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    Topic review

    LEP Gene

    View times: 9
    Submitted by: Peter Tang
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    leptin

    1. Normal Function

    The LEP gene provides instructions for making a hormone called leptin, which is involved in the regulation of body weight. Normally, the body's fat cells release leptin in proportion to their size. As fat accumulates in cells, more leptin is produced. This rise in leptin indicates that fat stores are increasing.

    Leptin attaches (binds) to and activates a protein called the leptin receptor, fitting into the receptor like a key into a lock. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of the brain called the hypothalamus. The hypothalamus controls hunger and thirst as well as other functions such as sleep, moods, and body temperature. It also regulates the release of many hormones that have functions throughout the body. In the hypothalamus, the binding of leptin to its receptor triggers a series of chemical signals that affect hunger and help produce a feeling of fullness (satiety).

    2. Health Conditions Related to Genetic Changes

    2.1. Congenital leptin deficiency

    At least seven LEP gene mutations that cause congenital leptin 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). The LEP gene mutations that cause congenital leptin deficiency lead to an absence of leptin. As a result, the signaling that triggers feelings of satiety does not occur, leading to the excessive hunger and weight gain associated with this disorder. Because hypogonadotropic hypogonadism occurs in congenital leptin deficiency, researchers suggest that leptin signaling is also involved in regulating the hormones that control sexual development. However, the specifics of this involvement and how it may be altered in congenital leptin deficiency are unknown.

    3. Other Names for This Gene

    • LEP_HUMAN
    • LEPD
    • leptin (murine obesity homolog)
    • leptin (obesity homolog, mouse)
    • OB
    • obese protein
    • obese, mouse, homolog of
    • obesity factor
    • OBS

    The entry is from https://medlineplus.gov/genetics/gene/lep

    References

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    2. Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S. Effects of recombinant leptin therapy in a childwith congenital leptin deficiency. N Engl J Med. 1999 Sep 16;341(12):879-84. Citation on PubMed
    3. Farooqi IS, Matarese G, Lord GM, Keogh JM, Lawrence E, Agwu C, Sanna V, JebbSA, Perna F, Fontana S, Lechler RI, DePaoli AM, O'Rahilly S. Beneficial effectsof leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolicdysfunction of human congenital leptin deficiency. J Clin Invest. 2002Oct;110(8):1093-103. Citation on PubMed or Free article on PubMed Central
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    6. Mazen I, El-Gammal M, Abdel-Hamid M, Amr K. A novel homozygous missensemutation of the leptin gene (N103K) in an obese Egyptian patient. Mol GenetMetab. 2009 Aug;97(4):305-8. doi: 10.1016/j.ymgme.2009.04.002. Epub 2009 Apr 9. Citation on PubMed
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    8. O'Rahilly S. Leptin: defining its role in humans by the clinical study ofgenetic disorders. Nutr Rev. 2002 Oct;60(10 Pt 2):S30-4; discussion S68-84, 85-7.Review. Citation on PubMed
    9. Ozata M, Ozdemir IC, Licinio J. Human leptin deficiency caused by a missensemutation: multiple endocrine defects, decreased sympathetic tone, and immunesystem dysfunction indicate new targets for leptin action, greater central thanperipheral resistance to the effects of leptin, and spontaneous correction ofleptin-mediated defects. J Clin Endocrinol Metab. 1999 Oct;84(10):3686-95.Erratum in: J Clin Endocrinol Metab 2000 Jan;85(1):416. Citation on PubMed
    10. Saeed S, Butt TA, Anwer M, Arslan M, Froguel P. High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity fromPakistani consanguineous families. Mol Genet Metab. 2012 May;106(1):121-6. doi:10.1016/j.ymgme.2012.03.001. Epub 2012 Mar 10. Erratum in: Mol Genet Metab. 2013 Aug;109(4):404. Citation on PubMed
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