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Carnitine transport by organic cation transporters and systemic carnitine deficiency.
Mol Genet Metab. 2001 Aug; 73(4):287-97.MG

Abstract

The intracellular homeostasis is controlled by different membrane transporters. Organic cation transporters function primarily in the elimination of cationic drugs, endogenous amines, and other xenobiotics in tissues such as the kidney, intestine, and liver. Among these molecules, carnitine is an endogenous amine which is an essential cofactor for mitochondrial beta-oxidation. Recently, a new family of transporters, named OCT (organic cation transporters) has been described. In this minireview, we present the recent knowledge about OCT and focus on carnitine transport, more particularly by the OCTN2. The importance of this sodium-dependent carnitine cotransporter, OCTN2, comes from various recently reported mutations in the gene which give rise to the primary systemic carnitine deficiency (SCD; OMIM 212140). The SCD is an autosomal recessive disorder of fatty acid oxidation characterized by skeletal myopathy, progressive cardiomyopathy, hypoglycemia and hyperammonemia. Most of the OCTN2 mutations identified in humans with SCD result in loss of carnitine transport function. Identifying these mutations will allow an easy targeting of the SCD syndrome. The characteristics of the juvenile visceral steatosis (jvs) mouse, an animal model of SCD showing similar symptoms as humans having this genetic disorder, are also described. These mice have a mutation in the gene encoding the mouse carnitine transporter octn2. Although various OCTN carnitine transporters have been identified and functionally characterized, their membrane localization and regulation are still unknown and must be investigated. This knowledge will also help in designing new drugs that regulate carnitine transport activity.

Authors+Show Affiliations

Division of Medical Genetics, Hôpital Sainte-Justine, 3175 Cote Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

11509010

Citation

Lahjouji, K, et al. "Carnitine Transport By Organic Cation Transporters and Systemic Carnitine Deficiency." Molecular Genetics and Metabolism, vol. 73, no. 4, 2001, pp. 287-97.
Lahjouji K, Mitchell GA, Qureshi IA. Carnitine transport by organic cation transporters and systemic carnitine deficiency. Mol Genet Metab. 2001;73(4):287-97.
Lahjouji, K., Mitchell, G. A., & Qureshi, I. A. (2001). Carnitine transport by organic cation transporters and systemic carnitine deficiency. Molecular Genetics and Metabolism, 73(4), 287-97.
Lahjouji K, Mitchell GA, Qureshi IA. Carnitine Transport By Organic Cation Transporters and Systemic Carnitine Deficiency. Mol Genet Metab. 2001;73(4):287-97. PubMed PMID: 11509010.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Carnitine transport by organic cation transporters and systemic carnitine deficiency. AU - Lahjouji,K, AU - Mitchell,G A, AU - Qureshi,I A, PY - 2001/8/18/pubmed PY - 2001/11/3/medline PY - 2001/8/18/entrez SP - 287 EP - 97 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 73 IS - 4 N2 - The intracellular homeostasis is controlled by different membrane transporters. Organic cation transporters function primarily in the elimination of cationic drugs, endogenous amines, and other xenobiotics in tissues such as the kidney, intestine, and liver. Among these molecules, carnitine is an endogenous amine which is an essential cofactor for mitochondrial beta-oxidation. Recently, a new family of transporters, named OCT (organic cation transporters) has been described. In this minireview, we present the recent knowledge about OCT and focus on carnitine transport, more particularly by the OCTN2. The importance of this sodium-dependent carnitine cotransporter, OCTN2, comes from various recently reported mutations in the gene which give rise to the primary systemic carnitine deficiency (SCD; OMIM 212140). The SCD is an autosomal recessive disorder of fatty acid oxidation characterized by skeletal myopathy, progressive cardiomyopathy, hypoglycemia and hyperammonemia. Most of the OCTN2 mutations identified in humans with SCD result in loss of carnitine transport function. Identifying these mutations will allow an easy targeting of the SCD syndrome. The characteristics of the juvenile visceral steatosis (jvs) mouse, an animal model of SCD showing similar symptoms as humans having this genetic disorder, are also described. These mice have a mutation in the gene encoding the mouse carnitine transporter octn2. Although various OCTN carnitine transporters have been identified and functionally characterized, their membrane localization and regulation are still unknown and must be investigated. This knowledge will also help in designing new drugs that regulate carnitine transport activity. SN - 1096-7192 UR - https://www.unboundmedicine.com/medline/citation/11509010/Carnitine_transport_by_organic_cation_transporters_and_systemic_carnitine_deficiency_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(01)93207-X DB - PRIME DP - Unbound Medicine ER -