Human Genetic Laboratory, Department of General Biology, Institute of Biology, Federal Fluminense University, Niterói, Brazil.
Human Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Front Endocrinol (Lausanne). 2021 Aug 24;12:722441. doi: 10.3389/fendo.2021.722441. eCollection 2021.
Obesity is a pandemic condition of complex etiology, resulting from the increasing exposition to obesogenic environmental factors combined with genetic susceptibility. In the past two decades, advances in genetic research identified variants of the leptin-melanocortin pathway coding for genes, which are related to the potentiation of satiety and hunger, immune system, and fertility. Here, we review cases of congenital leptin deficiency and the possible beneficial effects of leptin replacement therapy. In summary, the cases presented here show clinical phenotypes of disrupted bodily energy homeostasis, biochemical and hormonal disorders, and abnormal immune response. Some phenotypes can be partially reversed by exogenous administration of leptin. With this review, we aim to contribute to the understanding of leptin gene mutations as targets for obesity diagnostics and treatment strategies.
肥胖症是一种复杂病因的流行病症，是由于人们越来越多地暴露在致肥胖环境因素下，再加上遗传易感性所致。在过去的二十年中，遗传研究的进展确定了瘦素-黑皮质素途径编码基因的变异，这些基因与饱腹感和饥饿感、免疫系统和生育能力的增强有关。在这里，我们回顾了先天性瘦素缺乏症的病例以及瘦素替代治疗的可能有益效果。总之，这里介绍的病例表现出身体能量平衡紊乱、生化和激素紊乱以及异常免疫反应的临床表型。一些表型可以通过外源性给予瘦素来部分逆转。通过本次综述，我们旨在帮助理解瘦素基因突变作为肥胖症诊断和治疗策略的靶点。
