In 1966, Francis Crick predicted that the first anticodon (“wobble”) nucleotide recognizes the third codon nucleotide through non-canonical Watson–Crick geometry. To date, post-transcriptional modifications in tRNAs are thought to play critical roles in deciphering the genetic code. In MELAS patients harbouring the A3243G-mutant mitochondrial DNA, post-transcriptional taurine modification at the wobble nucleotide is deficient in the mutant mitochondrial (mt) tRNALeu(UUR). Here, we show that addition of taurine to culture media ameliorated reduced oxygen consumption, decreased mitochondrial membrane potential, and increased oxidative stress in MELAS patient-derived pathogenic cells. Moreover, high dose oral administration of taurine (0.25 g/kg/day) completely prevented stroke-like episodes in two MELAS patients for more than nine years. These findings provide a new insight into our understanding of MELAS as putative RNA-modification disorders that lack the wobble taurine modification. The oral administration of taurine may be an effective therapy for MELAS.
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© 2013 Published by Elsevier Inc.