Congenital heart disease is the most common congenital disorder in newborns. Defects can range from simple to complex and can occur alone or in groups, depending on how the heart has developed.

Whilst the cause is often not known, these disorders can be caused by mutations in a particular family of proteins known as ZIC transcription factors.

Experts from the John Curtin School of Medical Research have published research today that increases our understanding of how the ZIC proteins work and suggests why they might cause congenital diseases.

“We have long known that mutations in the family of ZIC proteins lead to congenital defects” explains Professor Arkell.

“But we do not yet know how or why this is the case.”

“This new experimental system provides insights into how these proteins work, and why the mutations found in children may be disrupting the function of the proteins.”

The focus of Professor Arkell’s research is early mammalian development, in particular the process where a group of cells becomes an embryo. This is a defining process in growth and development, known as gastrulation.

Understanding the protein interactions during gastrulation gives us insight into health and disease.

“We have developed an assay in the laboratory that provides more certainty about the role of ZIC mutations, and how these affect the way the proteins work and interact.”

“There is more that we could learn about every protein” says Professor Arkell.

The research has been published today in Scientific Reports.