{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T05:46:20Z","timestamp":1778391980789,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,1,15]],"date-time":"2013-01-15T00:00:00Z","timestamp":1358208000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["faseb.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The FASEB Journal"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:p>\n                    Acylcarnitines are commonly used in the diagnosis of mitochondrial fatty acid \u03b2\u2010oxidation disorders (mFAODs). It is generally assumed that this plasma acylcarnitine profile reflects the mitochondrial accumulation of acyl\u2010CoAs. The identity of the enzymes and the mitochondrial and plasmalemmal transporters involved in the synthesis and export of these metabolites have remained undefined. We used lentiviral shRNA to knock down the expression of medium\u2010chain acyl\u2010CoA dehydrogenase (MCAD) in control and carnitine palmitoyltransferase 2 (CPT2)\u2010, carnitine\/acylcarnitine translocase (CACT)\u2010, and plasmalemmal carnitine transporter (OCTN2)\u2010deficient human fibroblasts. These cell lines, including mock\u2010transduced controls, were loaded with decanoic acid and carnitine, followed by the measurement of the acylcarnitine profile in the extracellular medium. In control fibroblasts, MCAD knockdown markedly increased the production of octanoylcarnitine (3\u2010fold,\n                    <jats:italic>P<\/jats:italic>\n                    &lt;0.01). OCTN2\u2010deficient cell lines also showed extracellular accumulation of octanoylcarnitine (2.8\u2010fold,\n                    <jats:italic>P<\/jats:italic>\n                    &lt;0.01), suggesting that the cellular export of acylcarnitines does not depend on OCTN2. In contrast, in CPT2\u2010 and CACT\u2010deficient cells, the accumulation of octanoylcarnitine in the medium did not significantly increase in the MCAD knockdown. Similar results were obtained using pharmacological inhibition of CPT2 in fibroblasts from MCAD\u2010deficient individuals. This shows that CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mFAOD.\u2014Violante, S., IJlst, L., te Brinke, H., Tavares de Almeida, I., Wanders, R. J. A., Ventura, F. V., Houten, S. M. Carnitine palmitoyltransferase 2 and carnitine\/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.\n                    <jats:italic>FASEB J.<\/jats:italic>\n                    27, 2039\u20132044 (2013).\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.fasebj.org\">www.fasebj.org<\/jats:ext-link>\n                  <\/jats:p>","DOI":"10.1096\/fj.12-216689","type":"journal-article","created":{"date-parts":[[2013,1,16]],"date-time":"2013-01-16T00:20:50Z","timestamp":1358295650000},"page":"2039-2044","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Carnitine palmitoyltransferase 2 and carnitine\/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines"],"prefix":"10.1096","volume":"27","author":[{"given":"Sara","family":"Violante","sequence":"first","affiliation":[{"name":"Metabolism and Genetics Group Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL) Faculdade de Farm\u00e1cia Universidade de Lisboa Lisbon Portugal"},{"name":"Laboratory Genetic Metabolic Diseases, Department Clinical Chemistry and Pediatrics University of Amsterdam Amsterdam The Netherlands"}]},{"given":"Lodewijk","family":"IJlst","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department Clinical Chemistry and Pediatrics University of Amsterdam Amsterdam The Netherlands"}]},{"given":"Heleen te","family":"Brinke","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department Clinical Chemistry and Pediatrics University of Amsterdam Amsterdam The Netherlands"}]},{"given":"Isabel Tavares","family":"de Almeida","sequence":"additional","affiliation":[{"name":"Metabolism and Genetics Group Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL) Faculdade de Farm\u00e1cia Universidade de Lisboa Lisbon Portugal"}]},{"given":"Ronald J. 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