Monday, November 20, 2023

A Rare Mutation which Helps Protect Against Symptoms of Alzhehimer’s Disease

 An illustration of tau proteins, in orange, with blue and purple proteins floating around.

A Colombian man showed a rare condition, where he was not showing symptoms for Alzheimer’s Disease despite having inherited it. This is the second time scientists have ever seen this mutation with one more Columbian woman carrying it. In many cases, people start showing signs of Alzheimer’s in their forties. However these two individuals with the mutation, are in their seventies, showing no major signs. Scientists believe that this mutation occurs in the PSEN1 gene which is a gene for cutting proteins into peptides. The main cause of the symptoms related to Alzheimer’s disease is Amyloid Plaques and tau tangles. In the case of the women, it was found that there were low levels of tau tangles which are clusters of proteins. However in the man, there were high levels of tau tangles. This showed scientists that in many cases, the protective gene can either be ubiquitous or it can also be only concerned in one area. However the mutation can cause the gene to help reduce tau tangles in some way and this causes the symptoms of Alzheimer’s Disease to be reduced. 

This is very interesting as only two people in the world have exhibited this mutation. This shows that this is something rare however not just a single case that should be dismissed. In addition, it is also a very big coincidence that the only two cases in the world are found in the same country. This is also important because currently there is no cure for Alzheimer’s Disease and this provides insight on new possible treatments related to reducing the effects of tau tangles (clusters of proteins) and ultimately the related symptoms. 


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