Drosophila model for Rolandic epilepsy

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Human SRPX2 gene is responsible for the congenic Rolandic epilepsy and oral dyspraxia. To understand the molecular mechanism underlying these genetic defects, we study Drosophila as a model system, because a variety of genetic tool is available.As the Drosophila hig gene is similar to SRPX2 in domain organization, hig is the target of our genetic analysis. The encoded protein Hig is extracellularly secreted and specifically localized to the synaptic cleft of cholinergic synapse in the brain. The absence of Hig results in reduced locomotion and longevity, and also causes a decrease in the amount of acetylcholine receptor subunits Da6 and Da7 in the synaptic regions. Thus, Hig regulates the organization of cholinergic synaptic structure. This finding indicates a possible avenue for understanding the mechanisms underlying Rolandic epilepsy in the human brain, and also for providing insights into how extracellular matrix proteins organize synaptic structures.