Implementation of a method using tritiated substrates as a diagnostic tool for OCTN2 deficiency.
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Introduction: The transport of carnitine into the cell is mediated by a high-affinity sodium-dependent plasmalemmal carnitine transporter, OCTN2. Carnitine is a zwitterion essential for the mitochondrial oxidation of long-chain fatty acids. Primary carnitine deficiency is a consequence of the deficiency of OCTN2.
Objective: The objective of the present study was to analyse the oxidation rate of tritiated substrates by fibroblasts from patients suffering OCTN2 deficiency and controls.
Materials and methods: Fibroblasts from patients and controls were incubated with [3H]-palmitate and [3H]-miristate and the oxidation of these substrates were measured in nmol/hour/mg protein.
Results: We found depressed the oxidation of tritiated substrates in fibroblasts from patients suffering the deficiency of OCTN2 in more than 60%.
Conclusion: This modified technique enables us the in vitro diagnosis or primary carnitine deficiency.
Objective: The objective of the present study was to analyse the oxidation rate of tritiated substrates by fibroblasts from patients suffering OCTN2 deficiency and controls.
Materials and methods: Fibroblasts from patients and controls were incubated with [3H]-palmitate and [3H]-miristate and the oxidation of these substrates were measured in nmol/hour/mg protein.
Results: We found depressed the oxidation of tritiated substrates in fibroblasts from patients suffering the deficiency of OCTN2 in more than 60%.
Conclusion: This modified technique enables us the in vitro diagnosis or primary carnitine deficiency.
- OCTN2
- Carnitine transporter
- Primary carnitine deficiency
Osorio, J. H. (2008). Implementation of a method using tritiated substrates as a diagnostic tool for OCTN2 deficiency. Colombia Medica, 39(4), 323–327. https://doi.org/10.25100/cm.v39i4.614
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