Biologists at Tsukuba University have produced the first animal model of mitochondrial disease, paving the way for research into human diseases, such as some forms of paralysis and kidney failure, that are caused by mutations in mitochondrial DNA.
Mitochondria are the power plants inside our cells that fuel all biochemical reactions. Most genetic diseases arise from mutations in the human genome, stored in the nucleus of each cell and known as nuclear DNA. Many of these diseases have been studied by inserting the relevant bit of faulty DNA into the nuclear DNA of an animal model, such as a mouse.
Mitochondria, however, have their own DNA. Until now it has not been possible to make animal models of mitochondrial DNA disorders because unlike with nuclear DNA, scientists were unable to insert sections of DNA into mitochondria. It is this breakthrough that has been made by Junichi Hayashi and colleagues and published this week in Nature Genetics.