Publication details for Dr James DachtlerKirshenbaum, G.S., Dachtler, J., Roder, J.C. & Clapcote, S.J. (2016). Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. Neurogenetics 17(1): 57-63.
- Publication type: Journal Article
- ISSN/ISBN: 1364-6745 (print), 1364-6753 (electronic)
- DOI: 10.1007/s10048-015-0461-1
- Further publication details on publisher web site
- Durham Research Online (DRO) - may include full text
Author(s) from Durham
Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 are the primary cause of alternating hemiplegia of childhood (AHC). Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane α-helix TM6, including I810N that is also found in the Myshkin mouse model of AHC. These mutations all substantially reduce Na+,K+-ATPase α3 activity. Herein, we show that Myshkin mice carrying a wild-type Atp1a3 transgene that confers a 16 % increase in brain-specific total Na+,K+-ATPase activity show significant phenotypic improvements compared with non-transgenic Myshkin mice. Interventions to increase the activity of wild-type Na+,K+-ATPase α3 in AHC patients should be investigated further.