ProteinDeficiencyEnoyl-CoA hydraInner mitochonHADHBEnzymeDisordersSpermidineMetabolismInbornEnzymaticCardiolipinOxidativeGenesMatrixCellsSUBUNITDehydrogenaseHADHAFatty acid beta oxidationDefectsBeta-subunitsOxidative phosphorylationBiosynthesisVLCADMorphologyEnzymesHepaticMembraneCarnitinePathwayMetabolicComplexHumanPatientsFormResultsFamily
Protein51
- Mitochondrial trifunctional protein (MTP) is a protein attached to the inner mitochondrial membrane which catalyzes three out of the four steps in beta oxidation. (wikipedia.org)
- identified a human mitochondrial protein, monolysocardiolipin acyltransferase (MLCL AT-1), that is identical in amino acid sequence to the 59-kDa C-terminal end of MTP, linking MTP to the remodeling of cardiolipin from monolysocardiolipin. (wikipedia.org)
- Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). (medlineplus.gov)
- Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. (medlineplus.gov)
- Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy). (medlineplus.gov)
- Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. (medlineplus.gov)
- Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. (medlineplus.gov)
- These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. (medlineplus.gov)
- As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. (medlineplus.gov)
- Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all three functions of this enzyme complex. (medlineplus.gov)
- This abnormal buildup causes the other signs and symptoms of mitochondrial trifunctional protein deficiency. (medlineplus.gov)
- Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. (medlineplus.gov)
- The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid beta- oxidation cycle. (trdizin.gov.tr)
- Mitochondrial trifunctional protein deficiency (MTPD), a rare condition that leads to failure of converting certain fats to energy is characterized by decreased activity of three enzymes in the enzyme complex. (trdizin.gov.tr)
- Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. (trdizin.gov.tr)
- Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. (trdizin.gov.tr)
- Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family. (trdizin.gov.tr)
- Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. (trdizin.gov.tr)
- Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. (nih.gov)
- 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)
- 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)
- LCHAD resides in the α-subunit of the mitochondrial tri-functional protein and catalyzes the third step in the β-oxidation of fatty acids in the mitochondria. (elsevierpure.com)
- Spermidine activates mitochondrial trifunctional protein and improves antitumor immunity in mice. (nih.gov)
- HADHB is a subunit of the mitochondrial trifunctional protein and has thiolase activity. (wikidoc.org)
- This gene encodes the beta subunit of the mitochondrial trifunctional protein, a catalyst of mitochondrial beta-oxidation of long chain fatty acids . (wikidoc.org)
- The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. (wikidoc.org)
- Mutations in this gene, along with mutations in HADHA , result in trifunctional protein deficiency . (wikidoc.org)
- [4] Trifunctional protein deficiency is characterized by decreased activity of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase. (wikidoc.org)
- We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (rhea-db.org)
- The diminution of trifunctional protein was associated with a decreased activity of enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase, when measured using medium-chain to long-chain substrates. (rhea-db.org)
- b) In cells from patient 2, the rate of degradation of newly synthesized trifunctional protein was faster than that in control cells, giving rise to a trifunctional protein amounting to 60% of the control levels. (rhea-db.org)
- These data suggest a subtle abnormality of trifunctional protein in cells from patient 2. (rhea-db.org)
- Taken together, the results obtained show that in both patients, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is caused by an abnormality in the trifunctional protein, even though there is a heterogeneity in both patients. (rhea-db.org)
- 10-formylTHF serves as a formyl donor for MET-tRNA in mitochondrial protein synthesis, and as a precursor of purines. (alzforum.org)
- A mitochondrial protein consisting of four alpha-subunits and four beta-subunits. (bvsalud.org)
- Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. (nih.gov)
- Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations. (nih.gov)
- 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)
- 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)
- LCHAD activity resides on the mitochondrial trifunctional protein, which acts to catalyze 3 sequential steps in β-oxidation. (perkinelmer.com)
- LCHAD deficiency occurs as an isolated defect (described here) or together with deficiency of the other 2 enzymes in mitochondrial trifunctional protein deficiency. (perkinelmer.com)
- C) in the -subunit of mitochondrial trifunctional protein. (perkinelmer.com)
- Mitochondrial trifunctional protein deficiency, due to mutations in hydratase subunit A (HADHA), results in sudden infant death syndrome (SIDS) with no cure. (metabolomicsworkbench.org)
- Recently, researchers from Kyoto University in Japan published a research paper entitled "Spermidine activates mitochondrial trifunctional protein and improves antitumor immunity in mice" in Science. (julyherb.com)
- This study reveals that spermidine directly binds and activates the mitochondrial trifunctional protein MTP, triggers fatty acid oxidation, and ultimately leads to enhanced mitochondrial metabolism in CD8+ T cells and promotes anti-tumor immunity. (julyherb.com)
- To explore whether spermidine directly activates fatty acid oxidase (FAO) in mitochondria, the research team determined by biochemical analysis that spermidine binds to mitochondrial trifunctional protein (MTP), a central enzyme in fatty acid β-oxidation. (julyherb.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)
- We found that the FAO trifunctional protein (TFP) interacts with the NADH-binding domain of complex I of the ETC, whereas the electron transfer enzyme flavoprotein dehydrogenase interacts with ETC complex III. (oroboros.at)
Deficiency3
- Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of long-chain acyl CoA dehydrogenase deficiency (LCHAD) deficiency. (medscape.com)
- Long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. (perkinelmer.com)
- Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. (ac.ir)
Enoyl-CoA hydra1
- The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. (nih.gov)
Inner mitochon3
- This is especially interesting, because up until then it was unknown exactly how MTP was associated with the inner mitochondrial membrane, and this discovery may provide the explanation. (wikipedia.org)
- An enzyme that catalyzes reversibly the conversion of palmitoyl-CoA to palmitoylcarnitine in the inner mitochondrial membrane. (lookformedical.com)
- The ETC is organized into inner mitochondrial membrane supercomplexes that promote substrate channeling and catalytic efficiency. (oroboros.at)
HADHB1
- Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase , acetyl-CoA acyltransferase , or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene . (wikidoc.org)
Enzyme3
- MTHFD1L is the mitochondrial form of an enzyme whose function is to catalyze a reversible transformation of 5,10-methylenetetrahydrofolate to 10-formyl tetrahydrofolate (10-formylTHF). (alzforum.org)
- In the cytoplasm formate enters the one-carbon pool through an ATP-dependent conversion to 10-formylTHF, catalyzed by the trifunctional enzyme MTHFD1-the cytoplasmic form of the enzyme (MacFarlane et al. (alzforum.org)
- Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients. (nih.gov)
Disorders1
- 1. Morris AAM, Spiekerkoetter U. Disorders of mitochondrial fatty acid oxidation and riboflavin metabolism. (trdizin.gov.tr)
Spermidine1
- Supplementation with spermidine can enhance fatty acid oxidation activity, improve mitochondrial activity and cytotoxic function of CD8+ T cells. (julyherb.com)
Metabolism1
- 2012) demonstrated that thyroid hormone stimulates mitochondrial metabolism in a pathway mediated by MTP. (wikipedia.org)
Inborn2
- The pathogenesis of Reye syndrome, while not precisely elucidated, appears to involve mitochondrial injury resulting in dysfunction that disrupts oxidative phosphorylation and fatty-acid beta-oxidation in a virus-infected, sensitized host potentially with an underlying occult inborn error of fatty acid oxidation, urea cycle or mitochondrial disorder. (medscape.com)
- 5. Bonnefont JP, Bastin J, Behin A, Djouadi F. Bezafibrate for an inborn mitochondrial beta-oxidation defect. (ac.ir)
Enzymatic1
- The in-gel activity assay (IGA) is a powerful technique that uses enzymatic activity and compares intensities of detected bands in mitochondrial respiratory chain supercomplexes, and it is applicable to eukaryotic organisms. (biologists.com)
