Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders |
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| Authors: | Masakazu Mimaki Hideyuki Hatakeyama Takashi Ichiyama Hiroshi Isumi Susumu Furukawa Manami Akasaka Atsushi Kamei Hirofumi Komaki Ichizo Nishino Ikuya Nonaka Yu-ichi Goto |
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| Affiliation: | 1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA;2. Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, Texas, USA;3. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA;4. Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA;5. Department of Medicine, Baylor College of Medicine, Houston, Texas, USA;6. Department of Pediatrics, Texas Children’s Hospital, Houston, Texas, USA;7. Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA;8. Human Genetics Center, University of Texas Health Science Center, Houston,Texas, USA;9. Texas Children’s Cancer Center, Texas Children’s Hospital, Houston, Texas, USA |
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| 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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