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

Author

Listed:
  • Carl T. Montague

    (University of Cambridge, Addenbrooke's Hospital)

  • I. Sadaf Farooqi

    (University of Cambridge, Addenbrooke's Hospital
    University of Cambridge, Addenbrooke's Hospital)

  • Jonathan P. Whitehead

    (University of Cambridge, Addenbrooke's Hospital
    University of Cambridge, Addenbrooke's Hospital)

  • Maria A. Soos

    (University of Cambridge, Addenbrooke's Hospital
    University of Cambridge, Addenbrooke's Hospital)

  • Harald Rau

    (University of Cambridge, Addenbrooke's Hospital
    University of Cambridge, Addenbrooke's Hospital)

  • Nicholas J. Wareham

    (University of Cambridge, Addenbrooke's Hospital)

  • Ciaran P. Sewter

    (University of Cambridge, Addenbrooke's Hospital
    University of Cambridge, Addenbrooke's Hospital)

  • Janet E. Digby

    (University of Cambridge, Addenbrooke's Hospital
    University of Cambridge, Addenbrooke's Hospital)

  • Shehla N. Mohammed

    (‖South Thames Regional Genetics Centre (East), Guy's Hospital)

  • Jane A. Hurst

    (¶Oxford Regional Genetics Service, Churchill Hospital)

  • Christopher H. Cheetham#

    (#Wycombe General Hospital)

  • Alison R. Earley#

    (#Wycombe General Hospital)

  • Anthony H. Barnett

    (University of Birmingham and Birmingham Heartlands Hospital)

  • Johannes B. Prins

    (University of Cambridge, Addenbrooke's Hospital
    University of Cambridge, Addenbrooke's Hospital)

  • Stephen O'Rahilly

    (University of Cambridge, Addenbrooke's Hospital)

Abstract

The extreme obesity of the obese (ob/ob) mouse is attributable to mutations in the gene encoding leptin1, 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.

Suggested Citation

  • Carl T. Montague & I. Sadaf Farooqi & Jonathan P. Whitehead & Maria A. Soos & Harald Rau & Nicholas J. Wareham & Ciaran P. Sewter & Janet E. Digby & Shehla N. Mohammed & Jane A. Hurst & Christopher H., 1997. "Congenital leptin deficiency is associated with severe early-onset obesity in humans," Nature, Nature, vol. 387(6636), pages 903-908, June.
    • Handle: RePEc:nat:nature:v:387:y:1997:i:6636:d:10.1038_43185
    DOI: 10.1038/43185
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    Cited by:

    1. Gregory Pavela, 2017. "Is Childhood Socioeconomic Status Independently Associated with Adult BMI after Accounting for Adult and Neighborhood Socioeconomic Status?," PLOS ONE, Public Library of Science, vol. 12(1), pages 1-22, January.
    2. Smith, Trenton G, 2002. "Obesity and Nature's Thumbprint: How Modern Waistlines Can Inform Economic Theory," University of California at Santa Barbara, Economics Working Paper Series qt31g1m028, Department of Economics, UC Santa Barbara.
    3. Henning, Christian H.C.A. & Zarnekow, Nana & Laudes, Matthias, 2015. "Can social interactions change the brain? Social network effects on obesity and related co-morbidities," 2015 AAEA & WAEA Joint Annual Meeting, July 26-28, San Francisco, California 205632, Agricultural and Applied Economics Association.
    4. Trenton Smith, 2009. "Reconciling psychology with economics: Obesity, behavioral biology, and rational overeating," Journal of Bioeconomics, Springer, vol. 11(3), pages 249-282, December.
    5. Qin Zeng & Jianfeng Song & Xiaoxiao Sun & Dandan Wang & Xiyan Liao & Yujin Ding & Wanyu Hu & Yayi Jiao & Wuqian Mai & Wufuer Aini & Fanqi Wang & Hui Zhou & Limin Xie & Ying Mei & Yuan Tang & Zhiguo Xi, 2024. "A negative feedback loop between TET2 and leptin in adipocyte regulates body weight," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    6. Ayesha Badar & Ansari AS & Lohiya NK, 2018. "An Overview on the Genetic Determinants of Infertility," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 10(4), pages 7960-7964, October.

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