Gene linked to infant mortality identified

Dr Pleasantine Mill (MRC Human Genetics Unit) has identified a gene, involved in brain development, which can lead to disability and death in infants. The condition has been named PLAA-associated neurodevelopment disorder (PLAAND), following the discovery of the gene PLAA. The researchers involved created a mouse with a mutation to the PLAA gene to demonstrate how this gene has to function properly for a healthy brain to develop. They belive that PLAA is essential for signalling cells to clear build-up of damaged proteins, which is crucial for brain cell function.

Dr Pleasantine Mill, of the University of Edinburgh’s MRC Human Genetics Unit, said: “Pinpointing mutations in this gene that lead to such severe outcomes in the affected children is an important advance. Children affected with PLAAND die before the age of six and most heart-breaking for their families is that they fail to meet any developmental milestones. There is no treatment currently available. In identifying this gene and the processes it controls, we have made significant steps in understanding its role in healthy brain development, which will help us target drug studies in future.”