Association of a homozygous nonsense caveolin-1 mutation with berardinelli-seip congenital lipodystrophy

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 4, 2008, Pages 1129-1134

  Kim, C A ^a   Delépine, Marc ^b   Boutet, Emilie ^c   El Mourabit, Haquima ^c   Le Lay, Soazig ^c   Meier, Muriel ^c   Nemani, Mona ^c   Bridel, Etienne ^d   Leite, Claudia C ^a   Bertola, Debora R ^a   Semple, Robert K ^e   O'Rahilly, Stephen ^e   Dugail, Isabelle ^c   Capeau, Jacqueline ^c   Lathrop, Mark ^b   Magré, Jocelyne ^c  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^c INSERM   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

1 ACYLGLYCEROPHOSPHATE ACYLTRANSFERASE; 1 ACYLGLYCEROPHOSPHATE ACYLTRANSFERASE 2; CALCITRIOL; CAVEOLIN 1; GENE PRODUCT; INSULIN; SEIPIN; UNCLASSIFIED DRUG;

ADIPOCYTE; ADIPOSE TISSUE; ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CAV1 GENE; CAVEOLA; CELL MEMBRANE; CONGENITAL GENERALIZED LIPODYSTROPHY; CONSANGUINEOUS MARRIAGE; DIABETES MELLITUS; DYSLIPIDEMIA; FEMALE; GENE; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HYPOCALCEMIA; INSULIN RESISTANCE; INTRAABDOMINAL FAT; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SKIN FIBROBLAST; SUBCUTANEOUS FAT;

MUS;

EID: 41549146084     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-1328     Document Type: Article

References (30)

