bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2022, Номер unknown
Опубликована: Дек. 19, 2022
SUMMARY Pyruvate metabolism defects lead to severe neuropathies such as the Leigh syndrome (LS) but molecular mechanisms underlying neuronal cell death remain poorly understood. Here, we unravel a connection between pyruvate and regulation of epitranscriptome that is relevant LS pathogenesis. We identified transcription factor E4F1 key coordinator AcetylCoenzyme A (AcCoA) production by dehydrogenase complex (PDC) its utilization an essential co-factor Elongator acetylate tRNAs at wobble position uridine 34 (U ). E4F1-mediated direct transcriptional Dlat Elp3 , two genes encoding subunits PDC complex, respectively, ensured proper translation fidelity survival in central nervous system (CNS) during mouse embryonic development. Furthermore, analysis PDH-deficient cells highlighted crosstalk linking ELP3 expression perturbed patients.
Язык: Английский