Cardiolipin2
- This suggests a possible link between mitochondrial membrane cardiolipin content and beta oxidation. (wikipedia.org)
- This intermediate gave rise to mature-like cardiomyocytes in control cells but, mutant cells transitioned to a pathological state with reduced fatty acid beta-oxidation (FAO), reduced mitochondrial proton gradient, disrupted cristae structure and defective cardiolipin remodeling. (metabolomicsworkbench.org)
Oxidative1
- The pathogenesis of Reye syndrome, while not precisely elucidated, appears to involve mitochondrial injury resulting in dysfunction that inhibits oxidative phosphorylation and fatty-acid beta-oxidation in a virus-infected, sensitized host. (medscape.com)
Genes1
- Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados. (igenomix.com)
Matrix1
- VLCAD is a homodimer containing a FAD cofactor that is the first step in the mitochondrial matrix for oxidation of the acyl-CoA substrate. (oroboros.at)
Cells1
- Three mitochondrial metabolic pathways are required for efficient energy production in eukaryotic cells: the electron transfer chain (ETC), fatty acid β-oxidation (FAO), and the tricarboxylic acid cycle. (oroboros.at)
SUBUNIT5
- 6. Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients. (nih.gov)
- 10. HADHA, the alpha subunit of the mitochondrial trifunctional protein, is involved in long-chain fatty acid-induced autophagy in intestinal epithelial cells. (nih.gov)
- This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. (nih.gov)
- The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. (nih.gov)
- Alternatively, variants typically involving the beta subunit ( HADHB ), and certain types of alpha subunit variants, result in dysfunction of the entire enzyme complex, causing the similar though generally more severe condition trifunctional protein (TFP) deficiency. (medicalhomeportal.org)
Dehydrogenase6
- Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. (nih.gov)
- Mutations in nuclear genes encoding for mitochondrial proteins very long-chain acyl-CoA dehydrogenase (VLCAD) and trifunctional protein (TFP) cause rare autosomal recessive disorders. (nih.gov)
- The diminution of trifunctional protein was associated with a decreased activity of enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase, when measured using medium-chain to long-chain substrates. (rhea-db.org)
- Taken together, the results obtained show that in both patients, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is caused by an abnormality in the trifunctional protein, even though there is a heterogeneity in both patients. (rhea-db.org)
- The most common lipid metabolism disorders presenting in adulthood include carnitine palmitoyltransferase II deficiency (CPT II), trifunctional protein deficiency (TFP), and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD). (kennedykrieger.org)
- In LCHADD/TFP deficiency, the trifunctional protein catalyzes 3 steps in the beta-oxidation of fatty acids, including the hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase. (medicalhomeportal.org)
HADHA2
- Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. (medlineplus.gov)
- Other mutations in HADHA or HADHB often lead to significant reduction in all three enzymatic activities and result in trifunctional protein deficiency (TFPD). (nih.gov)
Fatty acid beta oxidation3
- The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid beta oxidation cycle. (kocaeli.edu.tr)
- The pathogenesis of Reye syndrome, while not precisely elucidated, appears to involve mitochondrial injury resulting in dysfunction that disrupts oxidative phosphorylation and fatty-acid beta-oxidation in a virus-infected, sensitized host potentially with an underlying occult inborn error of fatty acid oxidation, urea cycle or mitochondrial disorder. (medscape.com)
- The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. (kidney.de)
Defects4
- Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. (medlineplus.gov)
- The etiology of retinopathy among patients with defects in trifunctional protein is unknown. (nih.gov)
- Studies in fibroblasts derived from patients with mutations in VLCAD and TFP exhibit mitochondrial defects. (nih.gov)
- Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease. (cdc.gov)
Beta-subunits1
- A mitochondrial protein consisting of four alpha-subunits and four beta-subunits. (bvsalud.org)
Oxidative phosphorylation2
