Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes

Journal of Clinical Investigation

Volumn 102, Issue 7, 1998, Pages 1345-1351

  Argyropoulos, George ^a,b   Brown, Angela M ^a   Willi, Steven M ^b   Zhu, Jianguo ^a   He, Yufang ^c   Reitman, Marc ^c   Gevao, Sahr M ^d   Spruill, Ida ^a   Garveyz, W Timothy ^a  

^a RALPH H JOHNSON VA MEDICAL CENTER   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d UNIVERSITY OF SIERRA LEONE   (Sierra Leone)

Author keywords

African American; Fat oxidation; Obesity; Respiratory quotient; UCP3 mutation

Indexed keywords

DNA; RNA; UNCOUPLING PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; DIABETOGENESIS; DNA SEQUENCE; ETHNIC GROUP; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; LIPID OXIDATION; MALE; NEGRO; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; OBESITY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RESPIRATORY QUOTIENT;

EID: 0032189845     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI4115     Document Type: Article

References (35)

1. Boss, O., S. Samec, A. Paolini-Giacobino, C. Rossier, A. Dulloo, J. Seydoux, P. Muzzin, and J.-P. Giacobino. 1997. Uncoupling protein-3; a new member of the mitochondrial carrier family with tissue-specific expression. FEBS. 408:39-42.
2. Gong, D-W., Y. He, M. Karas, and M. Reitman. 1997. Uncoupling protein-3 is a mediator of thermogenesis regulated by thyroid hormone, β3-adrenergic agonists and leptin. J. Biol. Chem. 272:24129-24131.
3. Vidal-Puig, A., G. Solanes, D. Grujic, J.S. Flier, and B.B. Lowell. 1997. UCP3: an uncoupling protein homologue expressed preferentially and abundantly in skeletal muscle and brown adipose tissue. Biochem. Biophys. Res. Commun. 235:79-82.
4. Silva, J.E., and R. Rabelo. 1997. Regulation of the uncoupling protein gene expression. Eur. J. Endocrinol. 136:251-264.
5. Cassard, A.-M., F. Bouillaud, M-G. Mattei, E. Henz, S. Raimbault, M. Thomas, and D. Ricquier. 1990. Human uncoupling protein gene: structure, comparison with rat gene and assignment to the long arm of chromosome 4. J. Cell. Biochem. 43:255-264.
6. Fleury, C., M. Ncverova, S. Collins, S. Raimbault, O. Champigny, C. Levi-Meyrueis, F. Bouillaud, M.F. Seldin, R.S. Surwit, D. Ricquier, et al. 1997. Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia. Nat. Genet. 15:269-272.
7. Solanes, G., A. Vidal-Puig, D. Grujic, J.S. Flier, and B.B. Lowell. 1997. The human uncoupling protein-3 gene: genomic structure, chromosomal localization and genetic basis for short and long form transcripts. J. Biol. Chem. 272: 25433-25436.
8. Argyropoulos, G., A.M. Brown, R. Peterson, D.K. Watson, and W.T. Garvey. 1998. Structure and organization of the human uncoupling protein 2 gene and identification of a common biallelic variant in Caucasians and African-Americans. Diabetes. 47:658-687.
9. Larkin, S., E. Mull, W. Miao, R. Pittner, K. Albrandt, C. Moore, A. Young, M. Denaro, and K. Beaumont. 1997. Regulation of the third member of the uncoupling protein family, UCP3, by cold and thyroid hormone. Biochem. Biophys. Res. Commun. 240:222-227.
10. Matsuda, J., K. Hosoda, H. Itoh, C. Son, K. Doi, T. Tanaka, Y. Fukunaga, G. Inoue, H. Nishimura, Y. Yoshimasa, et al. 1997. Cloning of rat uncoupling protein-3 and uncoupling protein-2 cDNAs: their gene expression in rats fed high-fat diet. FEBS. 418:200-204.
11. Surwit, R.S., S. Wang, A.E. Petro, D. Sanchis, S. Raimbault, D. Ricquier, and S. Collins. 1998. Diet-induced changes in uncoupling proteins in obesity-prone and obesity-resistant strains of mice. Proc. Natl. Acad. Sci. USA. 95: 4061-4065.
12. Bouchard, C., L. Perusse, Y.C. Chagnon, C. Warden, and D. Ricquier. 1997. Linkage between markers in the vicinity of the uncoupling protein 2 gene and resting metabolic rate in humans. Hum. Mol. Genet. 6:1887-1889.
13. Zhang, Y., R. Proenca, M. Maffei, M. Barone, L. Leopold, and J.M. Friedman. 1994. Positional cloning of the mouse obese gene and its human homologue. Nature. 372:425-132.
14. Friedman, J.M. 1997. The alphabet of weight control. Nature. 385:119-120.
