An exonic peroxisome proliferator-activated receptor-γ coactivator-1α variation may mediate the resting energy expenditure through a potential regulatory role on important gene expression in this pathway

Journal of Nutrigenetics and Nutrigenomics

Volumn 5, Issue 2, 2012, Pages 59-71

  Mirzaei, Khadijeh ^a,b   Hossein Nezhad, Arash ^a   Emamgholipour, Solaleh ^a   Ansar, Hasti ^a   Khosrofar, Mahtab ^a   Tootee, Ali ^a   Alatab, Soudabeh ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Gene expression; MAPK; PPARGC1A variation; Resting energy expenditure; UCP2

Indexed keywords

INSULIN; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MITOGEN ACTIVATED PROTEIN KINASE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA; UNCOUPLING PROTEIN 2;

ADULT; ARTICLE; BODY MASS; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; ENERGY EXPENDITURE; EXON; FEMALE; GENE EXPRESSION REGULATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; INSULIN BLOOD LEVEL; LEAN BODY WEIGHT; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; OBESITY; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BASE SEQUENCE; BODY COMPOSITION; CASE-CONTROL STUDIES; DNA PRIMERS; ENERGY METABOLISM; EXONS; FEMALE; GENE EXPRESSION REGULATION; HEAT-SHOCK PROTEINS; HUMANS; MALE; MIDDLE AGED; OBESITY; REAL-TIME POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 84861609399     PISSN: 16616499     EISSN: 16616758     Source Type: Journal    
DOI: 10.1159/000337352     Document Type: Article

References (51)

