| First Author | Shimizu A | Year | 2015 |
| Journal | Biochem Biophys Res Commun | Volume | 467 |
| Issue | 4 | Pages | 1097-102 |
| PubMed ID | 26381171 | Mgi Jnum | J:346184 |
| Mgi Id | MGI:7614983 | Doi | 10.1016/j.bbrc.2015.09.072 |
| Citation | Shimizu A, et al. (2015) Mouse somatic mutation orthologous to MELAS A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene confers respiration defects. Biochem Biophys Res Commun 467(4):1097-102 |
| abstractText | We searched for mtDNA harboring somatic mutations in mouse B82 cells, and found an A2748G mutation orthologous to the A3302G mutation in tRNA(Leu(UUR)) gene reported in a patient with MELAS, the most prevalent mitochondrial disease. We isolated subclones of B82 cells until we obtained one subclone harboring >95% A2748G mtDNA. Cytoplasmic transfer of A2748G mtDNA resulted in cotransfer of A2748G mtDNA and respiration defects into mouse ES cells. Thus, A2748G mtDNA is responsible for respiration defects, and the ES cells harboring A2748G mtDNA may be useful for generation of transmitochondrial mice harboring A2748G mtDNA as potential disease models of MELAS. |
