Health Conditions Related to Genetic Changes
Leptin receptor deficiency
At least 18 LEPR gene mutations that cause leptin receptor deficiency have been identified; this disorder is associated with excessive hunger, massive weight gain, and reduced production of hormones that direct sexual development (hypogonadotropic hypogonadism). Some of the mutations result in less receptor protein getting to the cell surface where leptin binding takes place. The receptors that get to the cell surface may bind to leptin, but their signaling function is impaired. The resulting shortage of leptin signaling disrupts normal feelings of hunger and satiety, leading to extreme weight gain.
Because hypogonadotropic hypogonadism occurs in leptin receptor deficiency, researchers suggest that leptin receptor signaling is also involved in regulating the body's response to hormones that control sexual development, and that this response is affected by LEPR gene mutations. However, the mechanism of this effect is unknown.
More About This Health ConditionOther Names for This Gene
- LEP-R
- LEPR_HUMAN
- OB receptor
- OB-R
- OBR
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
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- Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J, Farooqi IS. Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor. Endocrinology. 2008 Dec;149(12):6043-52. doi: 10.1210/en.2008-0544. Epub 2008 Aug 14. Citation on PubMed
- Lee YS. The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature. Ann Acad Med Singap. 2009 Jan;38(1):34-11. Citation on PubMed
- Wasim M, Awan FR, Najam SS, Khan AR, Khan HN. Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity. Biochem Genet. 2016 Oct;54(5):565-72. doi: 10.1007/s10528-016-9751-z. Epub 2016 Jun 16. Citation on PubMed
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