A heterozygote phenotype is present in the jvs +/- mutant mouse livers

Molecular Genetics and Metabolism

Volumn 76, Issue 1, 2002, Pages 76-80

  Lahjouji, Karim ^a   Elimrani, Ihsan ^a   Wu, Jie ^a   Mitchell, Grant A ^a   Qureshi, Ijaz A ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Cholesterol; Heterozygote; jvs mice; Liver; Triglycerides

Indexed keywords

CARNITINE; CHOLESTEROL; TRIACYLGLYCEROL;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CARNITINE DEFICIENCY; CHOLESTEROL LIVER LEVEL; CONTROLLED STUDY; CORRELATION ANALYSIS; HEART MUSCLE; HETEROZYGOTE; JUVENILE VISCERAL STEATOSIS; KIDNEY CLEARANCE; LIPID STORAGE; LIPOLYSIS; LIVER; MOUSE; MUTANT; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SKELETAL MUSCLE; STEATOSIS;

ANIMALS; BODY WEIGHT; CARNITINE; CARRIER PROTEINS; CHOLESTEROL; DISEASE MODELS, ANIMAL; HETEROZYGOTE; LIVER; MEMBRANE PROTEINS; MICE; MUSCLE, SKELETAL; MUTATION; MYOCARDIUM; ORGANIC CATION TRANSPORT PROTEINS; TRIGLYCERIDES;

EID: 0036386372     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00017-3     Document Type: Article

References (28)

