Human Molecular Genetics · 11 authors, 11 centres
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This study used patient-derived cells to show that trichothiodystrophy (TTD) is associated with decreased ribosomal translational fidelity, particularly when challenged with oxidized mRNA, which can be restored by treatment with N-acetyl cysteine.
The study investigated the pathomechanism of trichothiodystrophy (TTD) using patient-derived cell lines. Researchers demonstrated that TTD cells, but not xeroderma pigmentosum (XP) cells, exhibit reduced translational fidelity. The study found that ribosomal synthesis and maturation are affected in TTD, leading to unstable ribosomes. Isolated ribosomes from TTD patients showed an elevated error rate with oxidized mRNA, explaining cellular hypersensitivity to oxidative stress. Treatment of TTD cells with N-acetyl cysteine normalized the translational error rate. The study concludes that translational infidelity and loss of proteostasis may be a shared cellular pathomechanism in TTD and related progeroid syndromes like Cockayne syndrome.
