Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations

Molecular Psychiatry

Volumn 9, Issue 8, 2004, Pages 796-800

  Hebebrand, J ^a   Geller, F ^a   Dempfle, A ^a   Heinzel Gutenbrunner, M ^a   Raab, M ^a   Gerber, G ^a   Wermter, A K ^a   Horro, F F ^a   Blundell, J ^b   Schafer H ^a   Remschmidt, H ^a   Herpertz, S ^c   Hinney, A ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

Bulimia nervosa; Eating disorders; Fat intake; MC4R; Obesity

Indexed keywords

MELANOCORTIN 4 RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; BINGE EATING DISORDER; CALORIC INTAKE; CONTROLLED STUDY; FAT INTAKE; FEEDING BEHAVIOR; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUNGER; MAJOR CLINICAL STUDY; MALE; OBESITY; PRIORITY JOURNAL; QUESTIONNAIRE; STATISTICAL SIGNIFICANCE; WILD TYPE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BODY MASS INDEX; BULIMIA; CHILD; FAMILY; HETEROZYGOTE DETECTION; HUMANS; LINKAGE DISEQUILIBRIUM; MUTATION; OBESITY; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, MELANOCORTIN, TYPE 4;

EID: 4243119539     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4001491     Document Type: Article

References (33)

1. Marks DL, Butler AA, Cone RD. Melanocortin pathway: animal models of obesity disease. Ann Endocrinol 2002; 63(Part 1): 121-124.
2. Tritos NA, Maratos-Flier E. Two important systems in energy homeostasis: melanocortins melanin-concentrating hormone. Neuropeptides 1999; 33: 339-349.
3. Hinney A, Hohmann S, Geller F, Vogel C, Hess C, Wermter AK et al. Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. J Clin Endocrinol Metab 2003; 88: 258-267.
4. Harrold JA, Widdowson PS, Williams G. Beta-MSH: a functional ligand that regulated energy homeostasis via hypothalamic? Peptides 2003; 24: 397-405.
5. Adan RA, Kas MJ 2003 Inverse agonism gains weight. Trends Pharmacol Sci 24: 315-321.
6. Yang Y, Chen M, Lai Y, Gantz I, Yagmurlu A, Georgeson KE et al. Molecular determination of agouti-related protein binding to human receptor. Mol Pharmacol 2003; 64: 94-103.
7. Huszar D, Lynch CA, Fairchild-Huntress V, Dunmore JH, Fang Q, Berkemeier LR et al. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 1997; 88: 131-141.
8. Ste Marie L, Miura GI, Marsh DJ, Yagaloff K, Palmiter RD. A metabolic defect promotes obesity in mice lacking receptors. Proc Natl Acad Sci USA 2000; 97: 12339-12344.
9. Chen AS, Metzger JM, Trumbauer ME, Guan XM, Yu H, Frazier EG et al. Role of the melanocortin-4 receptor in metabolic rate and food intake in mice. Transgenic Res 2000; 9: 145-154.
10. Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S. A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet 1998; 20: 111-112.
11. Vaisse C, Clément K, Guy-Grand B, Froguel P. A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat Genet 1998; 20: 113-114.
12. Hinney A, Schmidt A, Nottebom K, Heibült O, Becker I, Ziegler A et al. Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. J Clin Endocrinol Metab 1999; 84: 1483-1486.
13. Nijenhuis WA, Garner KM, van Rozen RJ, Adan RA. Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. J Biol Chem 2003; 278: 22939-22945.
14. Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S. Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. Hum Mol Genet 2003; 12: 561-574.
15. Lubrano-Berthelier C, Durand E, Dubern B, Shapiro A, Dazin P, Weill J et al. Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. Hum Mol Genet 2003; 12: 145-153.
16. Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 2000; 106: 253-262.
17. Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 2003; 348: 1085-1095.
18. Sina M, Hinney A, Ziegler A, Neupert T, Mayer H, Siegfried W et al. Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. Am J Hum Genet 1999; 65: 1501-1507.
19. Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G et al. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J Clin Invest 2000; 106: 271-279.
20. Branson R, Potoczna N, Kral JG, Lentes K-U, Hoehe MR, Horber FF. Binge eating as a major phenotype of melanocortin 4 receptor gene mutations. N Engl J Med 2003; 348: 1096-1103.
21. Hebebrand J, Fichter M, Gerber G, Gorg T, Hermann H, Geller F et al. Genetic predisposition to obesity in bulimia nervosa: a mutation screen of the melanocortin-4 receptor gene. Mol Psychiatry 2002; 7: 647-651.
22. Wittchen HU, Beloch E, Garczynski E, Holly A, Lachner G, Perkonigg A et al. Münchener Composite International Diagnostic Interview (M-CIDI, Paper-pencil and CAPI version 2.2, 2/95, English). Max-Planck-Institute of Psychiatry, Clinical Institute: Munich, 1995.
23. Diagnostic and Statistical Manual of Mental Disorders, Revised 3rd edn. (DSM-III-R). American Psychiatric Association Press: Washington, DC, 1987.
24. Diagnostic and Statistical Manual of Mental Disorders, 4th edn. (DSM-IV). American Psychiatric Association Press: Washington, DC, 1994.
25. Stunkard AJ, Messick S. The three-factor eating questionnaire to measure dietary restraint, disinhibition and hunger. J Psychosom Res 1985; 29: 71-83.
26. Pudel V, Westenhöfer J. Fragebogen zum Eßverhalten: Handanweisung. Hogrefe: Göttingen, 1989.
27. Cooling J, Blundell J. Differences in energy expenditure and substrate oxidation between habitual high fat and low fat consumers (phenotypes). Int J Obes Relat Metab Disord 1998; 22: 612-618.
28. Abecasis GR, Cardon LR, Cookson WO. A general test of association for quantitative traits in nuclear families. Am J Hum Genet 2000; 66: 279-292.
29. Ho G, MacKenzie RG. Functional characterization of mutations in melanocortin-4 receptor associated with human obesity. J Biol Chem 1999; 274: 35816-35822.
30. Gu W, Tu Z, Kleyn PW, Kissebah A, Duprat L, Lee J et al. Identification and functional analysis of novel human melanocortin-4 receptor variants. Diabetes 1999; 48: 635-639.
31. Devlin MJ, Goldfein JA, Dobrow I. What is this thing called BED? Current status of binge eating disorder nosology. Int J Eat Disord 2003; 34(Suppl 1): S2-S18.
32. Lee YH, Abbott DW, Seim H, Crosby RD, Monson N, Burgard M et al. Eating disorders and psychiatric disorders in the first-degree relatives of obese probands with binge eating disorder and obese non-binge eating disorder controls. Int J Eat Disord 1999; 26: 322-332.
33. Herpertz S, Siffert W, Hebebrand J. Binge eating as a phenotype of melanocortin 4 receptor gene mutations. N Engl JMed 2003; 349: 606-609.