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

https://www.ncbi.nlm.nih.gov/pubmed/37798757

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.