1. Cantó C, Auwerx J: PGC-1alpha, SIRT1 and AMPK, an energy sensing network that controls energy expenditure. Curr Opin Lipidol 2009; 20: 98-105.
2. Liang H, Ward W: PGC-1alpha: a key regulator of energy metabolism. Adv Physiol Educ 2006; 30: 145-151.
3. Barbosa M, Soares S, Novak C, Sinclair D, Levine J, Aksoy P, Chini E: The enzyme CD38 (a NAD glycohydrolase, EC 3.2.2.5) is necessary for the development of diet-induced obesity. FASEB J 2007; 21: 3629-3639.
4. Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla R, Spiegelman B: Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC- 1. Cell 1999; 98: 115-124.
5. Esterbauer H, Oberkofler H, Krempler F, Patsch W: Human peroxisome proliferator activated receptor gamma coactivator (PPARGC1) gene: cDNA sequence, genomic organization, chromosomal localization, and tissue expression. Genomics 1999; 62: 98-102.
6. Nitz I, Ewert A, Klapper M, Döring F: Analysis of PGC-1alpha variants Gly482Ser and Thr612Met concerning their PPARgamma2-coactivation function. Biochem Biophys Res Commun 2007; 353: 481-486.
7. Soyal S, Krempler F, Oberkofler H, Patsch W: PGC-1alpha: a potent transcriptional cofactor involved in the pathogenesis of type 2 diabetes. Diabetologia 2006; 49: 1477-1488.
8. Stone S, Abkevich V, Hunt S, Gutin A, Russell D, Neff C, Riley R, Frech G, Hensel C, Jammulapati S, Potter J, Sexton D, Tran T, Gibbs D, Iliev D, Gress R, Bloomquist B, Amatruda J, Rae P, Adams T, Skolnick M, Shattuck D: A major predisposition locus for severe obesity, at 4p15-p14. Am J Hum Genet 2002; 70: 1459-1468.
9. Pérusse L, Rice T, Chagnon Y, Després J, Lemieux S, Roy S, Lacaille M, Ho-Kim M, Chagnon M, Province M, Rao D, Bouchard C: A genome-wide scan for abdominal fat assessed by computed tomography in the Québec Family Study. Diabetes Metab 2001; 50: 614-621.
10. Allayee H, de Bruin T, Michelle Dominguez K, Cheng L, Ipp E, Cantor R, Krass K, Keulen E, Aouizerat B, Lusis A, Rotter J: Genome scan for blood pressure in Dutch dyslipidemic families reveals linkage to a locus on chromosome 4p. Hypertension 2001; 38: 773-778.
11. Erkens T, Bilek K, Van Zeveren A, Peelman L: Two new splice variants in porcine PPARGC1A. BMC Res Notes 2008; 1: 138.
12. Muller Y, Bogardus C, Pedersen O, Baier L: A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor gamma coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians. Diabetes 2003; 52: 895-898.
13. Bhat A, Koul A, Rai E, Sharma S, Dhar M, Bamezai R: PGC-1alpha Thr394Thr and Gly482Ser variants are significantly associated with T2DM in two North Indian populations: a replicate case-control study. Hum Genet 2007; 121: 609-614.
14. Choi Y, Hong J, Lim S, Ko K, Pak Y: Impaired coactivator activity of the Gly482 variant of peroxisome proliferatoractivated receptor gamma coactivator-1alpha (PGC-1alpha) on mitochondrial transcription factor A (Tfam) promoter. Biochem Biophys Res Commun 2006; 344: 708-712.
15. Ling C, Poulsen P, Carlsson E, Ridderstrale M, Almgren P, Wojtaszewski J, Beck-Nielsen H, Groop L, Vaag A: Multiple environmental and genetic factors influence skeletal muscle PGC-1alpha and PGC-1beta gene expression in twins. J Clin Invest 2004; 114: 1518-1526.
16. Puigserver P, Rhee J, Lin J, Wu Z, Yoon J, Zhang C, Krauss S, Mootha V, Lowell B, Spiegelman B: Cytokine stimulation of energy expenditure through p38 MAP kinase activation of PPARgamma coactivator-1. Mol Cell 2001; 8: 971-982.
17. Knutti D, Kressler D, Kralli A: Regulation of the transcriptional coactivator PGC-1 via MAPK-sensitive interaction with a repressor. Proc Natl Acad Sci USA 2001; 98: 9713-9718.
18. Oberkofler H, Esterbauer H, Linnemayr V, Strosberg A, Krempler F, Patsch W: Peroxisome proliferator-activated receptor (PPAR) gamma coactivator-1 recruitment regulates PPAR subtype specificity. J Biol Chem 2002; 277: 16750-16757.
19. Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults: Executive Summary of The Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA 2001; 285: 2486-2497.
20. Matthews D, Hosker J, Rudenski A, Naylor B, Treacher D, Turner R: Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985; 28: 412-419.
21. Katz A, Nambi S, Mather K, Baron A, Follmann D, Sullivan G, Quon M: Quantitative insulin sensitivity check index: a simple, accurate method for assessing insulin sensitivity in humans. J Clin Endocrinol Metab 2000; 85: 2402-2410.
22. Mirzaei K, Hossein-Nezhad A, Chamari M, Shahbazi S: Evidence of a role of ANGPTL6 in resting metabolic rate and its potential application in treatment of obesity. Minerva Endocrinol 2011; 36: 13-21.
23. Mirzaei K, Hossein-Nezhad A, Aslani S, Emamgholipour S, Karimi M, Keshavarz S: Energy expenditure regulation via macrophage migration inhibitory factor in obesity and in vitro anti-macrophage migration inhibitory factor effect of Alpinia officinarum hance extraction. Endocr Pract 2012; 18: 39-48.
24. Liang H, Ward W: PGC-1alpha: a key regulator of energy metabolism. Adv Physiol Educ 2006; 30: 145-151.
25. Liu C, Lin J: PGC-1 coactivators in the control of energy metabolism. Acta Biochim Biophys Sin 2011; 43: 248-257.
26. http://www.ncbi.nlm.nih.gov/projects/SNP/snp-ref.cgi?rs=17574213 (last accessed in May 2011).
27. http://www.ncbi.nlm.nih.gov/projects/SNP/snp-ref.cgi?rs=8192678 (last accessed in May 2011).
28. http://www.ncbi.nlm.nih.gov/projects/SNP/snp-ref.cgi?rs=3755863 (last accessed in May 2011).
