Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of short stature and can also have epilepsy, ataxia and learning disability. The Na+,K+-ATPase has a well-known role in maintaining electrochemical gradients across cell membranes, but our understanding of how the mutations cause AHC is limited. Myshkin mutant mice carry an amino acid change (I810N) that affects the same position in Na+,K+-ATPase α3 as I810S found in AHC. Using molecular modelling, we show that the Myshkin and AHC mutations display similarly severe structural impacts on Na+,K+-ATPase α3, including upon the K+ pore and predicted K+ binding sites. Behavioural analysis of Myshkin mice revealed phenotypic abnormalities similar to symptoms of AHC, including motor dysfunction and cognitive impairment. 2-DG imaging of Myshkin mice identified compromised thalamocortical functioning that includes a deficit in frontal cortex functioning (hypofrontality), directly mirroring that reported in AHC, along with reduced thalamocortical functional connectivity. Our results thus provide validation for missense mutations in Na+,K+-ATPase α3 as a cause of AHC, and highlight Myshkin mice as a starting point for the exploration of disease mechanisms and novel treatments in AHC.
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Eurordis´s article of the week is about the launch of the AHC Federation of Europe
For the article click HERE
WELCOME TO THE NEWLY FOUNDED AHC FEDERATION OF EUROPE THAT IS FOUNDED ON RARE DISEASE DAY 28th FEBRUARY 2013
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The purpose of the AHC federation of Europe is to unite all AHC patient associations in Europe, to create a synergy and a critical mass in order to achieve the following objectives:
- Promote the awareness of AHC at European level.
- To promote and support the research on AHC.
- To develop a better quality of life for all the persons affected by AHC and their families.
- Represent the European AHC community within EU in regards to social and health politics, investment in scientific research and drug development
Members are all current AHC organizations in Europe.
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DIA’s Annual EuroMeeting is global in scope and attracts well over 3,000 professionals from more than 50 countries. It brings together professionals from the biopharmaceutical industry, contract research and service organisations, academic research centres, regulatory agencies and health ministries as well as delegates from patient organisations. This convergence affords participants the opportunity to network with professional colleagues from around the world.