Skip to main content

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.

Comments

Popular posts from this blog

Household chemicals rival vehicles as smog source- Sarah Quist

Household chemicals rival vehicles as smog source Sarah Quist BIOL 1610 2/17/18 This article was of particular interest to me as I have been keenly aware, for many years now, the dangers of toxic household products, personal products and chemicals used on lawns and gardens. Although regulations have made some progress in reducing vehicle emissions, smog remains a huge problem in US cities. A group of researchers set out to find what other sources could be contributing to the continuation of polluted air. The research was led by Brian McDonald, an air-pollution researcher at the US National Oceanic and Atmospheric Administration (NOAA) in Bolder, Colorado. Brian stated that he was surprised to find that the products he used in the morning to get ready for work are comparable to the emissions coming from the tailpipe of his car. What they found was that chemical products are different than vehicle emissions in that they are designed to evaporate. "Once in the air, the compoun...

Getting the Inside Dope on Ketamine’s Mysterious Ability to Rapidly Relieve Depression

In the article Getting the Inside Dope on Ketamine’s Mysterious Ability to Rapidly Relieve Depression by Simon Makin, he opens with, “Ketamine has been called the biggest thing to happen to psychiatry in 50 years…” The article discusses how researches don’t yet completely understand how the drug Ketamine can improve depression symptoms in as little as 30 minutes, but other known anti-depressants take weeks or even months. The article goes on about how ketamine early on started being abused like most drugs and it is known to cause hallucinations, out-of-body experiences and other effects and its anti-depressant properties weren’t discovered until about 20 years later. Researchers have found that ketamine does not influence mood like other ant-depressants, but it actually affects the brain by blocking depression from entering the lateral habenula (LHb). LHb is what activates when your expectations are not met or you are disappointed. Tests were ran on lab rats that showed depre...