[Something new in the genetics of monogenic obesity and its insights into pathophysiology].
Du nouveau dans la génétique des formes monogéniques d’obésité et son impact pour mieux en comprendre la physiopathologie.
Journal
Medecine sciences : M/S
ISSN: 1958-5381
Titre abrégé: Med Sci (Paris)
Pays: France
ID NLM: 8710980
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
entrez:
7
10
2020
pubmed:
8
10
2020
medline:
13
11
2020
Statut:
ppublish
Résumé
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. Du nouveau dans la génétique des formes monogéniques d’obésité et son impact pour mieux en comprendre la physiopathologie. L’obésité est une maladie complexe multifactorielle. Chez environ 5 % des individus obèses, il existe des formes monogéniques d’obésité pour laquelle une seule mutation est suffisante pour entraîner la maladie. Jusqu’à présent, les gènes mutés identifiés dans ces formes monogéniques sont impliqués dans la voie leptine/mélanocortine, principalement active au niveau de l’hypothalamus et régissant la satiété. Récemment, notre laboratoire a décrit une nouvelle forme monogénique d’obésité. Elle est due à une déficience du gène MRAP2 (melanocortin-2 receptor accessory protein 2) pour laquelle, contrairement aux formes précédemment décrites, on retrouve chez les porteurs une hyperglycémie et une hypertension, suggérant que MRAP2 joue un rôle biologique général dans les tissus métaboliques en plus de son rôle dans l’hypothalamus.
Autres résumés
Type: Publisher
(fre)
Du nouveau dans la génétique des formes monogéniques d’obésité et son impact pour mieux en comprendre la physiopathologie.
Identifiants
pubmed: 33026327
doi: 10.1051/medsci/2020156
pii: msc200132
doi:
Substances chimiques
Leptin
0
MC4R protein, human
0
Receptor, Melanocortin, Type 4
0
Receptors, Leptin
0
Pro-Opiomelanocortin
66796-54-1
Types de publication
Journal Article
Review
Langues
fre
Sous-ensembles de citation
IM
Pagination
859-865Informations de copyright
© 2020 médecine/sciences – Inserm.
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