Taurine 8 pp 153-165 | Cite as

Taurine Deficiency and MELAS Are Closely Related Syndromes

  • Stephen W. SchafferEmail author
  • Chian Ju Jong
  • Danielle Warner
  • Takashi Ito
  • Junichi Azuma
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 776)


MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is a mitochondrial disease caused by one or more mutations of tRNALeu(UUR). These mutations reduce both the aminoacylation of tRNALeu(UUR) and a posttranslational modification in the wobble position of tRNALeu(UUR). Both changes result in reduced transcription of mitochondria-encoded proteins; however, reduced aminoacylation affects the decoding of both UUG and UUA while the wobble defect specifically diminishes UUG decoding. Because 12 out of the 13 mitochondria-encoded proteins are more dependent on UUA decoding than UUG decoding, the aminoacylation defect should have a more profound effect on protein synthesis than the wobble defect, which more specifically alters the expression of one mitochondria-encoded protein, ND6. Taurine serves as a substrate in the formation of 5-taurinomethyluridine-tRNALeu(UUR); therefore, taurine deficiency should mimic 5-taurinomethyluridine-tRNALeu(UUR) deficiency. Hence, the wobble hypothesis predicts that the symptoms of MELAS mimic those of taurine deficiency, provided that the dominant defect in MELAS is wobble modification deficiency. On the other hand, if the aminoacylation defect dominates, significant differences should exist between taurine deficiency and MELAS. The present review tests this hypothesis by comparing the symptoms of MELAS and taurine deficiency.


Respiratory Chain Activity Taurine Treatment Renal Defect Puromycin Aminonucleoside Taurine Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Stephen W. Schaffer
    • 1
    Email author
  • Chian Ju Jong
    • 1
  • Danielle Warner
    • 1
  • Takashi Ito
    • 2
  • Junichi Azuma
    • 2
  1. 1.Department of PharmacologySchool of Medicine, University of South AlabamaMobileUSA
  2. 2.Hyogo University of Health Sciences, School of PharmacyKobeJapan

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