Brain Development Hanging in the Balance

The brain is formed by billions of neurons that communicate with each other via trillions of specialized communication machines called synapses. These large numbers are even more intriguing if we consider that neurons typically receive two very different types of synapses - excitatory signals that promote neuronal activity, and inhibitory signals that supress it. I will discuss how a balance between these two signals is important for keeping the brain stable, allowing it to work efficiently. I will also consider the role this balance may play in neurodevelopmental disorders.

Brain development is an intricate process involving many proteins, all doing specific jobs. Some proteins operate by changing the structure of other proteins, which alters their function. When mutations happen in one of these regulator proteins, brain development is drastically altered. Patients with these mutations develop severe seizures in infancy and cannot walk or talk. Our lab's work focuses on this protein called CDKL5. I will explain what our lab has discovered about how this protein regulates brain development.