Making the most of mutation

A disease-causing mutation has been shown to increase the efficiency of human stem cell generation, offering insight into the cellular reprogramming process.

An international team including researchers at Japan’s University of Tsukuba grew stem cell cultures using cells from patients with a genetic disorder in which fibrous tissues, such as muscle or tendon, transform into bone. The disorder has been linked with a mutation causing overactivation of a signalling pathway related to stem cell self-renewal.

The team also generated stem cells from healthy cells by introducing the mutation or artificially activating the signalling pathway during the early phases of the reprogramming process. With these cultures, they discovered that the signalling pathway activates genes which inhibit differentiation and suppress another gene related to cellular ageing.

In addition to improving our understanding of this disorder, the findings also demonstrate that stem cells derived from disease cells can shed light on cellular programming.