Fiche publication
Date publication
novembre 2023
Journal
Metabolism: clinical and experimental
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis
Tous les auteurs :
Heinken A, El Kouche S, Rodriguez-Guéant RM, Guéant JL
Lien Pubmed
Résumé
Inborn errors of metabolism (IEMs) are a group of more than 1000 inherited diseases that are individually rare but have a cumulative global prevalence of 50 per 100,000 births. Recently, it has been recognized that like common diseases, patients with rare diseases can greatly vary in the manifestation and severity of symptoms. Here, we review omics-driven approaches that enable an integrated, holistic view of metabolic phenotypes in IEM patients. We focus on applications of Constraint-based Reconstruction and Analysis (COBRA), a widely used mechanistic systems biology approach, to model the effects of inherited diseases. Moreover, we review evidence that the gut microbiome is also altered in rare diseases. Finally, we outline an approach using personalized metabolic models of IEM patients for the prediction of biomarkers and tailored therapeutic or dietary interventions. Such applications could pave the way towards personalized medicine not just for common, but also for rare diseases.
Mots clés
Constraint-based reconstruction and analysis, Inborn errors of cobalamin metabolism, Inborn errors of metabolism, Microbiome, Systems biology
Référence
Metabolism. 2023 11 17;:155738
