A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism.
Fiche publication
Date publication
octobre 2023
Journal
Clinical epigenetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis, Dr OUSSALAH Abderrahim
Tous les auteurs :
Matmat K, Conart JB, Graindorge PH, El Kouche S, Hassan Z, Siblini Y, Umoret R, Safar R, Baspinar O, Robert A, Alberto JM, Oussalah A, Coelho D, Guéant JL, Guéant-Rodriguez RM
Lien Pubmed
Résumé
MTR gene encodes the cytoplasmic enzyme methionine synthase, which plays a pivotal role in the methionine cycle of one-carbon metabolism. This cycle holds a significant importance in generating S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH), the respective universal methyl donor and end-product of epigenetic transmethylation reactions. cblG type of inherited disorders of vitamin B12 metabolism due to mutations in MTR gene exhibits a wide spectrum of symptoms, including a retinopathy unresponsive to conventional therapies.
Mots clés
DNA methylation, Epigenetics, Methionine synthase, Retina, Retinoid metabolism, Vitamin B12
Référence
Clin Epigenetics. 2023 10 5;15(1):158