Taurine deficiency and MELAS are closely related syndromes.

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