What does the DNM1 gene do?
The DNM1 gene and its mutation are a compelling candidate gene and causal mutation for EIC due to the critical role of the dynamin 1 protein in synaptic communication between nerves in the central nervous system and between nerve and muscle at the neuromuscular junction. Specifically, both nerve and neuromuscular synaptic transmission requires the fusion of small intracellular synaptic vesicles containing neurotransmitter with the nerve cell membrane. The neurotransmitters are then released and diffuse to the adjacent neuron or muscle fiber and trigger a response (either nerve signal propagation or muscle contraction). T he dynamin 1 protein normally functions to help reform new synaptic vesicles from the membrane. These reformed vesicles can again be filled with neurotransmitter to enable synaptic transmission to be sustained. Dynamin 1 is particularly critical to synaptic vesicle formation during times of high stimulation when synaptic vesicle use is very high. We hypothesize that th
