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. 2015 Jul 21;72(21):4027–4047. doi: 10.1007/s00018-015-1985-0

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© The Author(s) 2015

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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Fig. 3 — Mutations in the tRNA biosynthesis pathway that lead to neurodegeneration. The point mutation (50C>T) in the T loop of one tRNA isoacceptor for arginine (Arg) provokes neurodegeneration. Another described point mutation (4274T>C) in the mitochondrial tRNA for isoleucine (Ile) has also been associated with motor neuron disease (a). Following transcription, the 5′ leader sequence of the pre-tRNA is removed by RNAseP, the 3′ end is processed by RNAse Z and the trinucleotide CCA is added to the 3′ end by a nucleotidyl transferase (b). Different bases of the RNA transcript can undergo chemical modifications (c). The introns of the pre-tRNA are spliced out by a tRNA splicing endonuclease (TSEN). Mutations in these enzymes have been associated with pontocerebellar hypoplasia (PHC) and mutations in their co-factor CLP-1 with motor neuron loss (d). Finally, the mature tRNA is loaded with an amino acid (aa) via tRNA synthetases (e)