Kurenai Tanji

TL;DR: It is concluded that primary LAMP-2 deficiency is the cause of Danon disease and this is the first example of human cardiopathy–myopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein.

TL;DR: Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cy tochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane and mutations in the human homologue, SCO2, in three unrelated infants with a newly recognized fatal cardioencephalomyopathy and COX deficiency are identified.

TL;DR: The sporadic form of mitochondrial myopathy is associated with somatic mutations in the cytochrome b gene of mtDNA, one cause of the common and often elusive syndrome of exercise intolerance.

TL;DR: The tRNASer(UCN) gene may be a "hot spot" for mutations associated with maternally transmitted hearing loss in members of a large African American family.

TL;DR: The patterns of reduced expression of both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) encoded genes is consistent with a physiological down-regulation of the mitochondrial respiratory chain in response to reduced neuronal activity.