The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

@article{Sasarman2015The3A,
  title={The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.},
  author={Florin Sasarman and Isabelle Thiffault and Woranontee Weraarpachai and Steven N Salomon and Catalina Maftei and Julie L Gauthier and Benjamin Ellazam and Neil Webb and Hana Antonicka and Alexandre Janer and Catherine Brunel-Guitton and Orly Elpeleg and Grant Mitchell and Eric A Shoubridge},
  journal={Human molecular genetics},
  year={2015},
  volume={24 10},
  pages={2841-7}
}
Addition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3' end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions in both the cytoplasm and mitochondria. Exome sequencing revealed TRNT1 mutations in two unrelated subjects with different clinical features. The first presented with acute lactic acidosis at 3 weeks of age and developed severe developmental delay, hypotonia, microcephaly, seizures… CONTINUE READING
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