人類遺伝学と発生学

PRRT2 Mutations and PRRT2 Disorders

Abstract

Hong-Fu Li and Zhi-Ying Wu

The recent discovery of PRRT2 mutations in Paroxysmal Kinesigenic Dyskinesia (PKD) has spurred a number of studies on PRRT2 mutations and PRRT2 disorders including PKD, Benign Familial Infantile Epilepsy (BFIE), and Infantile Convulsions with Choreoathetosis (ICCA). Mutated PRRT2 is also implicated in several other paroxysmal neurological disorders, indicating a wide phenotypic spectrum of PRRT2 mutations. Although the correlations between PRRT2 mutations and specific phenotype have not been well investigated, our previous studies have shown that PRRT2 mutations carriers may have a distinct clinical feature and drug response with non-PRRT2 mutations carriers. Yeast two-hybrid studies have suggested that PRRT2 interacts with synaptosomal associated protein 25 (SNAP25), which is involved in synaptic vesicle handling and neuronal exocytosis. Therefore, the pathogenesis of PRRT2 disorders is probably associated with synaptic dysfunction. Further studies are needed to elucidate the role of PRRT2 and the potential mechanism of PRRT2 disorders.