Article

MTERF1 loss buffers against pathogenic mtDNA deletions through transcriptional regulation

2026-07-17

Abstract excerpt

Large-scale mitochondrial DNA (mtDNA) deletions cripple oxidative phosphorylation once they exceed a critical heteroplasmy threshold, causing incurable mitochondrial pathologies. Using a genome-wide CRISPR/Cas9 screen in an engineered human cell line carrying a large-scale mtDNA deletion at high heteroplasmy, we identified mitochondrial transcription termination factor 1 (MTERF1) as a suppressor of the heteroplasm...

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Literature Corpus work: 691f112c-de5f-5308-9412-75da2f028162
DOI: 10.64898/2026.07.16.738964

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