Doctor Gul Dolen defines synapse-opathies as disease where the synapse is the part of the brain that is disrupted. Fragile X and autism are examples.

A synapse-opathy is a disease where the synapse is the part of the brain that is disrupted. Synapses are the place where neurons communicate with one another. They are microscopic junctions where neurotransmitters are released from one neuron’s axon and the post-synaptic neuron’s dendrites have these small protrusions called synaptic spines, and they are the receiving half of the synapse. Those synapses have receptors, and those receptors receive and transmit the chemical signals, the neurotransmitters. Those synapses are thought to be the unit of mass signal across neurons. So a synapse-opathy is a disease that affects those synapses, and we’ve defined Fragile X and autism as synapse-opathies because we’ve known for a number of years that patients with mental retardation and autism have disruptions in those dendritic spines and so they look different, there are more of them, in some cases there are less of them, in some cases they are longer and skinnier, in some cases they are shorter and fatter. In fact we think that plasticity of those synapses is what’s accounting for Fragile X and autism and that it serves as a way to think about the diseases rather than, for example, Parkinson’s disease. We think of it as primarily a disease of the dopamine neurons in a very specific part of the brain, whereas autism seems to affect the whole brain. There isn’t one specific brain region that is by itself involved. But synapses exist across the whole brain and so if the unit of disruption is the synapse, we call it a synapse-opathy.

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