What we are studying

The Massachusetts General Hospital (MGH) is conducting a study investigating proteins called histone deacetylases (HDACs) in the brains of adults with and without autism spectrum disorder (ASD) using positron emission tomography (PET)-magnetic resonance imaging (MRI) scans. HDACs are important for turning genes on/off. We will ask participants to undergo a PET-MRI brain scan.

Why it is important

One in 44 school-aged children are diagnosed with autism spectrum disorder (ASD) and these children will encounter challenges with social interaction and communication throughout their entire lives.

The causes of ASD are still unknown; there are no biomarkers for ASD and no treatments that consistently lead to improvements in symptoms. Numerous genes have been associated with ASD, but each gene only appears to explain a very small percentage of ASD cases. Similarly, a number of environmental theories for ASD have been brought forward, but so far, they have not explained a large portion of ASD or a subtype thereof.

It has been proposed that gene-environment interactions contribute to ASD but the mechanisms for such processes are still unknown. Epigenetics represents a mechanism through which environmental factors can turn genes on and off without changing the DNA code itself. Research in this area may lead to a better understanding of the underlying causes of ASD, which in the future may lead to new treatment options for individuals with ASD who would like to have these options.

What we hope to accomplish

Through this research study, we hope to better understand epigenetic mechanisms, specifically HDACs in the brains of individuals with and without ASD. By measuring levels of HDACs in the brain we aim to identify epigenetic processes that may associated with ASD.