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  • Title: Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.
    Author: Mimaki M, Hatakeyama H, Ichiyama T, Isumi H, Furukawa S, Akasaka M, Kamei A, Komaki H, Nishino I, Nonaka I, Goto Y.
    Journal: Mitochondrion; 2009 Apr; 9(2):115-22. PubMed ID: 19460299.
    Abstract:
    Two novel mitochondrial DNA base changes were identified at both sides of the 3243A>G mutation, the most common mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). One was a 3244G>A transition in a girl with MELAS. The other was a 3242G>A transition in a girl with a mitochondrial disorder without a MELAS phenotype. Although the two base changes were adjacent to the 3243A>G mutation, they had different effects on the clinical phenotype, muscle pathology, and respiratory chain enzyme activity. Investigations of the different effects of the 3244G>A and 3242G>A base changes may provide a better understanding of tRNA dysfunction in mitochondrial disorders.
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