Finding cures for children's genetic diseases


Nerve cells are the cells of the brain that send electrical signals to each other to control learning, memory and behaviour. They also send signals throughout the body to connect the brain with muscle and other organs.

Nerve cells send electrical signals in one direction: from the dendrite, through the body and down the axon to the nerve terminal at the end of the axon. The point at which the nerve terminal makes contact with other nerves or with muscles is called a synapse. A synapse is the point at which communication between cells occurs, or where instructions for muscle movement are transmitted.
Nerve cells communicate by transmitting an electrical signal from the nerve terminal of the signalling cell to the cell body of the receiving nerve cell or muscle. The electrical signal is transmitted by a chemical called a neurotransmitter. There are many neurotransmitters that perform different roles throughout the body. Glutamate, serotonin, and dopamine are examples of neurotransmitter.

Nerve cells contain neurotransmitter, which is packaged into synaptic vesicles that are stored in the nerve terminal.  A process of exocytosis and endocytosis allows a nerve cell to release neurotransmitter, which is detected by the receiving cell.

Every muscle movement or thought is the result of cell communication and requires the release and subsequent reception of neurotransmitter. Memory is also the result of nerve cell communication and relies on how much neurotransmitter is released across how many synapses, and where those synapses are located.
Conditions of the brain such as epilepsy, bipolar disorder, depression and possibly Alzheimer’s disease are caused by a malfunction of the cell communication process.
The Cell Signalling Unit and Protein Biochemistry Group at CMRI are dedicated to understanding the exact processes involved in cell communication, in order to find out how we can prevent or treat neurological disorders. They do this by discovering how our genes build a synapse and what the machinery is inside the nerve cells that allow them to work.
They have already made great strides in understanding the function of several proteins involved in cell communication. Recently they discovered that a protein called syndapin plays an important role in nerve cell communication. They are currently investigating the exact mechanism of syndapin function to possibly develop more specific and more effective therapeutic agents to treat epilepsy and possibly some mood disorders.