Neugeborenen- und Kindermedizin

Abstrakt

GPR56: Its Regulation in GABAergic Neurons and Possible Involvement in Neuro Developmental Disorders

Ayako Y Murayama, Hideyuki Okano

One-third of patients with epilepsy have intractable seizures that cannot be controlled with any currently available antiepileptic drugs . It has been well known that there are patients afflicted with epilepsy with mutations in some G protein-coupled receptors (GPCRs). Patients with the 15-bp deletion within the upstream region of non-cording exon 1m of human G protein-coupled receptors 56 (GPR56) gene exhibit cortical malformation and develop young-onset epilepsy. In our recent report , to understanding the mechanism underlying the etiological role of this 15-bp deletion , we examined the function of a cis-regulatory element containing this 15-bp in the control of expression pattern of GPR56 using marmoset as a nonhuman primate animal model. We showed that the cis-regulatory element drives expression of GPR56 preferentially in GABAergic neurons in developing brain and suggest that pathogenic mechanisms of epilepsy in patients with a 15-bp deletion may be explained in part by the developmental abnormality or dysfunction of GABAergic neurons.