Hirofumi Nakase

TL;DR: It is concluded that deletions of muscle mitochondrial DNA are associated with ophthalmoplegia and may result in impaired mitochondrial function, however, the precise relation between clinical and biochemical phenotypes and deletions remains to be defined.

TL;DR: Large-scale deletions in muscle mitochondrial DNA (mtDN A) in seven of seven patients with Kearns-Sayre syndrome (KSS) bolster arguments that KSS is a unique disorder and genetic in origin.

TL;DR: In this article, the authors found that homologous recombination deleting large regions of intervening mitochondrial DNA, which previously had been observed only in lower eukaryotes and plants, operates in mammalian mitochondrial genomes as well, and is at least one cause of the deletions found in these two related mitochondrial myopathies.

TL;DR: It is suggested that IFNβ-1b may trigger severe exacerbation in patients with the NMO spectrum and cases in N MO spectrum should be carefully excluded in INFβ- 1b therapy.

TL;DR: Transcriptional analysis shows that an mRNA identical with the isolated cDNA is present in abundant amounts not only in human and monkey liver tissue, but in heart and skeletal muscle as well, tissues not known previously to contain this isoform of COX VIII.