Implementation of a method using tritiated substrates as a diagnostic tool for OCTN2 deficiency.
Abstract
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.
Authors
Downloads
Download data is not yet available.
Keywords
- OCTN2
- Carnitine transporter
- Primary carnitine deficiency
Submitted
2009-12-02
|
411 |
How to Cite
Osorio, J. H. (1). Implementation of a method using tritiated substrates as a diagnostic tool for OCTN2 deficiency. Colombia Médica, 39(4), 323-327. https://doi.org/10.25100/cm.v39i4.614
Issue
Section
Original Articles
The copy rights of the articles published in Colombia Médica belong to the Universidad del Valle. The contents of the articles that appear in the Journal are exclusively the responsibility of the authors and do not necessarily reflect the opinions of the Editorial Committee of the Journal. It is allowed to reproduce the material published in Colombia Médica without prior authorization for non-commercial use