Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B.

Date publication

avril 2022

Journal

Clinical epigenetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis , Dr OUSSALAH Abderrahim

Tous les auteurs :
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/35440018

Résumé

epi-cblC is a recently discovered inherited disorder of intracellular vitamin B metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter common to CCDC163P and MMACHC, which results from an aberrant antisense transcription due to splicing mutations in the antisense PRDX1 gene neighboring MMACHC. We studied whether the aberrant transcription produced a second epimutation by encompassing the CpG island of the TESK2 gene neighboring CCDC163P.

Mots clés

Epi-cblC, MMACHC, Methylmalonic aciduria and homocystinuria, cblC type, Promoter hypermethylation, Secondary epimutation, TESK2

Référence

Clin Epigenetics. 2022 Apr 19;14(1):52