Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variability.
Fiche publication
Date publication
janvier 2024
Journal
EBioMedicine
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis, Dr OUSSALAH Abderrahim
Tous les auteurs :
Wiedemann A, Oussalah A, Guéant Rodriguez RM, Jeannesson E, Mertens M, Rotaru I, Alberto JM, Baspinar O, Rashka C, Hassan Z, Siblini Y, Matmat K, Jeandel M, Chery C, Robert A, Chevreux G, Lignières L, Camadro JM, Feillet F, Coelho D, Guéant JL
Lien Pubmed
Résumé
The high variability in clinical and metabolic presentations of inborn errors of cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in methylmalonyl-coA mutase (MUT) and methionine synthase (MS), are not well understood. They could be explained by the impaired expression/activity of enzymes from other metabolic pathways.
Mots clés
Inborn errors of metabolism, MMACHC, Methionine synthase, Methylmalonyl-CoA mutase, One-carbon metabolism, Vitamin B12 deficiency
Référence
EBioMedicine. 2024 01 1;99:104911