Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variability.

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

https://www.ncbi.nlm.nih.gov/pubmed/38168585

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