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Reduced tissue carnitine O-palmitoyltransferase 2 activity

MedGen UID:
868522
•Concept ID:
C4022921
•
Finding
Synonyms: Reduced carnitine O-palmitoyltransferase activity; Reduced carnitine O-palmitoyltransferase level
 
HPO: HP:0012380

Definition

Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced tissue carnitine O-palmitoyltransferase 2 activity

Recent clinical studies

Etiology

Yam Gruel alone and in combination with metformin regulates hepatic lipid metabolism disorders in a diabetic rat model by activating the AMPK/ACC/CPT-1 pathway.
Dai Y, Qiu C, Zhang D, Li M, Liu W
Lipids Health Dis 2024 Jan 25;23(1):28. doi: 10.1186/s12944-024-02014-2. PMID: 38273354Free PMC Article
Discovery of analogues of non-β oxidizable long-chain dicarboxylic fatty acids as dual inhibitors of fatty acids and cholesterol synthesis: Efficacy of lead compound in hyperlipidemic hamsters reveals novel mechanism.
Srivastava RAK, Hurley TR, Oniciu D, Adeli K, Newton RS
Nutr Metab Cardiovasc Dis 2021 Jul 22;31(8):2490-2506. Epub 2021 Jun 1 doi: 10.1016/j.numecd.2021.05.024. PMID: 34172319
The effect of high-fat diet and inhibition of ceramide production on insulin action in liver.
Zabielski P, Daniluk J, Hady HR, Markowski AR, Imierska M, Górski J, Blachnio-Zabielska AU
J Cell Physiol 2019 Feb;234(2):1851-1861. Epub 2018 Aug 1 doi: 10.1002/jcp.27058. PMID: 30067865
Extracts from Aralia elata (Miq) Seem alleviate hepatosteatosis via improving hepatic insulin sensitivity.
Hwang KA, Hwang YJ, Kim GR, Choe JS
BMC Complement Altern Med 2015 Oct 5;15:347. doi: 10.1186/s12906-015-0871-5. PMID: 26438035Free PMC Article
Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells.
Peluso G, Petillo O, Margarucci S, Grippo P, Melone MA, Tuccillo F, Calvani M
J Cell Physiol 2005 May;203(2):439-46. doi: 10.1002/jcp.20239. PMID: 15515015

Diagnosis

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR, Zierz S
Molecules 2020 Apr 13;25(8) doi: 10.3390/molecules25081784. PMID: 32295037Free PMC Article
The effect of high-fat diet and inhibition of ceramide production on insulin action in liver.
Zabielski P, Daniluk J, Hady HR, Markowski AR, Imierska M, Górski J, Blachnio-Zabielska AU
J Cell Physiol 2019 Feb;234(2):1851-1861. Epub 2018 Aug 1 doi: 10.1002/jcp.27058. PMID: 30067865
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D, Motlagh L, Robaa D, Zierz S
Int J Mol Sci 2017 Jan 3;18(1) doi: 10.3390/ijms18010082. PMID: 28054946Free PMC Article
Extracts from Aralia elata (Miq) Seem alleviate hepatosteatosis via improving hepatic insulin sensitivity.
Hwang KA, Hwang YJ, Kim GR, Choe JS
BMC Complement Altern Med 2015 Oct 5;15:347. doi: 10.1186/s12906-015-0871-5. PMID: 26438035Free PMC Article
Selected metabolic alterations in the ischemic heart and their contributions to arrhythmogenesis.
Corr PB, Yamada KA
Herz 1995 Jun;20(3):156-68. PMID: 7543431

