Investigators: Alexander Larcombe, David Martino, Martyn Symons, Mitchell Bestry
External collaborators: Ryan Lister (University of Western Australia), Sam Buckberry (Harry Perkins Institute)
Fetal alcohol spectrum disorder (FASD) is a relatively prevalent and severe disorder of brain development that occurs as a result of exposure to alcohol in the womb. Impairments in memory, attention, language and executive function in FASD children are often under-recognized and not managed appropriately by various health and education agencies. This is largely because there are not objective lab tests that can identify children at risk of FASD, no biomarkers of exposure. Diagnosis relies on evidence of cognitive deficits with a confirmed history of alcohol exposure in the womb. In many cases (foster care, juvenile detention) contact with parents is not possible, which denies appropriate support to many affected children.
This study aims to discover new markers on DNA that can help identify children with FASD by providing an objective measure of specific genes in brain development pathways that are affected. We are also trialling a simple dietary strategy to help protect against harmful alcohol exposure around conception.
New evidence suggests that epigenetic factors may be among the important mechanisms underlying FASD. Although the genetic code is spelled out at conception, people retain a level of flexibility about which genes are active or suppressed in different tissues through epigenetic changes to DNA. These processes play a critical role in normal fetal development and are dependent upon adequate levels of dietary methyl donors (for example: folic acid and choline) in pregnancy. New evidence suggests chronic exposure to alcohol affects metabolism of methyl donors (one-carbon metabolism), thereby disrupting the substrates needed for epigenetic control of fetal development.
The outcomes from this project aim to take the first steps toward developing a simple lab test that can identify children at risk of FASD early, to allow early intervention and support where appropriate. It will also provide foundational evidence for simple dietary interventions to mitigate the risks of FASD.