its reduced form (NADH+H+) passes its hydrogen to flavoprotein containing FMN and iron sulfur protein (FeS). (drugstorepdfsearch.com)
  • Furthermore, in this chapter, we provide a protocol for mitochondrial enrichments from Drosophila larvae and flies together with a procedure to generate high-quality peptides for further analysis by mass spectrometry. (biomed.news)
  • Experiments based on two dimensional blue native electrophoresis indicated that ETHE1 protein works as a supramolecular, presumably homodimeric, complex, and a three dimensional model of the protein suggests that it is likely to be a mitochondrial matrix thioesterase acting on a still unknown substrate. (bmj.com)
  • Further, there are signaling pathways that participate in regulation, such as Wnt channel, mitogen-activated protein kinase (MAPK) channel, bone morphogenetic protein (BMPs) channel, peroxisome proliferator activated-receptors (PPARs) channel, and Notch channel. (frontiersin.org)
  • Results: The cyanide group showed significantly increased lactate and decreased hypotension with decreased cerebral CIV-linked mitochondrial respiration. (lu.se)
  • We conclude by enlisting the current challenges that need to be addressed before strategies to harness microglial phagocytosis to clear pathological protein deposits in AD and other neurodegenerative disorders can be widely adopted. (biomedcentral.com)
  • Hydrolyzes phosphatidylserine (PS) in the form of liposomes and 1-acyl-2 lysophosphatidylserine (lyso-PS), but not triolein, phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidic acid (PA) or phosphatidylinositol (PI). (inrae.fr)
  • Conclusions: The key finding demonstrates mitochondrial dysfunction in brain tissue that corresponds with a decrease in mitochondrial function, ATP concentrations, and an elevated LPR indicating brain dysfunction at a sub-lethal dose of cyanide. (lu.se)
  • carnitine in which the acyl group is specified as palmitoyl (hexadecanoyl). (chemspider.com)
  • A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
  • The cDNA inserts of these clones together encompass a region of 2,177 bases, encoding the entire protein of 655 amino acids, including a 40-amino acid leader peptide and a 615-amino acid mature polypeptide. (wikigenes.org)
  • Western blot analysis of the ETHE1 protein indicated that some of the missense mutations are associated with the presence of the protein, suggesting that the corresponding wild type amino acid residues have a catalytic function. (bmj.com)
  • d) It is highly significant in the liver and kid-neys of birds which excrete uric acid as the end product of purine metabolism and also of protein and amino acid catabolism. (biologydiscussion.com)
  • This Review summarizes the more recent biochemical, cellular and mouse model studies that underscore the importance of the ER acetylation process in maintaining protein homeostasis and autophagy within the secretory pathway, and its impact on developmental and age-associated diseases. (biologists.com)
  • This thesis describes the cloning and recombinant expression of domains from the human RBBP6 protein for future in vitro binding studies with pRb and p53. (uwc.ac.za)
  • human-ABHD12 Homo sapiens (Human) abhydrolase domain-containing protein 12. (inrae.fr)
  • Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. (medscape.com)
  • The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (smpdb.ca)
  • The other 2 activities of the protein are 2-enoyl coenzyme A (CoA) hydratase (LCEH) and long-chain 3-ketoacyl CoA thiolase (LCKT). (medscape.com)
  • The protein is an octamer composed of 4 alpha subunits that contain the LCEH and long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activities, and 4 beta subunits that contain the LCKT activity. (medscape.com)