Congenital leptin deficiency is associated with severe early-onset obesity in humans

Montague, CT, Farooqi, IS, Whitehead, JP, Soos, MA, Rau, H, Wareham, NJ, Sewter, CP, Digby, JE, Mohammed, SN, Hurst, JA, Cheetham, CH, Earley, AR, Barnett, AH, Prins, JB and ORahilly, S (1997) Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature, 387 6636: 903-908. doi:10.1038/43185


Author Montague, CT
Farooqi, IS
Whitehead, JP
Soos, MA
Rau, H
Wareham, NJ
Sewter, CP
Digby, JE
Mohammed, SN
Hurst, JA
Cheetham, CH
Earley, AR
Barnett, AH
Prins, JB
ORahilly, S
Title Congenital leptin deficiency is associated with severe early-onset obesity in humans
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
Publication date 1997-06-01
Year available 1997
Sub-type Article (original research)
DOI 10.1038/43185
Open Access Status Not yet assessed
Volume 387
Issue 6636
Start page 903
End page 908
Total pages 6
Place of publication LONDON
Publisher MACMILLAN MAGAZINES LTD
Language eng
Abstract The extreme obesity of the obese (ob/ob) mouse is attributable to mutations in the gene encoding leptin(1), an adipocyte-specific secreted protein which has profound effects on appetite and energy expenditure. We know of no equivalent evidence regarding leptin's role in the control of fat mass in humans. We have examined two severely obese children who are members of the same highly consanguineous pedigree. Their serum leptin levels were very low despite their markedly elevated fat mass and, in both, a homozygous frame-shift mutation involving the deletion of a single guanine nucleotide in codon 133 of the gene for leptin was found. The severe obesity found in these congenitally leptin-deficient subjects provides the first genetic evidence that leptin is an important regulator of energy balance in humans.
Keyword Messenger-Rna
Gene-Product
Ob Rna
Mice
Protein
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: ResearcherID Downloads - Archived
 
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