A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor γ coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians

Diabetes

Volumn 52, Issue 3, 2003, Pages 895-898

  Muller, Yunhua Li ^a   Bogardus, Clifton ^a   Pedersen, Oluf ^b   Baier, Leslie ^a,c  

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

^b STENO DIABETES CENTER   (Denmark)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

PGC 1, peroxisome proliferator activated receptor coactivator 1; PPAR, peroxisome proliferator activated receptor

Indexed keywords

GLUCOSE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BODY MASS; CONTROLLED STUDY; DNA SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOTYPE; HUMAN; INDIAN; INSULIN RELEASE; LIPID METABOLISM; LIPID OXIDATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; OBESITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ADIPOCYTES; ADIPOSE TISSUE; ADULT; ALLELES; BLOOD GLUCOSE; BODY COMPOSITION; BODY MASS INDEX; CELL SIZE; DIABETES MELLITUS, TYPE 2; FEMALE; GENE FREQUENCY; GLYCINE; HUMANS; INDIANS, NORTH AMERICAN; INSULIN; LIPID PEROXIDATION; LONGITUDINAL STUDIES; MALE; MUTATION, MISSENSE; OBESITY; SEQUENCE ANALYSIS, DNA; SERINE; TRANSCRIPTION FACTORS;

EID: 0037340930     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.52.3.895     Document Type: Article

References (24)

