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Titolo:
Carnitine transport by organic cation transporters and systemic carnitine deficiency
Autore:
Lahjouji, K; Mitchell, GA; Qureshi, IA;
Indirizzi:
Hop St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada Hop St Justine Montreal PQ Canada H3T 1C5 t, Montreal, PQ H3T 1C5, Canada
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 4, volume: 73, anno: 2001,
pagine: 287 - 297
SICI:
1096-7192(200108)73:4<287:CTBOCT>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
JUVENILE VISCERAL STEATOSIS; TISSUE DISTRIBUTION PATTERN; CATION/CARNITINE TRANSPORTER; JVS MICE; FUNCTIONAL-CHARACTERISTICS; MISSENSE MUTATION; RAT-KIDNEY; OCTN2 GENE; MOUSE; EXPRESSION;
Keywords:
carnitine transport; organic cation transporters; OCTN2 mutations; systemic carnitine deficiency; jvs mouse;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
56
Recensione:
Indirizzi per estratti:
Indirizzo: Qureshi, IA Hop St Justine, Div Med Genet, 3175 Cote St Catherine, Montreal, PQ H3T 1C5, Canada Hop St Justine 3175 Cote St Catherine Montreal PQ Canada H3T 1C5
Citazione:
K. Lahjouji et al., "Carnitine transport by organic cation transporters and systemic carnitine deficiency", MOL GEN MET, 73(4), 2001, pp. 287-297

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 asthe 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). TheSCD 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 resultin 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 transporteroctn2. 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 indesigning new drugs that regulate carnitine transport activity. (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 20:45:36