Effects of recombinant leptin therapy in a child with congenital leptin deficiency
Effects of recombinant leptin therapy in a child with congenital leptin deficiency
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DOI：
10.1056/nejm199909163411204
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发表时间：
1999-09-16
影响因子：
158.5
通讯作者：
O'Rahilly, S
中科院分区：
文献类型：
--
作者：
Farooqi, IS;Jebb, SA;O'Rahilly, S
严重肥胖（ob/ob）小鼠缺乏脂肪细胞衍生的激素瘦素，瘦素作用于下丘脑以控制食欲和能量消耗。1向这些小鼠施用瘦素通过减少它们的食物摄入和增加它们的能量消耗来纠正它们的肥胖。2 - 4这些小鼠还具有高胰岛素血症、皮质酮过量和不育症，这些也可以通过瘦素治疗来逆转。5在人类中，一般来说，血清瘦素浓度与肥胖指数呈正相关。6，7我们先前描述了两名患有严重早发性肥胖症且血清瘦素浓度检测不到的表兄弟，他们是瘦素移码突变的纯合子。
Severely obese (ob/ob) mice are deficient in the adipocyte-derived hormone leptin, which acts on the hypothalamus to control appetite and energy expenditure.1The administration of leptin to these mice corrects their obesity by reducing their food intake and increasing their energy expenditure.2–4These mice also have hyperinsulinemia, corticosterone excess, and infertility, which also are reversed by treatment with leptin.5In humans, serum leptin concentrations, in general, correlate positively with indexes of obesity.6,7We previously described two cousins with severe, early-onset obesity and undetectable serum leptin concentrations who were homozygous for a frame-shift mutation in the leptin . . .