Funding outcome

The prevalence of autism has risen to 1 in 54 children; however, the root causes are poorly understood. Autism is associated with altered brain development in children 1-3 years old. Early intervention can lessen the impacts in terms of learning and socialization. Autism is clearly linked to specific genetic variants and it is more common in some families than others. However, linking any one specific gene mutation to autism has been exceedingly difficult and inaccurate, suggesting that many different gene mutations contribute to causing autism in children. Over the past decade, families with autistic children have volunteered to have their DNA analyzed to identify genetic mutations that are linked to autism. One of the genes commonly mutated in one type of autism is Peroxin7. This gene contains instructions to help form peroxisomes that are within all our cells. Peroxisomes help process fat molecules. However, most gene mutations that affect peroxisome function do not cause autism but rather lead to severely abnormal brain development and early death in children and as such literature on the association is scarce. Thus, we need to understand how the autism-causing mutations of Peroxin7 are special in terms of their effect on peroxisomes and brain development. By precisely knowing how the Peroxin7 mutations cause autism, we can diagnose the condition earlier and modify infant diets as an early treatment strategy. These types of mutations are difficult to study in humans or even in lab animals like mice. We model peroxisomal diseases in a very simple laboratory animal, the fruit fly, and will use our fly model to dissect the role of Peroxin7 during early brain development.