DNA fingerprint data on a paper.

What's Going on?

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. We hope that doctors and researchers who are interested in this field and many family members will attend the symposium.

Who will be there?

We invite experts on Na+/K+-ATPase and ATP1A3-related diseases from all over the world. We welcome many attendants who are interested in Na+/K+-ATPase and ATP1A3-related diseases. We hope that all attendants will enjoy this symposium and the pleasant autumn season of Chicago.

CNS Conference is in Chicago

Of note, the 47th Child Neurology Society meeting on October 15-18th 2018 immediately follows this Symposium and will also be held in Chicago, IL.

 

ATP1A3 in Disease

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.

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