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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction (see comments)

机译：人类瘦素受体基因的突变会导致肥胖和垂体功能障碍（请参阅评论）

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摘要

The adipocyte-specific hormone leptin, the product of the obese (ob) gene, regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure. Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family. In rodents, homozygous mutations in genes encoding leptin or the leptin receptor cause early-onset morbid obesity, hyperphagia and reduced energy expenditure. These rodents also show hypercortisolaemia, alterations in glucose homeostasis, dyslipidaemia, and infertility due to hypogonadotropic hypogonadisms. In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity. Here we describe a homozygous mutation in the human leptin receptor gene that results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains. In addition to their early-onset morbid obesity, patients homozygous for this mutation have no pubertal development and their secretion of growth hormone and thyrotropin is reduced. These results indicate that leptin is an important physiological regulator of several endocrine functions in humans.
机译：肥胖（ob）基因的产物，脂肪细胞特异性激素瘦素，通过下丘脑对饱腹感和能量消耗的影响来调节脂肪组织的质量。瘦素通过瘦素受体起作用，瘦素受体是细胞因子受体家族的一个跨膜结构域受体。在啮齿动物中，编码瘦素或瘦素受体的基因中的纯合突变会导致早发性病态肥胖，食欲亢进并减少能量消耗。这些啮齿动物还显示出高皮质醇血症，葡萄糖稳态变化，血脂异常和由于性腺功能低下性腺功能减退引起的不育。在人类中，由于瘦素基因突变导致的瘦素缺乏与肥胖症的发作有关。在这里，我们描述了人类瘦素受体基因的纯合突变，导致突变的瘦素受体缺乏跨膜和胞内结构域。除早发病态肥胖外，这种突变的纯合患者没有青春期发育，其生长激素和促甲状腺激素的分泌减少。这些结果表明瘦蛋白是人类几种内分泌功能的重要生理调节剂。

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