Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes

New England Journal of Medicine

Volumn 370, Issue 24, 2014, Pages 2307-2315

  Albert, Jessica S ^a   Yerges Armstrong, Laura M ^a   Horenstein, Richard B ^a   Pollin, Toni I ^a   Sreenivasan, Urmila T ^a   Chai, Sumbul ^a   Blaner, William S ^c   Snitker, Soren ^a   O'Connell, Jeffrey R ^a   Gong, Da Wei ^a,b   Breyer III, Richard J ^b   Ryan, Alice S ^b   McLenithan, John C ^a   Shuldiner, Alan R ^a,b   Sztalryd, Carole ^a,b   Damcott, Coleen M ^a  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b BALTIMORE VA MEDICAL CENTER   (United States)

^c Howard Hughes Medical Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HORMONE SENSITIVE LIPASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; TRIACYLGLYCEROL;

ABDOMINAL FAT ASPIRATION BIOPSY; ADIPOCYTE; ADIPOGENESIS; ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; CYTOKINE RELEASE; DISEASE PREDISPOSITION; DOWN REGULATION; DOWNSTREAM PROCESSING; DYSLIPIDEMIA; ENZYME ACTIVITY; ENZYME REGULATION; EXON; FATTY LIVER; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; GLUCOSE HOMEOSTASIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYDROLYSIS; INFLAMMATION; INSULIN RESISTANCE; INSULIN SENSITIVITY; LIPE GENE; LIPID HOMEOSTASIS; LIPID METABOLISM; LIPOLYSIS; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRIORITY JOURNAL; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; AGED; AMISH; DIABETES MELLITUS, TYPE 2; DYSLIPIDEMIAS; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INSULIN RESISTANCE; LIPOLYSIS; MALE; METABOLIC NETWORKS AND PATHWAYS; MIDDLE AGED; PEDIGREE; STEROL ESTERASE;

EID: 84902159389     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1315496     Document Type: Article

References (24)

1. Frayn KN. Adipose tissue as a buffer for daily lipid flux. Diabetologia 2002;45:1201-10.
2. Haemmerle G, Zimmermann R, Zechner R. Letting lipids go: hormone-sensitive lipase. Curr Opin Lipidol 2003;14:289-97.
3. Beiler K. Fisher family history: descendants and history of Christian Fisher (1757-1838). Ronks, PA: Eby's Quality Printing, 1988.
4. Zimmermann R, Strauss JG, Haemmerle G, et al. Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. Science 2004;306:1383-6.
5. Kolditz CI, Langin D. Adipose tissue lipolysis. Curr Opin Clin Nutr Metab Care 2010;13:377-81.
6. Berg AH, Scherer PE. Adipose tissue, inflammation, and cardiovascular disease. Circ Res 2005;96:939-49.
7. Rubio-Cabezas O, Puri V, Murano I, et al. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med 2009;1:280-7.
8. Gandotra S, Le Dour C, Bottomley W, et al. Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med 2011;364:740-8.
9. Kershaw EE, Schupp M, Guan HP, Gardner NP, Lazar MA, Flier JS. PPARgamma regulates adipose triglyceride lipase in adipocytes in vitro and in vivo. Am J Physiol Endocrinol Metab 2007;293(6):E1736-E1745.
10. Fischer J, Lefèvre C, Morava E, et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007;39:28-30.
11. Osuga J, Ishibashi S, Oka T, et al. Targeted disruption of hormone-sensitive lipase results in male sterility and adipocyte hypertrophy, but not in obesity. Proc Natl Acad Sci U S A 2000;97:787-92.
12. Wang SP, Laurin N, Himms-Hagen J, et al. The adipose tissue phenotype of hormone-sensitive lipase deficiency in mice. Obes Res 2001;9:119-28.
13. Haemmerle G, Zimmermann R, Hayn M, et al. Hormone-sensitive lipase deficiency in mice causes diglyceride accumulation in adipose tissue, muscle, and testis. J Biol Chem 2002;277:4806-15.
14. Grober J, Lucas S, Sörhede-Winzell M, et al. Hormone-sensitive lipase is a cholesterol esterase of the intestinal mucosa. J Biol Chem 2003;278:6510-5.
15. Toh SY, Gong J, Du G, et al. Up-regulation of mitochondrial activity and acquirement of brown adipose tissue-like property in the white adipose tissue of fsp27 deficient mice. PLoS One 2008;3(8):e2890.
16. Tansey JT, Sztalryd C, Gruia-Gray J, et al. Perilipin ablation results in a lean mouse with aberrant adipocyte lipolysis, enhanced leptin production, and resistance to diet-induced obesity. Proc Natl Acad Sci U S A 2001;98:6494-9.
17. Semple RK, Chatterjee VK, O'Rahilly S. PPAR gamma and human metabolic disease. J Clin Invest 2006;116:581-9.
18. Gray SL, Dalla Nora E, Vidal-Puig AJ. Mouse models of PPAR-gamma deficiency: dissecting PPAR-gamma's role in metabolic homoeostasis. Biochem Soc Trans 2005;33:1053-8.
19. Haemmerle G, Zimmermann R, Strauss JG, et al. Hormone-sensitive lipase deficiency in mice changes the plasma lipid profile by affecting the tissuespecific expression pattern of lipoprotein lipase in adipose tissue and muscle. J Biol Chem 2002;277:12946-52.
20. Harada K, Shen WJ, Patel S, et al. Resistance to high-fat diet-induced obesity and altered expression of adipose-specific genes in HSL-deficient mice. Am J Physiol Endocrinol Metab 2003;285(6):E1182-E1195.
21. Shen WJ, Yu Z, Patel S, Jue D, Liu LF, Kraemer FB. Hormone-sensitive lipase modulates adipose metabolism through PPARγ. Biochim Biophys Acta 2011;1811:9-16.
22. Ström K, Gundersen TE, Hansson O, et al. Hormone-sensitive lipase (HSL) is also a retinyl ester hydrolase: evidence from mice lacking HSL. FASEB J 2009;23:2307-16.
23. Haemmerle G, Moustafa T, Woelkart G, et al. ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1. Nat Med 2011;17:1076-85.
24. Rizos CV, Elisaf MS, Mikhailidis DP, Liberopoulos EN. How safe is the use of thiazolidinediones in clinical practice? Expert Opin Drug Saf 2009;8:15-32.