1. C.R. Roe, P.M. Coates, Mitochondrial fatty acid oxidation disorders, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Diseases, McGraw-Hill, New York, 1995, pp. 1508-1509.
2. R. Pons, D.C. De Vivo, Primary and secondary carnitine deficiency syndromes, J. Child Neurol. 10 (Suppl.) (1995) 2S8-2S24.
3. M.E. Tripp, M.L. Katcher, H.A. Peters, E.F. Gilbert, S. Arya, R.J. Hodach, A.L. Shug, Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: treatable cardiomyopathy, N. Engl. J. Med. 305 (1981) 385-390.
4. T. Matsuishi, K. Hirata, K. Terasawa, H. Kato, M. Yoshino, E. Ohtaki, F. Hirose, I. Nonaka, N. Sugiyama, K. Ohta, Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy, Neuropediatrics 16 (1985) 6-12.
5. X. Wu, P.D. Prasad, F.H. Leibach, V. Ganapathy, cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family, Biochem. Biophys. Res. Commun. 246 (1998) 589-595.
6. I. Tamai, R. Ohashi, J. Nezu, H. Yabuuchi, A. Oku, M. Shimane, Y. Sai, A. Tsuji, Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2, J. Biol. Chem. 273 (1998) 20378-20382.
7. T. Koizumi, H. Nikaido, J. Hayakawa, A. Nonomura, T. Yoneda, Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2° strain of mouse with similarities to Reye's syndrome, Lab. Anim. 22 (1988) 83-87.
8. M. Kuwajima, N. Kono, M. Horiuchi, Y. Imamura, A. Ono, Y. Inui, S. Kawata, T. Koizumi, J. Hayakawa, T. Saheki, S. Tarui, Animal model of systemic carnitine deficiency: analysis in C3H-H-2° strain of mouse associated with juvenile visceral steatosis, Biochem. Biophys. Res. Commun. 174 (1991) 1090-1094.
9. M. Kaido, H. Fujimura, A. Ono, K. Toyooka, H. Yoshikawa, T. Nishimura, K. Ozaki, I. Narama, M. Kuwajima, Mitochondrial abnormalities in a murine model of primary carnitine deficiency. Systemic pathology and trial of replacement therapy, Eur. Neurol. 38(1997) 302-309.
10. K. Yokogawa, M. Yonekawa, I. Tamai, R. Ohashi, Y. Tatsumi, Y. Higashi, M. Nomura, N. Hashimoto, H. Nikaido, J. Hayakawa, J. Nezu, A. Oku, M. Shimane, K. Miyamoto, K. Tsuji, Loss of wild-type carrier-mediated L-carnitine transport activity in hepatocytes of juvenile visceral steatosis mice, Hepatology 30 (1999) 997-1001.
11. M. Horiuchi, K. Kobayashi, S. Yamaguchi, N. Shimizu, T. Koizumi, H. Nikaido, J. Hayakawa, M. Kuwajima, T. Saheki, Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system, Biochim. Biophys. Acta. 1226 (1994) 25-30.
12. N. Hashimoto, F. Suzuki, I. Tamai, H. Nikaido, M. Kuwajima, J.I. Hayakawa, A. Tsuji, Gene-dose effect on carnitine transport activity in embryonic fibroblasts of JVS mice as a model of human carnitine transporter deficiency, Biochem. Pharmacol. 55 (1998) 1729-1732.
13. M. Horiuchi, K. Kobayashi, N. Asaka, T. Saheki, Secondary abnormality of carnitine biosynthesis results from carnitine reabsorptional system defect in juvenile visceral steatosis mice, Biochim. Biophys. Acta 1362 (1998) 263-268.
14. K.M. Lu, H. Nishimori, Y. Nakamura, K. Shima, M. Kuwajima, A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse, Biochem. Biophys. Res. Commun. 252 (1998) 590-594.
15. C.L. Hoppel, Determination of carnitine, in: F.A. Hommes (Ed.), Techniques in Diagnostic Human Biochemical Genetics, Wiley-Liss, New York, 1991, pp. 309-326.
16. O.H. Lowry, N.J. Rosebrough, A.L. Farr, R.J. Randall, Protein measurement with the Folin phenol reagent, J. Biol. Chem. 193 (1951) 265-275.
17. F. Scaglia, Y. Wang, R.H. Singh, P.P. Dembure, M. Pasquali, P.M. Fernhoff, N. Longo, Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency, Genet. Med. 1 (1998) 34-39.
18. J. Vockley, P. Rinaldo, M.J. Bennett, D. Matern, G.D. Vladutiu, Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways, Mol. Genet. Metab. 71 (2000) 10-18.
19. Y. Zhu, M.C. Jong, K.A. Frazer, E. Gong, R.M. Krauss, J.F. Cheng, D. Boffelli, E.M. Rubin, Genomic interval engineering of mice identifies a novel modulator of triglyceride production, Proc. Natl. Acad. Sci. USA 97 (2000) 1137-1142.
20. I. Tamai, H. Yabuuchi, J. Nezu, Y. Sai, A. Oku, M. Shimane, A. Tsuji, Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1, FEBS Lett. 419 (1997) 107-111.
21. R. Pons, P. Cavadini, S. Baratta, F. Invernizzi, E. Lamantea, B. Garavaglia, F. Taroni, Clinical and molecular heterogeneity in very long-chain acyl-coenzyme A dehydrogenase deficiency, Pediatr. Neurol. 22 (2000) 98-105.
22. R. Parini, F. Menni, B. Garavaglia, F. Fesslova, D. Melotti, M.L. Massone, E. Lamantea, M. Rimoldi, P. Vizziello, R. Gatti, Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl coenzyme A dehydrogenase deficiency, Eur. J. Pediatr. 157 (1998) 992-995.
23. K.M. Dipple, E.R.B. McCabe, Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics, Am. J. Hum. Genet. 66 (2000) 1729-1735.
24. K.M. Dipple, E.R.B. McCabe, Modifier genes convert "simple" Mendelian disorders to complex traits, Mol. Genet. Metab. 71 (2000) 43-50.
25. K.M. Dipple, J.K. Phelan, E.R.B. McCabe, Consequences of complexity within biological networks: robustness and health, or vulnerability and disease, Mol. Genet. Metab. 74 (2001) 45-50.
26. G.D. Vladutiu, M.J. Bennett, D. Smail, L.J. Wong, R.T. Taggart, H.B. Lindsley, A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene, Mol. Genet. Metab. 70 (2000) 134-141.
27. B. Garavaglia, G. Uziel, F. Dworzak, F. Carrara, S. DiDonato, Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation, Neurology 41 (1991) 1691-1693.
28. A. Koizumi, J.I. Nozaki, T. Ohura, T. Kayo, Y. Wada, J.I. Nezu, R. Ohashi, I. Tamai, Y. Shoji, G. Takada, S. Kibira, T. Matsuishi, A. Tsuji, Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency, Hum. Mol. Genet. 8 (1999) 2247-2254.