Gene-dose effect on carnitine transport activity in embryonic fibroblasts of JVS mice as a model of human carnitine transporter deficiency

Biochemical Pharmacology
N HashimotoAkira Tsuji

Abstract

Recently, the marked decline in renal carnitine reabsorption has been thought to account fotr the systemic carnitine deficiency in juvenile visceral steatosis (JVS) mice. We have conducted a kinetic analysis using embryonic fibroblasts derived from normal, heterozygous, and homozygous jvs mice and found that the high-affinity carnitine transporter (Km = 5.5 microM), which shows Na+ and temperature dependency and stereospecificity, is defective in homozygous jvs mice. Moreover, a gene dose-dependent decrease of carnitine transport activity, which was due to a decrease in the number of the transporter molecules, was found in heterozygous jvs mice. Similar phenomena have been observed in human primary carnitine deficiency. Therefore, JVS mice may be useful for understanding this extremely rare human hereditary disorder.

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Citations

Aug 15, 2002·Molecular Genetics and Metabolism·Karim LahjoujiIjaz A Qureshi
Jan 4, 2003·Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan·Akira Tsuji
Aug 18, 2001·Molecular Genetics and Metabolism·K LahjoujiI A Qureshi
Dec 29, 2005·Journal of Controlled Release : Official Journal of the Controlled Release Society·Qing LiAkira Tsuji
Sep 30, 1999·The Journal of Pharmacy and Pharmacology·K YokogawaA Tsuji
Nov 5, 2003·Biopharmaceutics & Drug Disposition·Akihiro InanoIkumi Tamai
Sep 25, 1999·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·K YokogawaA Tsuji
Dec 18, 2019·Journal of Inherited Metabolic Disease·Pablo Ranea-RoblesSander M Houten
Apr 19, 2005·Molecular Pharmaceutics·Ikumi TamaiAkira Tsuji

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