Obesity in patients with Bardet-Biedl syndrome: influence of appetite-regulating hormones.
BACKGROUND
Bardet-Biedl syndrome (BBS) is a genetic disorder with obesity as one of the major phenotypic criterion, which is proposed to be of neuroendocrine origin. Therefore, disturbances in appetite-regulating hormones have been considered as causative factors. Acyl ghrelin is an orexigenic hormone, whereas its desacylated form, obestatin, and leptin have the opposite functions. Ghrelin is negatively regulated in relation to nutritional status. The aim of this study was to evaluate the impact of hormone alterations on obesity development in BBS patients.


METHODS
Total and acylated ghrelin, obestatin, leptin and adiponectin were measured in eight children with BBS. The results were analyzed in relation to auxological parameters [body mass index (BMI), height].


RESULTS
The mean BMI was significantly increased in BBS patients compared to the controls. Plasma levels of acylated ghrelin, total ghrelin and obestatin were slightly elevated in BBS patients compared to controls, as was the acyl/total ghrelin ratio. Leptin levels were significantly elevated in BBS patients.


CONCLUSIONS
BBS patients lack the negative regulatory mechanisms of appetite-regulating hormones with respect to nutritional status and exhibit resistance to anorexigenic leptin. This results in a shift towards the orexigenic effects of this self-regulating system. These alterations may in part be responsible for the disturbed appetite regulation in BBS patients.
Department of Paediatrics II, Paediatric Nephrology, Endocrinology, Gastroenterology and Transplant Medicine, Children's Hospital, University of Duisburg-Essen, Essen, Germany. anja.buescher@uk-essen.de.|Paediatrics II, Children's Hospital, University of Duisburg-Essen, Hufelandstraße 55, 45122, Essen, Germany. anja.buescher@uk-essen.de.
Anja K
AK
Büscher
Department of Paediatrics II, Paediatric Nephrology, Endocrinology, Gastroenterology and Transplant Medicine, Children's Hospital, University of Duisburg-Essen, Essen, Germany.
Metin
M
Cetiner
Department of Paediatrics II, Paediatric Nephrology, Endocrinology, Gastroenterology and Transplant Medicine, Children's Hospital, University of Duisburg-Essen, Essen, Germany.
Rainer
R
Büscher
Department of Paediatrics II, Paediatric Nephrology, Endocrinology, Gastroenterology and Transplant Medicine, Children's Hospital, University of Duisburg-Essen, Essen, Germany.
Anne-Margret
AM
Wingen
Department of Paediatrics II, Paediatric Nephrology, Endocrinology, Gastroenterology and Transplant Medicine, Children's Hospital, University of Duisburg-Essen, Essen, Germany.
Berthold P
BP
Hauffa
Department of Paediatrics II, Paediatric Nephrology, Endocrinology, Gastroenterology and Transplant Medicine, Children's Hospital, University of Duisburg-Essen, Essen, Germany.
Peter F
PF
Hoyer
D000215:Acylation; D052242:Adiponectin / Q000097:blood; D000293:Adolescent; D000704:Analysis of Variance; D001069:Appetite Regulation; D020788:Bardet-Biedl Syndrome / Q000097:blood* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000523:psychology; D001827:Body Height; D015992:Body Mass Index; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D025461:Feedback, Physiological; D005247:Feeding Behavior; D005260:Female; D054439:Ghrelin / Q000097:blood; D006801:Humans; D020738:Leptin / Q000097:blood; D008297:Male; D009752:Nutritional Status; D009765:Obesity / Q000097:blood* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000523:psychology; D036361:Peptide Hormones / Q000097:blood*; D015398:Signal Transduction
C499918:ADIPOQ protein, human; D052242:Adiponectin; C515349:GHRL protein, human; D054439:Ghrelin; D020738:Leptin; D036361:Peptide Hormones; C505799:obestatin, human