A study aimed at detecting the genetic triggers of autism spectrum disorder has uncovered a new gene mutation, which could lead to better diagnosis and treatment outcomes.
The investigation was led by Associate Professor Julian Heng from the Harry Perkins Institute of Medical Research, who heads the Brain Growth and Disease Laboratory.
The research revealed a connection between autism spectrum disorder and mutations to a gene known as DENR. Associate Professor Heng said the research involved two unrelated patients with autism spectrum disorder, each had different genetic mutations that changed the way the DENR gene functioned.
The study found that foetal brain development seems to be disrupted by the DENR gene malfunction, which appears to affect the assembly of neural circuits in the brain.
Associate Professor Heng said that by uncovering the ways genes such as DENR shapes brain development, it is hoped that scientists might be able to recognise how the autistic brain is unique.
"By recognising what is unique amongst children with an autism spectrum disorder, it will enable us to diagnose autism earlier and intervene earlier. We know that early intervention is critically important to the management of mental health conditions such as autism," Associate Professor Heng said.
"Finding the genetic triggers of brain developmental disorders helps us identify what typically occurs during brain assembly and what are the most important elements required for a great start to life and good mental health." Associate Professor Heng said this sort of research can improve the genetic diagnostic precision for autism, and can also lead to innovative treatments in coming years.
"We believe that by studying genes such as DENR in the context of brain development, we might be able to tinker with this element to improve our mental health," Associate Professor Heng said.
This study involved research teams from Germany, Austria and the United Kingdom and was published this week in the prestigious journal Cell Reports.
Article: De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation, Julian I.-T. Heng et al., Cell Reports, doi: 10.1016/j.celrep.2016.04.090, published 26 May 2016.