- In this study, we analyzed mitochondrial oxidative phosphorylation by quantifying cellular oxygen consumption rate (OCR) and quantified the extracellular acidification rate (ECAR) in C-MSC with/without Rab27b knockdown. (frontiersin.org)
- Knockdown of Rab27b increased glycolysis, but significantly reduced mitochondrial oxidative phosphorylation (OXPHOS) with loss of mitochondrial membrane potential in C-MSC. (frontiersin.org)
Biosynthesis1
- This biosynthesis triggers for necrosis, soft substrate, and actin-based regulation but at the repulsive superfamily is the mitochondrial kinases of the Down-regulation from hypoxia proteins, kidney, and epidermal kinases. (erik-mill.de)
VLCAD3
- To gain insights on pathological changes that account for the mitochondrial deficits we performed quantitative proteomic, biochemical, and morphometric analyses in fibroblasts derived from subjects with three different VLCAD and three different TFP mutations. (nih.gov)
- Decreased mitochondrial respiratory capacity in cells with VLCAD and TFP mutations was quantified after glucose removal and cells with TFP mutations had lower levels of glycogen. (nih.gov)
- Fibroblasts with VLCAD and to a lesser extend cells with TFP mutations had increased levels of mitochondrial respiratory chain proteins and proteins that facilitate the assembly of respiratory complexes. (nih.gov)
Morphology1
- potential mechanisms with particular reference to changes in mitochondrial morphology and function. (u-szeged.hu)
Enzymes2
- As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. (medlineplus.gov)
- Dietary \alpha -18:3 significantly increased the mRNA levels of hepatic fatty acid oxidation enzymes including carnitine palmitoyltransferase I and II, mitochondrial trifunctional protein, acyl-CoA oxidase, peroxisomal bifunctional protein, mitochondrial and peroxisomal 3-ketoacyl-CoA thiolases, 2, 4-dienoyl-CoA reductase and \Delta ^3 , \Delta ^2 -enoyl-CoA isomerase. (iospress.com)
Hepatic2
- 15. Inhibition of mitochondrial β-oxidation by miR-107 promotes hepatic lipid accumulation and impairs glucose tolerance in vivo. (nih.gov)
- Hepatic mitochondrial dysfunction results in hyperammonemia, which is thought to induce astrocyte edema, resulting in cerebral edema and increased intracranial pressure (ICP). (medscape.com)
Membrane2
- This suggests a possible link between mitochondrial membrane cardiolipin content and beta oxidation. (wikipedia.org)
- NNT is a mitochondrial inner membrane protein catalyzing the interconversion of NADH and NADPH within the matrix space of the organelle which has crucial roles in oxidative stress. (mitosciences.com)
Carnitine1
- The substrate specificity of carnitine palmitoyltransferase I appeared to be responsible for the differential mitochondrial oxidation rates of these acyl-CoA substrates. (iospress.com)
Pathway1
- Regarding the substrate specificity of \beta -oxidation pathway, mitochondrial and peroxisomal \beta -oxidation rate of \alpha -18:3-CoA, relative to 16:0- and 18:2-CoAs, was higher irrespective of the substrate/albumin ratios in the assay mixture or dietary fat sources. (iospress.com)
Metabolic1
- Gas chromatographic-mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni-Fanconi-Debré syndrome. (jc-metabolomics.com)
Complex2
- 12. Target Discovery of Selective Non-Small-Cell Lung Cancer Toxins Reveals Inhibitors of Mitochondrial Complex I. (nih.gov)
- The protein complex provides energy in the form of an electrochemical gradient, which may be used by either MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES or BACTERIAL PROTON-TRANSLOCATING ATPASES. (bvsalud.org)
Human1
- identified a human mitochondrial protein, monolysocardiolipin acyltransferase (MLCL AT-1), that is identical in amino acid sequence to the 59-kDa C-terminal end of MTP, linking MTP to the remodeling of cardiolipin from monolysocardiolipin. (wikipedia.org)
Patients1
- Methods: Patients with colorectal neoplasms who underwent en bloc resection with ESD were included in this study. (bvsalud.org)
Form1
- analyses encode to a tumor of isoelectric semaphorin( IF) factors that are mitochondrial proprotein Proteoglycans, which play subsequently and translocation to form respectively 10 family mechanism companies. (familie-vos.de)
Results1
- Objectives: Endoscopic submucosal dissection (ESD) enables en bloc resection of colorectal neoplasms, but occasionally results in positive horizontal margins (HMs). (bvsalud.org)
Family1
- Keratins are the trifunctional typical architecture of NOTCH1 family, signaling up to 85 phase of a generally associated product( Fuchs 1995). (familie-vos.de)