Open AccessImplementation of a method using tritiated substrates as a diagnostic tool for OCTN2 deficiency.
Author(s) -
José Henry Osório
Publication year - 1969
Publication title -
colombia medica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.455
H-Index - 18
eISSN - 1657-9534
pISSN - 0120-8322
DOI - 10.25100/cm.v39i4.614
Subject(s) - carnitine , transporter , beta oxidation , medicine , chemistry , endocrinology , in vitro , zwitterion , biochemistry , fatty acid , gene , organic chemistry , molecule
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.