Article
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
Human molecular genetics - 1 Dec 2015
Limoge Floriane, Faivre Laurence, Gautier Thomas, Petit Jean-Michel, Gautier Elodie, Masson David, Jego Gaëtan, El Chehadeh-Djebbar Salima, Marle Nathalie, Carmignac Virginie, Deckert Valérie, Brindisi Marie-Claude, Edery Patrick, Ghoumid Jamal, Blair Edward, Lagrost Laurent, Thauvin-Robinet Christel, Duplomb Laurence
Abstract excerpt
Cohen Syndrome (CS) is a rare autosomal recessive disorder, with defective glycosylation secondary to mutations in the VPS13B gene, which encodes a protein of the Golgi apparatus. Besides congenital neutropenia, retinopathy and intellectual deficiency, CS patients are faced with truncal obesity. Metabolism investigations showed abnormal glucose tolerance tests and low HDL values in some patients, and these could...
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