At some point in our lives, nearly all of us will know someone affected by Alzheimer’s disease (AD), a disease that throughout its course will ultimately shrink the brain. Alzheimer’s disease is known to be accompanied by plaques or tangles in the brain, cortical atrophy, meaning death/less of brain tissue, and a reduction in the metabolism of glucose, which leads to less brain activity due to the loss of energy. Onset of Alzheimer’s symptoms is often slow, but hard to control once the deterioration begins and symptoms have begun to show. Due to the ever-increasing prevalence of Alzheimer’s, recent studies have focused immensely on finding a specific cause for the disease, which has been previously proven to have a genetic component and be highly heritable.
The search for a specific gene abnormality leading to Alzheimer’s is one requiring much patience and in depth searching, in which many scientists have taken on, and the current study provides a summary and conclusion of their work. Two genes have already been found to be involved in the onset of AD, but only for the form of Alzheimer’s known as Early Onset Alzheimer’s Disease, but not for the much more common form of Alzheimer’s known as sporadic Alzheimer’s disease, where a specific heritable component is not known to be at play. Onset of sporadic AD is typically much later in life, and much more difficult to predict causation.
A specific gene, the rs2373115 gene, found in the GAB2 protein, has been hypothesized as a potential genetic marker for Alzheimer’s risk. As humans, we have 46 chromosomes, set up in 23 pairs. The GAB2 protein is a binding-protein, bound at our 11th chromosome. Some neurons in the brain, are more vulnerable, and have an increased production of GAB2, specifically increased expression of the rs2373115 gene. All of this genetic jargon is essentially saying that neurons that have higher expression of this gene caused by increased binding-protein have the potential to be more prone to Alzheimer’s disease, so the researchers of this study set out to determine whether or not this was the case.
The current analysis sampled large sets of data from East Asian populations, as well as European populations, to compare the expression of the rs2373115 gene and its correlation to Alzheimer’s diagnoses. By doing this, they concluded that interestingly, the gene is in fact a susceptibility loci in European populations, but it was not in Asian populations. This finding is a breakthrough for the European population, as scientists can search for a means to stop the increased production of this protein in the neurons of those who show this genetic marker, hopefully preventing the onset of Alzheimer’s and the deterioration of the brain. However, in terms of the Asian population, further research must be conducted for a genetic marker for AD.
Guerreiro,R.J., Gustafson, D.R., Hardy, J. (2012). The genetic architecture of Alzheimer’s disease: beyond APP, PSENs and APOE. Neurobiology of Aging, 33: 437-456.
Hu, Y., Zheng, L., Cheng, L., Zhang, Y., Bai, W., Zhou, W., Wang,T., Han, Z., Zong, J., Jin, S., Zhang, J., Liu, G., Jiang, Q. (2017). GAB2 rs2373115 variant contributes to Alzheimer’s disease risk specifically in European population. Journal of the Neurological Sciences, 375: 18-22.
