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Defect In Gene ATP1A3

                                                            Cognitive Defect
    
           After reading “Cognitive Deficits Caused by a Disease-Mutation in the α3 Na+/K+-ATPase Isoform.”by news nature furthered my understanding of many nuerological diseases and the urge to find a cure and fast.  Alternating childhood of hemiplegia , ALS, epilepsy , and many other diseases all have one thing in common they are neurological they all deal with a defect/mutation in the Sodium Potassium Pump.The “Pump” maintains the NA+ and K+ electrochemical gradient. There is no cure for any of the diseases yet but they are working on it trying to figure out the what causes gene mutation that causes the defect with the NA+/K+-ATPases and how to fix it. They encoded the gene that deals with the defeat which is ATP1A3gene.The ATP1A3 gene is responsible for the production of the protein, ATPase, Na+K+ transporting, alpha 3 poly peptide The goal is to find the phenotype to genotype relationship because this disease remains a large mystery . They have not yet to discover why it harms the nervous system so fast and so hard. Once it starts there is no slowing down the failing nervous system especially with the diseases Alternating Childhood of Hemiplegia and Amyotrophic Lateral Sclerosis. They have been conducting experiments on mice To see if they could solve some of the symptoms that come with the diseases such as seizures that patients of ACH have. They injected some mice with PTZ drug which helped reduce the seizure threshold . They also conducted an experiment watching their locomotor activity as well as many more dealing with diverse neurological symptoms .If they are able to find a cure or something to slow the process of the gene affecting the nervous system would be a huge break through. ACH and ALS is one of the deadliest diseases among, they die very quickly . Most Children diagnosed with ACH don't live past the age of 12 and those with ALS do not tend to live past the 2 years after being diagnosed.




Holm, Thomas Hellesøe, et al. “Cognitive Deficits Caused by a Disease-Mutation in the α3 Na+/K+-ATPase Isoform.” Nature News, Nature Publishing Group, 23 Aug. 2016, www.nature.com/articles/srep31972.

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