Inborn error of tRNA formylation

Posted by & filed under New IEM.

Tucker EJ, et al. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Cell Metab. 2011 Sep 7;14(3):428-34

Next-generation sequencing of nuclear-encoded mitocondrial proteins in two unrelated patients with Leigh syndrome and combined OXPHOS deficiency revealed a new inborn error of formylation. This study by the groups of David Thorburn and Vamsi Mootha demonstrates that efficient formylation of Met-tRNA Met is necessary for proper translation initiation in the mitochondria.

Posted by Philippe Campeau, MD

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