29. Arya R, Duggirala R, Jenkinson C, Almasy L, Blangero J, O'Connell P, Stern M: Evidence of a novel quantitative-trait locus for obesity on chromosome 4p in Mexican Americans. Am J Hum Genet 2004; 74: 272-282.
30. Povel C, Feskens E, Imholz S, Blaak E, Boer J, Dollé M: Glucose levels and genetic variants across transcriptional pathways: interaction effects with BMI. Int J Obes 2010; 34: 840-845.
31. Brito E, Vimaleswaran K, Brage S, Andersen L, Sardinha L, Wareham N, Ekelund U, Loos R, Franks P: PPARGC1A sequence variation and cardiovascular risk-factor levels: a study of the main genetic effects and gene x environment interactions in children from the European Youth Heart Study. Diabetologia 2009; 52: 609-613.
32. Sookoian S, García S, Porto P, Dieuzeide G, González C, Pirola C: Peroxisome proliferator-activated receptor gamma and its coactivator-1 alpha may be associated with features of the metabolic syndrome in adolescents. J Mol Endocrinol 2005; 35: 373-380.
33. Ek J, Andersen G, Urhammer S, Gaede P, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O: Mutation analysis of peroxisome proliferator-activated receptor-gamma coactivator-1 (PGC-1) and relationships of identified amino acid polymorphisms to type II diabetes mellitus. Diabetologia 2001; 44: 2220-2226.
34. Hara K, Tobe K, Okada T, Kadowaki H, Akanuma Y, Ito C, Kimura S, Kadowaki T: A genetic variation in the PGC-1 gene could confer insulin resistance and susceptibility to type II diabetes. Diabetologia 2002; 45: 740-743.
35. Zhang S, Lu W, Yan L, Wu M, Xu M, Chen L, Cheng H: Association between peroxisome proliferator-activated receptor- gamma coactivator-1alpha gene polymorphisms and type 2 diabetes in southern Chinese population: role of altered interaction with myocyte enhancer factor 2C. Chin Med J (Engl) 2007; 120: 1878-1885.
36. Zhu S, Liu Y, Wang X, Wu X, Zhu X, Li J, Ma J, Gu H, Liu Y: Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han Chinese population. Diabetes Res Clin Pract 2009; 86: 168-172.
37. Soyal S, Krempler F, Oberkofler H, Patsch W: PGC-1alpha: a potent transcriptional cofactor involved in the pathogenesis of type 2 diabetes. Diabetologia 2006; 49: 1477-1488.
38. Patti M, Butte A, Crunkhorn S, Cusi K, Berria R, Kashyap S, Miyazaki Y, Kohane I, Costello M, Saccone R, Landaker E, Goldfine A, Mun E, DeFronzo R, Finlayson J, Kahn C, Mandarino L: Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: potential role of PGC1 and NRF1. Proc Natl Acad Sci USA 2003; 100: 8466-8471.
39. Puigserver P, Wu Z, Park C, Graves R, Wright M, Spiegelman B: A cold-inducible coactivator of nuclear receptors linked to adaptive thermogenesis. Cell 1998; 92: 829-839.
40. Vega R, Huss J, Kelly D: The coactivator PGC-1 cooperates with peroxisome proliferator-activated receptor alpha in transcriptional control of nuclear genes encoding mitochondrial fatty acid oxidation enzymes. Mol Cell Biol 2000; 20: 1868-1876.
41. Souza S, Alinauskas K, McCrea E, Goodyer C, Antel J: Differential susceptibility of human CNS-derived cell populations to TNF-dependent and independent immune-mediated injury. J Neurosci 1995; 15: 72-93.
42. Schreiber S, Emter R, Hock M, Knutti D, Cardenas J, Podvinec M, Oakeley E, Kralli A: The estrogen-related receptor alpha (ERRalpha) functions in PPARgamma coactivator 1alpha (PGC-1alpha)-induced mitochondrial biogenesis. Proc Natl Acad Sci USA 2004; 101: 6472-6477.
43. Monsalve M, Wu Z, Adelmant G, Puigserver P, Fan M, Spiegelman B: Direct coupling of transcription and mRNA processing through the thermogenic coactivator PGC-1. Mol Cell 2000; 6: 307-316.
44. Larrouy D, Vidal H, Andreelli F, Laville M, Langin D: Cloning and mRNA tissue distribution of human PPARgamma coactivator-1. Int J Obes Relat Metab Disord 1999; 23: 1327-1332.
45. Choi Y, Hong J, Lim S, Ko K, Pak Y: Impaired coactivator activity of the Gly482 variant of peroxisome proliferatoractivated receptor gamma coactivator-1alpha (PGC-1alpha) on mitochondrial transcription factor A (Tfam) promoter. Biochem Biophys Res Commun 2006; 344: 708-712.
46. Barbe P, Larrouy D, Boulanger C, Chevillotte E, Viguerie N, Thalamas C, Oliva Trastoy M, Roques M, Vidal H, Langin D: Triiodothyronine-mediated up-regulation of UCP2 and UCP3 mRNA expression in human skeletal muscle without coordinated induction of mitochondrial respiratory chain genes. FASEB J 2001; 15: 13-15.
47. Wilson-Fritch L, Nicoloro S, Chouinard M, Lazar M, Chui P, Leszyk J, Straubhaar J, Czech M, Corvera S: Mitochondrial remodeling in adipose tissue associated with obesity and treatment with rosiglitazone. J Clin Invest 2004; 114: 1281-1289.
48. Akimoto T, Pohnert S, Li P, Zhang M, Gumbs C, Rosenberg P, Williams R, Yan Z: Exercise stimulates Pgc-1alpha transcription in skeletal muscle through activation of the p38 MAPK pathway. J Biol Chem 2005; 280: 19587-19593.
49. Handschin C, Rhee J, Lin J, Tarr P, Spiegelman B: An autoregulatory loop controls peroxisome proliferator-activated receptor gamma coactivator 1alpha expression in muscle. Proc Natl Acad Sci USA 2003; 100: 7111-7116.
50. Zhao M, New L, Kravchenko V, Kato Y, Gram H, di Padova F, Olson E, Ulevitch R, Han J: Regulation of the MEF2 family of transcription factors by p38. Mol Cell Biol 1999; 19: 21-30.
51. Cao W, Daniel K, Robidoux J, Puigserver P, Medvedev A, Bai X, Floering L, Spiegelman B, Collins S: p38 mitogenactivated protein kinase is the central regulator of cyclic AMP-dependent transcription of the brown fat uncoupling protein 1 gene. Mol Cell Biol 2004; 24: 3057-3067.