1. Vega RB, Huss JM, Kelly DP: The coactivator PGC-1 cooperates with peroxisome proliferator-activated receptor α in transcriptional control of nuclear genes encoding mitochondrial fatty acid oxidation enzymes. Mol Cell Biol 20:5:1868-1876, 2000
2. Lemberger T, Desvergne B, Wahli W: Peroxisome proliferator-activated receptors: a nuclear receptor signaling pathway in lipid physiology. Annu Rev Cell Dev Biol 12:335-363, 1996
3. Nolte RT, Wisely GB, Westin S, Cobb JE, Lambert MH, Kurokawa R, Rosenfeld MG, Willson TM, Glass CK, Milburn MV: Ligand binding and co-activator assembly of the peroxisome proliferator-activated receptorgamma. Nature 395:137-143, 1998
4. Zhu Y, Qi C, Calandra C, Rao MS, Reddy JK: Cloning and identification of mouse steroid receptor coactivator-1 (mSRC-1), as a coactivator of peroxisome proliferator-activated receptor γ. Gene Expr 6:185-195, 1996
5. Esterbauer H, Oberkofler H, Krempler F, Patsch W: Human peroxisome proliferator activated-receptor gamma coactivator 1 (PPARGC1) gene: cDNA sequence, genomic organization, chromosomal localization, and tissue expression. Genomics 62:98-102, 1999
6. Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM: Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1. Cell 98:115-124, 1999
7. Lin J, Wu H, Tarr PT, Zhang C, Wu Z, Boss O, Michael LF, Puigserver P, Isotani E, Olson E, Lowell BB, Bassel-Duby R, Spiegelman BM: Transcripfibres. Nature 418:797-801, 2002
8. Michael LF, Wu Z, Cheatham RB, Puigserver P, Adelmant G, Lehman JJ, Kelly DP, Spiegelman BM: Restoration of insulin sensitive glucose transporter (GLUT4) gene expression in muscle cells by the transcriptional coactivator PGC-1. Proc Natl Acad Sci U S A 98:3820-3825, 2001
9. Yoon JC, Puigserver P, Chen G, Donovan J, Wu Z, Rhee J, Adelmant G, Stafford J, Kahn CR, Granner DK, Newgard CB, Spiegelman BM: Control of hepatic gluconeogenesis through the transcriptional coactivator PGC-1. Nature 413:131-138, 2001
10. Pratley RE, Thompson DB, Prochazka M, Baier L, Mott D, Ravussin E, Sakul H, Ehm MG, Burns DK, Foroud T, Garvey WT, Hanson RL, Knowler WC, Bennett PH, Bogardus C: An autosomal genomic scan for loci linked to pre-diabetic phenotypes in Pima Indians. J Clin Invest 101:1757-1764, 1998
11. Arya R, Blangero J, Almasy L, O'Connell P, Stern M, Duggirala R: A major locus for body mass index (BMI) on chromosome 4p in Mexican Americans (Abstract). Obes Res 9:70S, 2001
12. Ek J, Andersen G, Urhammer SA, Gæede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O: Mutation analysis of peroxisome proliferator-activated receptor-γ coactivator-1 (PGC-1) and relationships of identified amino acid polymorphisms to type II diabetes mellitus. Diabetalogia 44:112:2220-2226, 2001
13. Andersen G, Hansen T, Gharani N, Frayling TM, Owen KR, Sampson M, Ellard S, Walker M, Hitman GA, Hattersley AT, McCarthy MI, Pedersen O: A common Gly482Ser polymorphism of PGC-1 is associated with type 2 diabetes mellitus in two European populations (Abstract). Diabetes 51 (Suppl. 2):A49, 2002
14. Esterbauer H, Oberkofler H, Linnemayr V, Iglseder B, Hedegger M, Wolfsgruber P, Paulweber B, Fastner G, Krempler F, Patsch W: Peroxisome proliferator-activated receptor γ coactivator-1 gene locus: associations with obesity indices in middle-aged women. Diabetes 51:1281-1286, 2002
15. Fan Z, Pollin TI, Gong D, Garant MJ, McLenithan JC, Spiegelman BM, Poehlman ET, Shuldiner A: Association of an intronic variant of peroxisome proliferator-activated receptor-g coactivator-1 (PGC-1) with decreased body mass index (BMI) in Caucasians and interaction with Trp64Arg of the b-3 adrenergic receptor. Am J Hum Genet 67 (Suppl. 2):234, 2000
16. Lacquemant C, Chikri M, Boutin P, Samson C, Froguel P: No association between the G482S polymorphism of the proliferator-activated receptor-γ coactivator-1 (PGC-1) gene and type II diabetes in French Caucasians (Letter). Diabetologia 45:602-603, 2002
17. Knowler WC, Bennett PH, Hamman RF, Miller M: Diabetes incidence and prevalence in Pima Indians: a 19-fold greater incidence than in Rochester, Minnesota. Am J Epidemiology 108:497-505, 1978
18. World Health Organization: Diabetes Mellitus: Report of a WHO Study Group. Geneva, World Health Org., 1985 (Tech. Rep. Ser., no. 727)
19. Norman RA, Tataranni PA, Pratley R, Thompson DB, Hanson RL, Prochazka M, Baier L, Ehm MG, Sakul H, Foroud T, Garvey WT, Burns D, Knowler WC, Bennett PH, Bogardus C, Ravussin E: Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians. Am J Hum Genet 62:659-668, 1998
20. Lillioja S, Mott DM, Spraul M, Ferraro R, Foley JE, Ravussin E, Knowler WC, Bennett PH, Bogardus C: Insulin resistance and insulin secretory dysfunction as precursors of non-insulin-dependent diabetes mellitus: prospective studies of Pink Indians. N Engl J Med 329:1988-1992, 1993
21. Lillioja S, Bogardus C: Obesity and insulin resistance: lessons learned from the Pima Indians. Diabetes Metab Rev 4:517-540, 1988
22. Weyer C, Foley JE, Bogardus C, Tataranni PA, Pratley RE: Enlarged subcutaneous abdominal adipocyte size, but not obesity itself, predicts type 2 diabetes independent of insulin resistance. Diabetologia 43:1498-1506, 2000
23. Lee Y, Hirose H, Ohneda M, Johnson JH, McGarry JD, Unger RH: β-Cell lipotoxicity in the pathogenesis of non-insulin-dependent diabetes mellitus of obese rats: impairment in adipocyte-β-cell relationships. Proc Natl Acad Sci USA 91:10878-10882, 1994
24. Okuno A, Tamemoto H, Tobe K, Ueki K, Mori Y, Iwamoto K, Umesono K, Akanuma Y, Fujiwara T, Horikoshi H, Yazaki Y, Kadowaki T: Troglitszone increases the number of small adipocytes without the change of white adipose tissue mass in obese Zucker rats. J Clin Invest 101:6:1354-1361, 1998