Alzheimer's: New genetic risk factor identified

Alzheimer's: New genetic risk factor identified

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When Alzheimer's is triggered by our genes

A newly identified gene could help explain a large part of the genetic risk for the development of Alzheimer's disease in the future.

In the current study by the University of Kentucky and the Sanders-Brown Center on Aging, a gene was identified that has a significant impact on the risk of Alzheimer's. The results of the study were published in the English-language journal "Journal of Neuropathology & Experimental Neurology".

Aspects of inheritance risk need to be examined more closely

Alzheimer's disease, which starts late in life, is the most common form of neurological disease. The risk aspects of the disease are still not fully understood. Unfortunately, the complexity of the human genome and the shortcomings in previous research are limiting factors, so some genetic phenomena have not been fully investigated.

Genomic regions and repetitive sequences have not been sufficiently investigated

Although Alzheimer's disease is known to be largely heritable, despite extensive research, a substantial portion of the actual genetic risk for the disease is still unclear. For example, inheritance explained 79 percent of the risk of late onset Alzheimer's disease in a Swedish twin study. But there are many incompletely mapped genomic regions and areas with repetitive sequences that have not yet been investigated.

Common risk variants only explain 20 to 50 percent of Alzheimer's diseases

Frequent risk variants, which were identified in genetic studies, could only explain 20 to 50 percent of the late onset Alzheimer's disease. In other words: Relatively much of the genetic influence on the risk of late onset Alzheimer's disease has not been explained by previous genetic studies.

Advances enable new studies

Recent advances in sequencing technology have enabled new, larger studies. Such developments enable the genetic material to be identified much more precisely than was the case in previous studies of gene variants.

Data from more than 10,000 people were evaluated

For the current study, the researchers analyzed the data from more than 10,000 people in the Alzheimer's Disease Sequencing Project. This is how genetic variations related to late-onset Alzheimer's disease should be identified.

Is the Mucin 6 gene a trigger of Alzheimer's?

Preliminary results found evidence of late-onset Alzheimer's disease and linkage of a genetic variation within a segment of a gene called mucin 6. Although the underlying mechanisms are still largely unknown, the researchers believe that it is possible to make these results credible and credible develop verifiable hypotheses.

New treatment options through the results of the study?

For example, the genetic variant associated with Alzheimer's risk may include a biochemical pathway in the brain that is then a potential therapeutic target. This could be examined in further studies.

Further studies on the subject should involve more participants

Since only a relatively small group of patients was examined in the current investigation for a genetics study, further research on this topic should be carried out with more participants. Some recent studies now involve hundreds of thousands of subjects. It should be ensured that the phenomenon can also be replicated in other groups. In addition, the small sample size means that there is a very large effect size, suggesting that the genetic variation is strongly related to the disease. (as)

Author and source information

This text corresponds to the requirements of the medical literature, medical guidelines and current studies and has been checked by medical doctors.


  • Yuriko Katsumata, David W Fardo, Adam D Bachstetter, Sergey C Artiushin, Wang-Xia Wang et al .: Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene, in Journal of Neuropathology & Experimental Neurology (Query: 21.11.2019), Journal of Neuropathology & Experimental Neurology

Video: Alzheimer Disease Risk Factors (October 2022).