Biochemical and Biophysical Research Communications
Regular ArticleAccumulation of mtDNA with a Mutation at Position 3271 in tRNALeu(UUR) Gene Introduced from a Melas Patient to HeLa Cells Lacking mtDNA Results in Progressive Inhibition of Mitochondrial Respiratory Function
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MERRF Classification: Implications for Diagnosis and Clinical Trials
2018, Pediatric NeurologyIdentification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome
2017, MitochondrionCitation Excerpt :Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS, MIM 540000) are a genetically heterogeneous disorder with varying clinical phenotypes. The main underlying causes of the MELAS have been reported as mutations in MTTL1 including m.3243A > G (Goto et al., 1990; Goto, 1995; Hayashi et al., 1993; Sato et al., 1994). In addition, mutations in the MTND1, MTND5, MTND6, MTTQ, MTTH, MTTK, MTTC, MTTS1, and MTTS2 have also been reported to cause MELAS (Corona et al., 2001; Kirby et al., 2004; Santorelli et al., 1997).
Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsNormal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A→G
2007, American Journal of Human GeneticsGeneration of Transmitochondrial Mice: Development of Xenomitochondrial Mice to Model Neurodegenerative Diseases
2007, Methods in Cell BiologyCitation Excerpt :To circumvent problems associated with variability and instability of mitochondrial populations in heteroplasmic cells, microinjection can be carried out in ρ0 cells, which contain no mtDNA and require uridine and pyruvate in culture media for their survival (King and Attardi, 1989). Previous studies revealed that human cybrid cell lines containing mutant mtDNA for a number of mtDNA‐related diseases could be produced by introduction of isolated patient mitochondria into ρ0 cells (Chomyn et al., 1991; Hayashi et al., 1991, 1993; Trounce et al., 1994, and in many reports since). To develop transmitochondrial mice, we would take advantage of breakthroughs in embryonic stem (ES) cell‐based technologies and the work of Levy et al. (1999), where ES cells were used to transfer a foreign mitochondrial genome into mouse blastocysts and immortalized human and mouse ρ0 cell lines (Bai and Attardi, 1998; King and Attardi, 1989; Trounce et al., 2000).