MELBOURNE: The discovery of a new gene, which causes a previously unrecognised neurodevelopmental disorder, is now providing answers for the families of those impacted.
University of Otago biochemistry researcher and Neurological Foundation First Fellowship postdoctoral fellow Dr Meghan Mulligan said the study was an international collaboration between researchers at Otago and in the Netherlands, that centred on the ELAVL2 gene.
Before the research, the gene was known to have an important role in helping influence brain development, but it had not been connected with causing a genetic condition.
Using international gene databases, the study brought together people from all over the world who had genetic changes in ELAVL2 and similar medical features, such as developmental delay and intellectual disability.
Dr Mulligan said neurodevelopment depended on precise orchestration of the dosage, location and timing of gene expression.
The researchers were able to demonstrate that some alterations in the ELAVL2 gene could alter biological activity.
“We have now discovered variants in this gene are the cause of a previously undefined ELAVL2-related neurodevelopmental disorder.
“The work has helped provide answers for 15 individuals and families who were part of the research, and has the potential to help many more.”
She said the discovery would not only help those families involved in the study, it would also open up a new diagnostic pathway for other families with rare and previously unexplained neurodevelopmental disorders.
“Diagnostic labs globally will be able to use our finding to help other families searching for an answer, to potentially receive a genetic diagnosis in a much shorter timeframe.”
Dr Mulligan is continuing investigations into the ELAVL family of genes and their involvement in neurodevelopment and disease.
“I’m looking at how changes in other ELAVL genes — which are vital for healthy brain function — may cause similar neurodevelopmental disorders.
“By identifying the genetic causes of these disorders, families receive answers and can get more personalised support and clinical care.”