Obese (ob) gene defects are rare in human obesity
Artikel i vetenskaplig tidskrift, 1997

Our knowledge of the role of the recently cloned ob-protein (leptin) in the regulation of body fat stores is largely derived from experiments performed in mice. Different mouse models exhibit abnormalities in ob-gene expression, with extreme overexpression in mice which lack bioactive ob-protein, have nonfunctional ob-receptors or hypothalamic lesions, and undetectable expression in mice with suggested defects in regulatory elements. The aim of this study is to examine if defects, corresponding to those in mice, exist in human obesity. Adipose tissue was obtained from 94 adult obese subjects and from six children who had developed obesity after surgery in the hypothalamic region. Total RNA was isolated and ob-gene expression was examined by reverse transcriptase-polymerase chain reaction (RT-PCR) and Northern blot. The coding region of the ob-gene was sequenced in both directions in the 94 obese adults. No mutations were detected in the coding region of the ob-gene and ob-gene expression was detectable in all subjects and none of the subjects had an extreme overexpression. There was no systematic increase in ob-expression in obese children with hypothalamic disease compared to their healthy brothers and sisters. These results show that severe abnormalities involving the ob-gene, analogous to those described in mouse models, are rare in human obesity. We therefore conclude that the cloning and subsequent analysis of the ob-gene has not provided information that can, by itself, explain the genetic component in the development of human obesity.


Björn Carlsson

Göteborgs universitet

Kajsa Lindell

Göteborgs universitet

Britt Gabrielsson

Göteborgs universitet

Cecilia Karlsson

Göteborgs universitet

Ragnar Bjarnason

Göteborgs universitet

Otto Westphal

Göteborgs universitet

Karlsson Ulla

Göteborgs universitet

Lars Sjöström

Göteborgs universitet

Lena M S Carlsson

Göteborgs universitet

Obesity Research

1071-7323 (ISSN) 1550-8528 (eISSN)

Vol. 5 1 30-5


Endokrinologi och diabetes

Klinisk medicin

Biokemi och molekylärbiologi



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