Medical Department III, Endocrinology, Nephrology, Rheumatology, CRC1052, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München at University of Leipzig, 04103 Leipzig, Germany.
Int J Mol Sci. 2021 Apr 25;22(9):4475. doi: 10.3390/ijms22094475.
Leptin and its receptor are essential for regulating food intake, energy expenditure, glucose homeostasis and fertility. Mutations within leptin or the leptin receptor cause early-onset obesity and hyperphagia, as described in human and animal models. The effect of both heterozygous and homozygous variants is much more investigated than compound heterozygous ones. Recently, we discovered a spontaneous compound heterozygous mutation within the leptin receptor, resulting in a considerably more obese phenotype than described for the homozygous leptin receptor deficient mice. Accordingly, we focus on compound heterozygous mutations of the leptin receptor and their effects on health, as well as possible therapy options in human and animal models in this review.
瘦素及其受体对于调节食物摄入、能量消耗、葡萄糖稳态和生育能力至关重要。瘦素或瘦素受体的突变会导致人类和动物模型中描述的早发性肥胖和多食症。与杂合子变体相比，对杂合子和纯合子变体的研究要多得多。最近，我们在瘦素受体中发现了一种自发的复合杂合突变，导致肥胖表型比描述的瘦素受体缺乏的纯合子小鼠更为明显。因此，我们在这篇综述中重点关注瘦素受体的复合杂合突变及其对健康的影响，以及在人类和动物模型中可能的治疗选择。
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