This is a day to remember, scientists at Duke University School of Medicine, Durham, US, along with an international team of experts from the AHC associations from US, Italy,France and Ireland have found the cause of AHC
NATURE GENETICS PUBLICATION HERE
– Champagne anyone?
Exomes of seven AHC patients and unaffected parents were sequenced using next-generation sequencing. Three additional patients were whole-genome sequenced and 91 were screened for causal ATP1A3 mutations using Sanger-sequencing. Disease-causing mutations were evaluated for their effects on protein expression and ATPase activity in vitro.
We initially identified de novo nonsynonymous mutations in ATP1A3 in seven patients. Subsequent sequencing revealed that 66% of cases have ATP1A3 mutations, including one inherited in a family with autosomal dominant AHC. Two mutations (D801N and E815K) explained 45% of cases. AHC-causing ATP1A3 mutations and those that cause rapid-onset-dystonia-parkinsonism (DYT12) showed consistent reductions in ATPase activity. However, only DYT12 mutations reduced protein expression.
This work identifies ATP1A3 as a key gene explaining the majority of AHC cases, and offers insights into AHC pathophysiology and a valuable tool for diagnosis.
International Child Neurology Congress
This is a time to be optimistic, we are now on a platform to find a cure for AHC within 15 years.
WE WILL FIND A CURE FOR ALTERNATING HEMIPLEGIA OF CHILDHOOD