Role of RRP7A Gene in Brain Development Studied

An international research team has identified the role of the RRP7A gene in the development of the cerebral cortex. Their study was published in Nature Communications. 

The scientists—led by a team at the University of Copenhagen in Denmark—started with genetic analyses of a large family in which children were born with primary microcephaly. They found that the children were carriers of a mutation in both copies of the gene, RRP7A, and by the use of stem cell cultures as well as zebrafish as model organism, RRP7A was shown to play a critical role for brain stem cells to proliferate and form new neurons. This process is extremely complex and slight disturbances may have serious consequences, which may explain why the mutation affects the brain and no other tissues and organs.

"Our discovery is surprising, because it reveals hitherto unknown mechanisms involved in the development of the brain. In addition, it highlights the value of research in rare disorders, which is important both for the patients and family affected by the disease but also beneficial for society in the form of new knowledge about human biology," states researcher Lars Allan Larsen. 

The researchers also discovered that the mutation in RRP7A affects the function of primary cilia, which project in a single copy as antenna-like structures on the surface of cells to register environmental cues and control the formation of new neurons in the developing brain.