15. Montague, C.T., I.S. Farooqi, J.P Whitehead, M.A. Soos, H. Rau, N.J. Wareham, C.P. Sewter, J.E. Digby, S.N. Mohammed, J.A. Hurst, C.H. Cheetham, A.R. Earley, A.M. Barnett, J.B. Prins, and S. O'Rahilly. 1997. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature. 387:903-908.
16. Strobe, A., T. Issad, L. Camoin, M. Ozata, and A.D. Strosberg. 1998. A leptin missense mutation associated with hypogonadism and morbid obesity. Nat. Genet. 18:213-215.
17. Jackson, R.S., J.W. Creemers, S. Ohagi, M.L. Raffin-Sanson, L. Sanders. C.T. Montague, J.C. Hutton, and S. O'Rahilly. 1997. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat. Genet. 16:303-306.
18. National Diabetes Data Group. 1979. Classification and diagnosis of diabetes and other categories of glucose intolerance. Diabetes. 28:1039-1057.
19. Peters, A.L., M.B. Davidson, D.L. Schriger, and V. Hasselblad. 1996. A clinical approach for the diagnosis of diabetes mellitus: an analysis using glycosylated hemoglobin levels. Meta-analysis research group on the diagnosis of diabetes using glycated hemoglobin levels. JAMA. 276:1246-1252.
20. Kennedy, A., T.W. Gettys, P. Watson, P. Wallace, E. Ganaway, Q. Pan, and W.T. Garvey. 1997. The metabolic significance of leptin in humans: gender-based differences in relationship to adiposity, insulin sensitivity and energy expenditure. J. Clin. Endocrinol. Metab. 82:1293-1300.
21. Urhammer, S.A., L.T. Dalgaard, T.I.A. Sorensen, A. Tybjaerg-Hansen, S.M. Echwald, T. Andersen, J.O. Clausen, and O. Pedersen. 1998. Organization of the coding exons and mutational screening of the uncoupling protein 3 gene in subjects with juvenile-onset obesity. Diabetologia. 41:241-244.
22. Jezek, P., D.E. Orosz, M. Modriansky, and K.D. Garlid. 1994. Transport of anions and protons by mitochondrial uncoupling protein and its regulation by nucleotides and fatty acids. A new look at old hypotheses. J. Biol. Chem. 269:26184-26190.
23. + transport. J. Biol. Chem. 269:7435-7438.
24. + transport by uncoupling protein (UCP-1) is dependent on a histidine pair, absent in UCP-2 and UCP-3. Biochemistry. 37:3-8.
25. Ravussin, E. 1995. Metabolic differences and the development of obesity. Metabolism. 44:12-14.
26. Jakicic, J.M., and R.R. Wing. 1998. Differences in resting energy expenditure in African-American vs Caucasian overweight females. Int. J. Obes. 22: 236-242.
27. Weigle, D.S., L.E. Selfridge, M. W. Schwartz, R.J. Seeley, D.E. Cummings, P.J. Havel, J.L. Kuijper, and H. BeltrandelRio. 1998. Elevated free fatty acids induce uncoupling prolein 3 expression in muscle. Diabetes. 47:298-302.
28. Chakraborty, R., M.I. Kamboh, M. Nwankwo, and R.E. Ferrell. 1992. Caucasian genes in American blacks: new data. Am. J. Hum. Genet. 50:145-155.
29. Pollitzer, W.S., E. Boyle, Jr., J. Cornoni, and K.K. Namboodiri. 1970. Physical anthropology of the Negroes of Charleston, S.C. Hum. Biol. 42:265-279.
30. Eberhardt, M.S., D.T. Lackland, F.C. Wheeler, R.R. German, S.M. Teutsch. 1994. Is race related to glycemic control? An assessment of glycosylated hemoglobin in two South Carolina communities. J. Clin. Epidemiol. 47: 1181-1189.
31. Millet, L., H. Vidal, F. Andreelli, D. Larrouy, J.P. Riou, D. Ricquier, M. Laville, and D. Langin. 1997. Increased uncoupling protein-2 and -3 mRNA expression during fasting in obese and lean humans. J. Clin. Invest. 100:2665-2670.
32. Modriansky, M., D. Murdza-Inglis, H.V. Patel, K.B. Freeman, and K.D. Garlid. 1997. Identification by site-directed mutagenesis of three arginines in uncoupling protein that are essential for nucleotide binding and inhibition. J. Biol. Chem. 272:24759-24762.
33. Winkler, E., E. Wachtel, and M. Klingenberg. 1997. Identification of the pH sensor for nucleotide binding in the uncoupling protein from adipose tissue. Biochemistry. 36:148-155.
34. Solovyev, V.V., and A.A. Salamov. 1994. Predicting α-helix and β-strand segments of globular proteins. CABIOS. 10:661-669.
35. Samec, S., Seydoux, J., and A.G. Dulloo. 1998. Role of UCP homologues in skeletal muscles and brown adipose tissue: mediators of thermogenesis or regulators of lipids as fuel substrate? FASEB. 12:715-724.