November 5, 2018

Development of a Zebrafish Model to Study Childhood Epileptic Encephalopathy Caused by Dynamin 1 (DNM1) Mutations

Next generation sequencing (NGS) technology has led to the identification of causal genes in epileptic encephalopathies. Recently, mutations in the DNM1 gene encoding dynamin 1 (OMIM: 602377) have been recognized to cause early infantile epileptic encephalopathy-31 (OMIM: 616346). While recent studies have provided insights into dynamin-1 structure and function, it is still unclear how the de novo missense mutation in DNM1—a core component of postsynaptic endocytosis machinery—leads to early epileptic encephalopathy (EE).

It is critical to use valid animal models in our effort to understand the pathophysiology of EE caused by DNM1 mutations. The zebrafish is an alternative model system with substantial benefits which is now widely used to study the pathophysiology of human Mendelian disorders, develop cost-efficient breeding, and practice in vivo drug discovery.

Related News