According to a recent article in MedicalXpress, the newest discovery in the search to reduce the risk of AD was through the work of researchers led by Dr. Jaehong Suh, a neuroscientist at Massachusetts General Hospital in Boston. The findings may pave the way to developing investigational drugs that could delay and even halt AD.
About the ATXN1 Gene
About ten years prior to Dr. Suh’s discovery, Dr. R. E. Tanzi and his team of researchers at the McCance Center of Mass General identified ATXN1 and other genes that we now know are linked to AD.
About the Ataxin-1 Protein
The genetic code that ATXN1 carries produces the ataxin-1, a DNA binding protein.
Spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease is caused by mutations in ataxin-1. Symptoms of SCA1 include loss of balance and coordination plus memory and learning issues
The Researchers Connect the Links
Although Doctors Tanzi and Suh’s teams were aware of an “association” between ATXN1 and AD, they set out to establish how the ATXN1 gene can increase the risk of AD. The loss of ataxin-1 function was suspect.
About the Experiment
Dr. Suh’s team crossbred mice selected to have their ATXN1 gene deleted with another group of mice genetically engineered to have AD.
The crossbreeding generated offspring missing ataxin-1 and resulted in the mice having a significant rise in their levels of beta-secretase 1 (BACE1)
About BACE1
Amyloid plaque is one of the main characteristics of AD. BACE1 has a major role in amyloid plaque formation. The plaque is formed by proteins and damaged nerve cell clusters that are located in the brain.
It was evident to the researchers that the mice with the ataxin-1 deletion evidenced much greater amyloid plaque deposits than the mice crossbred with AD.
The mice with the ataxin-1 deletion (group 1) exhibited inflamation of the brain at much higher levels than group 2, the AD group.
The first group showed less new formation of neurons that affected memory and learning. Additionally, the fibers carrying signals between neurons (axons) were impaired.
Dr. Tanzi has co-authored a study describing their discovery. It will be published in the journal CELL this month. The doctor concluded by saying that in the past some highly toxic experimental drugs that could block BACE1 had failed. However, he believes that their discovery will safely stop amyloid plaques and halt AD before it can begin to cause symptoms.
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