Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B 12 .
Abderrahim OussalahYoussef SibliniSébastien HergalantCéline ChéryPierre RouyerCatia CavicchiRenzo GuerriniPierre-Emmanuel MorangeDavid TrégouëtMihaela PupavacDavid WatkinsTomi PastinenWendy K ChungCan FiciciogluFrançois FeilletD Sean FroeseMatthias R BaumgartnerJean-François BenoistJacek MajewskiAmelia MorroneDavid S RosenblattJean-Louis GuéantPublished in: Clinical epigenetics (2022)
The antisense readthrough transcription of the mutated PRDX1 produces an epigenetic silencing of MMACHC and TESK2. We propose using the term 'epi-digenism' to define this epigenetic disorder that affects two genes. Epi-cblC is an entity that differs from cblC. Indeed, the PRDX1 and TESK2 altered expressions are observed in epi-cblC but not in cblC, suggesting further evaluating the potential consequences on cancer risk and spermatogenesis.