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Taurine Deficiency and MELAS Are Closely Related Syndromes

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Taurine 8

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 776))

Abstract

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.

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Abbreviations

MELAS:

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

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Authors and Affiliations

  1. Department of Pharmacology, School of Medicine, University of South Alabama, Mobile, AL, USA

    Stephen W. Schaffer, Chian Ju Jong & Danielle Warner

  2. Hyogo University of Health Sciences, School of Pharmacy, Kobe, Japan

    Takashi Ito & Junichi Azuma

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  1. Stephen W. Schaffer
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  4. Takashi Ito
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  5. Junichi Azuma
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Correspondence to Stephen W. Schaffer .

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  1. City University of New York, Center for Developmental Neuroscience, College of Staten Island, 2800 Victory Blvd, Staten Island, 10314, New York, USA

    Abdeslem El Idrissi

  2. City University of New York, Department of Biology, College of Staten Island, Victory Blvd 2800, Staten Island, 10314, New York, USA

    William J. L'Amoreaux

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Schaffer, S.W., Jong, C.J., Warner, D., Ito, T., Azuma, J. (2013). Taurine Deficiency and MELAS Are Closely Related Syndromes. In: El Idrissi, A., L'Amoreaux, W. (eds) Taurine 8. Advances in Experimental Medicine and Biology, vol 776. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6093-0_16

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