Partial leptin deficiency and human adiposity
Abstract
The adipocyte-derived hormone leptin is crucial for energy homeostasis in mammals; mice and humans without it suffer from a voracious appetite and extreme obesity. The effect on energy balance of variations in plasma leptin above a minimal threshold is uncertain, however, particularly in humans. Here we examine a group of individuals who are genetically partially deficient in leptin, and show that differences in circulating leptin levels within the range found in normal human populations can directly influence the laying down of fat tissue (adiposity).
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Genetic mutations in the leptin pathway can be a cause of human obesity.
“Mutations in the leptin pathway can be a cause of human obesity (5–7).”
From Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults (2004) · cites this paper as [5]
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Choquet, H., & Meyre, D. (2011) · Current Genomics · doi:10.2174/138920211795677921 · Cited by 105 · see citing works
Intergenerational cost–benefit analysis and marine ecosystem restoration
Sumaila, U. R. (2004) · Fish and Fisheries · doi:10.1111/j.1467-2679.2004.00166.x · Cited by 102 · see citing works
β‐Aminoisobutyric Acid Prevents Diet‐induced Obesity in Mice With Partial Leptin Deficiency
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Obesity, Inflammation, and Vascular Disease
Calabrò, P., & Yeh, E. T. H. (2007) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/1-4020-5688-5_3 · Cited by 99 · see citing works
Pediatric Obesity: Etiology and Treatment
Crocker, M. K., & Yanovski, J. A. (2009) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2009.06.007 · Cited by 95 · see citing works
- Authors
- Farooqi, I. S., Keogh, J. M., Kamath, S., Jones, S., Gibson, W. T., Trussell, R., Jebb, S. A., Lip, G. Y. H., & O'Rahilly, S.
- Affiliations
- University of Cambridge (GB)
- Birmingham City Hospital (GB)
- MRC Elsie Widdowson Laboratory (GB)
- Alberta Children's Hospital (CA)
- Venue
- Nature
- Published
- 2001-11
- Volume
- 414
- Issue
- 6859
- Pages
- 34-35
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1527986744
- Cited by
- 407
- References
- 9
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 8 · 2023: 7 · 2022: 12 · 2021: 16 · 2020: 18 · 2019: 7 · 2018: 7 · 2017: 12 · 2016: 13 · 2015: 7 · 2014: 11 · 2013: 18 · 2012: 14
- FWCI
- 9.97
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Regulation of Appetite and Obesity
- Health Sciences › Medicine › Epidemiology › Adipokines, Inflammation, and Metabolic Diseases
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Keywords
- leptin, adiposity, obesity, energy homeostasis, appetite
- MeSH terms
- Adipose Tissue, Adult, Energy Metabolism, Biological Evolution, Female, Heterozygote, Humans, Male, Middle Aged, Obesity, Body Mass Index, Frameshift Mutation, Leptin
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