Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders
2009; Elsevier BV; Volume: 9; Issue: 2 Linguagem: Inglês
10.1016/j.mito.2009.01.005
ISSN1872-8278
AutoresMasakazu Mimaki, Hideyuki Hatakeyama, Takashi Ichiyama, Hiroshi Isumi, Susumu Furukawa, Manami Akasaka, Atsushi Kamei, Hirofumi Komaki, Ichizo Nishino, Ikuya Nonaka, Yu‐ichi Goto,
Tópico(s)ATP Synthase and ATPases Research
ResumoTwo 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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