[Something new in the genetics of monogenic obesity and its insights into pathophysiology].

Med Sci (Paris)

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.

Published: October 2020

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.

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Source
http://dx.doi.org/10.1051/medsci/2020156DOI Listing

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