6th Symposium on ATP1A3 in Disease will be held in September 21 and 22, 2017 in Tachikawa, Tokyo, Japan
The 1st Symposium on ATP1A3 in Disease was held in Brussels, Belgium in December 2012, when it was first discovered that alternating hemiplegia of childhood (AHC) was caused by ATP1A3 mutations. Since then the symposiums have been held in Europe and the US. This is the first time that the symposium will be held in Asia. We hope that doctors and researchers who are interested in this field and many family members will attend the symposium.
ATP1A3 encodes the Na+/K+-ATPase α3 subunit which is expressed mainly in the central nervous system. Na+/K+-ATPase is an essential transmembrane protein, which is ubiquitously expressed in all animal cell membranes. The Na+/K+-ATPase transports and exchanges 3Na+ and 2K+ through the plasma membrane using energy from an ATP. This pump function was discovered 60 years ago (1957), and it is said that 30% of cellular ATPs are used by Na+/K+-ATPase in living creatures.
Thirteen years ago (2004), the first human disease caused by ATP1A3 mutations was discovered. It was rapid-onset dystonia–parkinsonism (RDP), which mainly occurs in adulthood. Eight years later (2012), three independent research groups (Heinzen et al, Rosewich et al, and Ishii et al) reported that AHC was caused by ATP1A3 mutations. AHC mainly occurs in early childhood. Since then several rare conditions other than RDP or AHC have been demonstrated to be caused by ATP1A3 mutations. In this symposium, we would like to discuss the physiological functions of the Na+/K+-ATPase, the characteristics of ATP1A3-related diseases, and the possible new treatment methods for ATP1A3-related diseases.