Human congenital perilipin deficiency and insulin resistance

Endocrine Development

Volumn 24, Issue , 2013, Pages 150-155

  Kozusko, Kristina ^a   Patel, Satish ^a   Savage, David B ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DEATH INDUCING DNA FRAGMENTATION FACTOR ALPHA LIKE EFFECTOR C PROTEIN; FAT DROPLET; INSULIN; PERILIPIN; PERILIPIN 1; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL DEATH; CONGENITAL PERILIPIN DEFICIENCY; DNA FRAGMENTATION; FAMILIAL PARTIAL LIPODYSTROPHY; HUMAN; HUMAN TISSUE; INSULIN RESISTANCE; LOSS OF FUNCTION MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; WHITE ADIPOSE TISSUE;

EID: 84880950546     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000342511     Document Type: Article

References (21)

1. Garg A: Lipodystrophies: Genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011; 96:3313-3325.
2. Garg A, Agarwal AK: Lipodystrophies: Disorders of adipose tissue biology. Biochim Biophys Acta 2009; 1791:507-513.
3. Frayn KF: Adipose tissue as a buffer for daily lipid flux. Diabetologia 2002;45:1201-1210.
4. Guo Y, Walther TC, Rao M, Stuurman N, Goshima G, Terayama K, et al: Functional genomic screen reveals genes involved in lipid-droplet formation and utilization. Nature 2008;453:657-661.
5. Farese RV Jr, Walther TC: Lipid droplets finally get a little R-E-S-P-E-C-T. Cell 2009;139:855-860.
6. Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, et al: Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med 2009;1:280-287.
7. Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, et al: Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med 2011;364:740-748.
8. Keller P, Petrie JT, De Rose P, Gerin I, Wright WS, Chiang S-H, et al: Fat-specific protein 27 regulates storage of triacylglycerol. J Biol Chem 2008;283: 14355-14365.
9. Puri V, Konda S, Ranjit S, Aouadi M, Chawla A, Chouinard M, et al: Fat-specific protein 27, a novel lipid droplet protein that enhances triglyceride storage. J Biol Chem 2007;282:34213-34218.
10. Nishino N, Tamori Y, Tateya S, Kawaguchi T, Shibakusa T, Mizunoya W, et al: FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. J Clin Invest 2008;118:2808-2821.
11. Toh SY, Gong J, Du G, Li JZ, Yang S, Ye J, et al: Upregulation of mitochondrial activity and acquirement of brown adipose tissue-like property in the white adipose tissue of Fsp27 deficient mice. PLoS ONE 2008;3:e2890.
12. Bickel PE, Tansey JT, Welte MA: PAT proteins, an ancient family of lipid droplet proteins that regulate cellular lipid stores. Biochim Biophys Acta 2009; 1791:419-440.
13. Martinez-Botas J, Anderson JB, Tessier D, Lapillonne A, Chang BH-J, Quast MJ, et al: Absence of perilipin results in leanness and reverses obesity in Leprdb/db mice. Nat Genet 2000;26:474-479.
14. Tansey JT, Sztalryd C, Gruia-Gray J, Roush DL, Zee JV, Gavrilova O, et al: Perilipin ablation results in a lean mouse with aberrant adipocyte lipolysis, enhanced leptin production, and resistance to dietinduced obesity. Proc Natl Acad Scie 2001;98: 6494-6499.
15. Brasaemle D, Subramanian V, Garcia A, Marcinkiewicz A, Rothenberg A: Perilipin A and the control of triacylglycerol metabolism. Mol Cell Biochem 2009;326:15-21.
16. Gandotra S, Lim K, Girousse A, Saudek V, O'Rahilly S, Savage DB: Human frameshift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator, AB-hydrolase containing 5 (ABHD5). J Biol Chem 2011;286: 34998-35006.
17. Zimmermann R, Strauss JG, Haemmerle G, Schoiswohl G, Birner-Gruenberger R, Riederer M, et al: Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. Science 2004;306:1383-1386.
18. Granneman JG, Moore H-PH, Krishnamoorthy R, Rathod M: Perilipin controls lipolysis by regulating the interactions of AB-hydrolase containing 5 (Abhd5) and adipose triglyceride lipase (Atgl). J Biol Chem 2009;284:34538-34544.
19. Savage DB, Petersen KF, Shulman GI: Disordered lipid metabolism and the pathogenesis of insulin resistance. Physiol Rev 2007;87:507-520.
20. Kosteli A, Sugaru E, Haemmerle G, Martin JF, Lei J, Zechner R, et al: Weight loss and lipolysis promote a dynamic immune response in murine adipose tissue. J Clin Invest 2010;120:3466-3479.
21. Puri V, Ranjit S, Konda S, Nicoloro SMC, Straubhaar J, Chawla A, et al: Cidea is associated with lipid droplets and insulin sensitivity in humans. Proc Natl Acad Sci 2008;105:7833-7838.