In a "very exciting finding", researchers at California's Salk Institute have discovered a difference between the way nerve cells develop in people who have autism spectrum disorder (ASD) and those who don't. The researchers hope their study will contribute to a better understanding of why ASD develops, helping to create better diagnostic techniques and treatments.
ASD is a disability that impacts how people communicate and interpret the feelings and behaviors of others, as well as how they experience the world around them. Most commonly diagnosed in children, particularly boys, it impacts one in every 59 kids in the US. There is currently no cure and the exact cause or causes of the condition are still unclear – both genetics and hyperconnectivity within the brain are believed to play a role.
“It’s currently hypothesized that abnormalities in early brain development lead to autism, but the transition from a normally developing brain to an ASD diagnosis is blurred,” said Simon Schafer, a postdoctoral fellow at the Salk Institute, in a statement. “A major challenge in the field has been to determine the critical developmental periods and their associated cellular states. This research could provide a basis for discovering the common pathological traits that emerge during ASD development.”
To look at how nerve cells, aka neurons, develop in people with ASD, the researchers took skin cell samples from eight people with ASD and five people without the condition and transformed them into pluripotent stem cells. These are stem cells with the ability to turn into any type of cell in the body. By exposing the cells to certain chemicals, the team could then direct them to develop into neurons.
They then used molecular "snapshots” to look at genetic activity in the cells at different developmental stages by analyzing their RNA (a molecule mainly involved in protein production that can contain genetic information). They took a look at the cells at five different points and found something interesting early on in their development.