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- W4296380319 abstract "Loss-of-function mutations in melanocortin-4 receptor (MC4R) are the most common cause of monogenic obesity, a severe type of early-onset obesity. Our aim was to determine the prevalence of MC4R mutations in a cohort of 97 Argentinian children with early-onset obesity. We found two novel mutations (p.V52E and p.G233S) and estimated a prevalence of 2.1%. We investigated the pathogenicity of mutations in HEK293T cells expressing wild-type or mutant MC4R and found that both mutants exhibited reduced plasma membrane expression and altered agonist-induced cAMP responses, with no changes in basal activity. Besides, MC4R G233S mutant demonstrated an altered agonist-dependent inhibition of voltage-gated calcium channels type 2.2. Results using a Gαs protein inhibitor suggest that the G233S mutation could be recruiting a different G-protein signaling pathway. The identification of new mutations in MC4R and characterization of their functional impact provide tools for the diagnosis and treatment of monogenic obesity." @default.
- W4296380319 created "2022-09-20" @default.
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- W4296380319 date "2023-01-01" @default.
- W4296380319 modified "2023-10-06" @default.
- W4296380319 title "Functional alterations of two novel MC4R mutations found in Argentinian pediatric patients with early onset obesity" @default.
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- W4296380319 doi "https://doi.org/10.1016/j.mce.2022.111777" @default.
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- W4296380319 hasPublicationYear "2023" @default.
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