Therapy

Yam Gruel alone and in combination with metformin regulates hepatic lipid metabolism disorders in a diabetic rat model by activating the AMPK/ACC/CPT-1 pathway.
Dai Y, Qiu C, Zhang D, Li M, Liu W
Lipids Health Dis 2024 Jan 25;23(1):28. doi: 10.1186/s12944-024-02014-2. PMID: 38273354Free PMC Article
5-ALA ameliorates hepatic steatosis through AMPK signaling pathway.
Yu H, Zhang M, Ma Y, Lu J, Pan J, Pan P, Chen H, Jia W
J Mol Endocrinol 2017 Aug;59(2):121-128. Epub 2017 May 31 doi: 10.1530/JME-16-0260. PMID: 28566408
Extracts from Aralia elata (Miq) Seem alleviate hepatosteatosis via improving hepatic insulin sensitivity.
Hwang KA, Hwang YJ, Kim GR, Choe JS
BMC Complement Altern Med 2015 Oct 5;15:347. doi: 10.1186/s12906-015-0871-5. PMID: 26438035Free PMC Article
Molecular therapy for obesity and diabetes based on a long-term increase in hepatic fatty-acid oxidation.
Orellana-Gavaldà JM, Herrero L, Malandrino MI, Pañeda A, Sol Rodríguez-Peña M, Petry H, Asins G, Van Deventer S, Hegardt FG, Serra D
Hepatology 2011 Mar;53(3):821-32. Epub 2011 Feb 11 doi: 10.1002/hep.24140. PMID: 21319201
Muscle carnitine deficiency in patients with severe peripheral vascular disease.
Brevetti G, Angelini C, Rosa M, Carrozzo R, Perna S, Corsi M, Matarazzo A, Marcialis A
Circulation 1991 Oct;84(4):1490-5. doi: 10.1161/01.cir.84.4.1490. PMID: 1914091

Prognosis

Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer.
Liu F, Li X, Yan H, Wu J, Yang Y, He J, Chen J, Jiang Z, Wu F, Jiang Z
Cell Signal 2022 Apr;92:110267. Epub 2022 Jan 30 doi: 10.1016/j.cellsig.2022.110267. PMID: 35108639
Discovery of analogues of non-β oxidizable long-chain dicarboxylic fatty acids as dual inhibitors of fatty acids and cholesterol synthesis: Efficacy of lead compound in hyperlipidemic hamsters reveals novel mechanism.
Srivastava RAK, Hurley TR, Oniciu D, Adeli K, Newton RS
Nutr Metab Cardiovasc Dis 2021 Jul 22;31(8):2490-2506. Epub 2021 Jun 1 doi: 10.1016/j.numecd.2021.05.024. PMID: 34172319
Targeting CPT1B as a potential therapeutic strategy in castration-resistant and enzalutamide-resistant prostate cancer.
Abudurexiti M, Zhu W, Wang Y, Wang J, Xu W, Huang Y, Zhu Y, Shi G, Zhang H, Zhu Y, Shen Y, Dai B, Wan F, Lin G, Ye D
Prostate 2020 Sep;80(12):950-961. Epub 2020 Jul 10 doi: 10.1002/pros.24027. PMID: 32648618
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.
Chalmers RA, Stanley CA, English N, Wigglesworth JS
J Pediatr 1997 Aug;131(2):220-5. doi: 10.1016/s0022-3476(97)70157-4. PMID: 9290607

Clinical prediction guides

Downregulation of fatty acid oxidation by involvement of HIF-1α and PPARγ in human gastric adenocarcinoma and related clinical significance.
Ezzeddini R, Taghikhani M, Salek Farrokhi A, Somi MH, Samadi N, Esfahani A, Rasaee MJ
J Physiol Biochem 2021 May;77(2):249-260. Epub 2021 Mar 17 doi: 10.1007/s13105-021-00791-3. PMID: 33730333
Targeting CPT1B as a potential therapeutic strategy in castration-resistant and enzalutamide-resistant prostate cancer.
Abudurexiti M, Zhu W, Wang Y, Wang J, Xu W, Huang Y, Zhu Y, Shi G, Zhang H, Zhu Y, Shen Y, Dai B, Wan F, Lin G, Ye D
Prostate 2020 Sep;80(12):950-961. Epub 2020 Jul 10 doi: 10.1002/pros.24027. PMID: 32648618
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D, Motlagh L, Robaa D, Zierz S
Int J Mol Sci 2017 Jan 3;18(1) doi: 10.3390/ijms18010082. PMID: 28054946Free PMC Article
Control of lipid oxidation during exercise: role of energy state and mitochondrial factors.
Sahlin K, Harris RC
Acta Physiol (Oxf) 2008 Dec;194(4):283-91. Epub 2008 Jul 9 doi: 10.1111/j.1748-1716.2008.01879.x. PMID: 18557841
Selected metabolic alterations in the ischemic heart and their contributions to arrhythmogenesis.
Corr PB, Yamada KA
Herz 1995 Jun;20(3):156-68. PMID: 7543431

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