Dr. Annie Ciernia’s lab is investigating the role of epigenetics in autism spectrum disorder

Dr. Annie Ciernia's Lab is studying epigenetics to understand how environmental influences impact neurodevelopmental disorders, especially autism spectrum disorder.

Her interest in cognitive function and its regulation in autism gradually expanded to studying genes responsible for particular disorders and their importance in regulating brain function. Ciernia, an assistant professor in the department of biochemistry and molecular biology and a member of the Djavad Mowafaghian Centre for Brain Health, shared the nuances of her research into how epigenetics relate to autism spectrum disorder.

Epigenetic basis of autism

Epigenetic mechanisms are based on changes to how genes are expressed or used in the body, without actually changing the DNA sequence itself. These changes are impactful: epigenetics can influence how our cells function, impact the risk of developing diseases like cancer and even explain how experiences can impact physiology across generations.

In neurodevelopmental disorders, epigenetic processes are disrupted. Autism spectrum disorder is a neurodevelopmental disorder made distinctive by altered social communication and language, repetitive behaviours and often immune system disruption.

Ciernia’s lab investigates both genetic and environmental autism risk factors and has successfully identified two genes associated with autism. One regulates synapses, sites of communication between brain cells, and the other controls chromatin, a protein that associates with DNA to help it organize itself and a crucial epigenetic mechanism.

The Ciernia lab set out to explore how these genes influence autism spectrum disorder using a mouse model. “Mice are very social, just like humans and we can look at how the autism gene mutations alter their social preference,” said Ciernia.

While behaviours indicative of autism can include repetitive self-injury and repetitive play in children, it can be observed as repetitive grooming and obsessive digging in mice.

Microglia as a focus

Dysregulated immune response factors such as inflammation in pregnancy can increase the risk of having a child with a neurodevelopmental disorder, said Ciernia.

To better understand this, the Ciernia lab is looking at resident immune cells in the brain called microglia. Unlike other brain cells, which have a common precursor cell, microglia come from the yolk sac and enter the blood during early embryonic development.

Microglia are crucial in shaping how neurons “talk to each other” across development, according to Ciernia. As microglia respond to inflammatory stimuli in the womb and shortly after birth, perturbations during developmental years can result in lifetime impacts.

A study published by Ciernia’s group looked at microglia in the brain of mice born to mothers with asthma as a model chronic illness. The resulting pups scored high for behaviours associated with autism spectrum disorder, and epigenetic differences were seen in genes linked to inflammation and microglial development. Her team is committed to building upon this research.

Embracing neurodiversity

Keeping the diversity and needs of children in mind, Ciernia doesn’t believe in curing neurodevelopmental disorders and emphasized the importance of neurodiversity.

“The problem is not with people with autism. And I think all of us are a little bit different and special and we should recognize and celebrate that,” said Ciernia.

The focus is on making things easier for those with autism. She prefers to talk about making environments more amenable to neurodiverse people.

“My lab focuses on trying to understand when brain development is disrupted enough to cause impairments, and how can we help them to adapt and thrive.”

This article is part of The Ubyssey's neuroscience supplement, Big Brain Time. Pick up our latest print issue on campus to read the full supplement.