1. Seip M, Trygstad O 1996 Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl 413:2-28
2. Agarwal AK, Garg A 2006 Genetic disorders of adipose tissue development, differentiation, and death. Annu Rev Genomics Hum Genet 7:175-199
3. Magré J, Delépine M, Khallouf E, Gedde-Dahl Jr T, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J 2001 Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 28:365-370
4. Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A 2002 AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 31:21-23
5. Agarwal AK, Simha V, Arioglu Oral E, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali L, Garg A 2003 Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab 88:4840-4847
6. Ebihara K, Kusakabe T, Masuzaki H, Kobayashi N, Tanaka T, Chusho H, Miyanaga F, Miyazawa T, Hayashi T, Hosoda K, Ogawa Y, Nakao K 2004 Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. J Clin Endocrinol Metab 89:2360-2364
7. Magré J, Delépine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, AKC, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M 2003 Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes 52:1573-1578
8. Van Maldergem L, Magré J, Gedde-Dahl Jr T, Khallouf E, Delépine M, Trygstad O, Seemova E, Stephenson T, Albott C, Bonnici F, Panz V, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, de Kerdanet M, Mégarbané A, Tubiana-Rufi N, Maassen A, Polak M, Lacombe D, Kahn C, Silveira E, d'Abronzo H, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S 2002 Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet 39:722-733
9. Engelman JA, Zhang XL, Lisanti MP 1998 Genes encoding human caveolin-1 and -2 are co-localized to the D7S522 locus (7q31.1), a known fragile site (FRA7G) that is frequently deleted in human cancers. FEBS Lett 436:403-410
10. Cohen AW, Hnasko R, Schubert W, Lisanti MP 2004 Role of caveolae and caveolins in health and disease. Physiol Rev 84:1341-1379
11. Parton RG, Simons K 2007 The multiple faces of caveolae. Nat Rev Mol Cell Biol 8:185-194
12. Le Lay S, Kurzchalia TV 2005 Getting rid of caveolins: phenotypes of caveolin-deficient animals. Biochim Biophys Acta 1746:322-333
13. Razani B, Combs TP, Wang XB, Frank PG, Park DS, Russell RG, Li M, Tang B, Jelicks LA, Scherer PE, Lisanti MP 2002 Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. J Biol Chem 277:8635-8647
14. Mastick CC, Brady MJ, Saltiel AR 1995 Insulin stimulates the tyrosine phosphorylation of caveolin. J Cell Biol 129:1523-1531
15. Drab M, Verkade P, Elger M, Kasper M, Lohn M, Lauterbach B, Menne J, Lindschau C, Mende F, Luft FC, Schedl A, Haller H, Kurzchalia TV 2001 Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice. Science 293:2449-2452
16. Simha V, Garg A 2003 Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or Seipin genes. J Clin Endocrinol Metab 88:5433-5437
17. Slawik M, Vidal-Puig AJ 2006 Lipotoxicity, overnutrition and energy metabolism in aging. Ageing Res Rev 5:144-164
18. Unger RH 2005 Longevity, lipotoxicity and leptin: the adipocyte defense against feasting and famine. Biochimie (Paris) 87:57-64
19. Hayashi K, Matsuda S, Machida K, Yamamoto T, Fukuda Y, Nimura Y, Hayakawa T, Hamaguchi M 2001 Invasion activating caveolin-1 mutation in human scirrhous breast cancers. Cancer Res 61:2361-2364
20. Williams TM, Lisanti MP 2005 Caveolin-1 in oncogenic transformation, cancer, and metastasis. Am J Physiol Cell Physiol 288:C494-C506
21. Cohen AW, Razani B, Wang XB, Combs TP, Williams TM, Scherer PE, Lisanti MP 2003 Caveolin-1-deficient mice show insulin resistance and defective insulin receptor protein expression in adipose tissue. Am J Physiol Cell Physiol 285:C222-C235
22. Fruhbeck G, Lopez M, Dieguez C 2007 Role of caveolins in body weight and insulin resistance regulation. Trends Endocrinol Metab 18:177-182
23. Pelkmans L, Helenius A 2002 Endocytosis via caveolae. Traffic 3:311-320
24. Le Lay S, Hajduch E, Lindsay MR, Le Liepvre X, Thiele C, Ferre P, Parton RG, Kurzchalia T, Simons K, Dugail I 2006 Cholesterol-induced caveolin targeting to lipid droplets in adipocytes: a role for caveolar endocytosis. Traffic 7:549-561
25. Fernandez MA, Albor C, Ingelmo-Torres M, Nixon SJ, Ferguson C, Kurzchalia T, Tebar F, Enrich C, Parton RG, Pol A 2006 Caveolin-1 is essential for liver regeneration. Science 313:1628-1632
26. Gray SL, Nora ED, Grosse J, Manieri M, Stoeger T, Medina-Gomez G, Burling K, Wattler S, Russ A, Yeo GS, Chatterjee VK, O'Rahilly S, Voshol PJ, Cinti S, Vidal-Puig A 2006 Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor γ function (P465L PPARγ) in mice. Diabetes 55:2669-2677
27. Cao G, Yang G, Timme TL, Saika T, Truong LD, Satoh T, Goltsov A, Park SH, Men T, Kusaka N, Tian W, Ren C, Wang H, Kadmon D, Cai WW, Chinault AC, Boone TB, Bradley A, Thompson TC 2003 Disruption of the caveolin-1 gene impairs renal calcium reabsorption and leads to hypercalciuria and urolithiasis. Am J Pathol 162:1241-1248
28. Bonham L, Leung DW, White T, Hollenback D, Klein P, Tulinsky J, Coon M, De Vries P, Singer JW 2003 Lysophosphatidic acid acyltransferase-β: a novel target for induction of tumour cell apoptosis. Expert Opin Ther Targets 7:643-661
29. Diefenbach CS, Soslow RA, Iasonos A, Linkov I, Hedvat C, Bonham L, Singer J, Barakat RR, Aghajanian C, Dupont J 2006 Lysophosphatidic acid acyltransferase-β (LPAAT-β) is highly expressed in advanced ovarian cancer and is associated with aggressive histology and poor survival. Cancer 107:1511-1519
30. Grilo A, Fernandez ML, Beltran M, Ramirez-Lorca R, Gonzalez MA, Royo JL, Gutierrez-Tous R, Moron FJ, Couto C, Serrano-Rios M, Saez ME, Ruiz A, Real LM 2006 Genetic analysis of CAV1 gene in hypertension and metabolic syndrome. Thromb Haemost 95:696-701