Baron Morgane, Froguel Philippe, Bonnefond Amélie
Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, Université de Lille, CHU de Lille, 1 place de Verdun, 59045, France.
Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, Université de Lille, CHU de Lille, 1 place de Verdun, 59045, France - Department of Metabolism, Imperial College London, Londres, W12 0NN, Royaume-Uni.
Med Sci (Paris). 2020 Oct;36(10):859-865. doi: 10.1051/medsci/2020156. Epub 2020 Oct 7.
Obesity is a complex, multifactorial disorder. About 5% of obese patients actually present with a monogenic form of obesity where only one mutation is sufficient to cause the disease. So far, the genes that have been found to be mutated in these monogenic forms play a key role in the leptin/melanocortin pathway which is mainly active in the hypothalamus and which regulates food intake and energy expenditure. Our laboratory has recently reported a novel monogenic form of obesity due to MRAP2 deficiency where, contrary to previously described monogenic forms of obesity, the carriers presented with hyperglycemia and hypertension in addition to obesity, suggesting that MRAP2 might play a pleiotropic role in metabolic tissues, in addition to its role in brain control of food intake and energy expenditure.
肥胖是一种复杂的多因素疾病。约5%的肥胖患者实际上患有单基因形式的肥胖症，其中仅一个突变就足以引发该病。到目前为止，已发现这些单基因形式中发生突变的基因在瘦素/黑皮质素途径中起关键作用，该途径主要在下丘脑活跃，并调节食物摄入和能量消耗。我们实验室最近报告了一种由于MRAP2缺乏导致的新型单基因肥胖症，与先前描述的单基因肥胖症形式相反，携带者除肥胖外还出现高血糖和高血压，这表明MRAP2除了在大脑控制食物摄入和能量消耗中发挥作用外，可能在代谢组织中也发挥多效性作用。
