Genetically altering proteins could inform treatment development for children with epilepsy

Researchers funded in part by the McLaughlin Centre have uncovered how a molecular mechanism could inform new therapeutic targets for treatment-resistance epilepsy, autism spectrum disorder (ASD) and other neurodevelopmental conditions.  

In a study published in Cell Reports, researchers led by Dr. Yun Li, Assistant Professor of Molecular Genetics and a 2023 McLaughlin Centre Accelerator Grantee, show that by genetically altering specific proteins, they may be able to reduce the impact of certain neurological conditions, including epilepsy, and potentially improve outcomes for patients. “Our research findings could change the way we approach managing neurodevelopmental conditions such as treatment-resistant epilepsy,” Li says.

There are two protein complexes that regulate brain cell growth and electrical activity: mTORC1 and mTORC2. Previously, scientists thought these two complexes had distinct roles in controlling different aspects of cell growth and electrical activity, but Li’s team wanted to dive in further. “Previous pre-clinical models showed that both mTOR complexes need to be inhibited to relieve symptoms, while our current study is the first in human brain cells to show that genetically modifying just one complex can be highly beneficial,” Li says. “These molecular targets could be used to tailor future treatment options, and ultimately benefit patients.” 

Future research from Li’s lab will explore the implications of these findings on other neurodevelopmental conditions characterized by the same protein pathway, such as tuberous sclerosis and fragile X syndrome. READ MORE