According to world statistics, there are just over 50 million people worldwide living with Alzheimer’s disease (AD). If that’s not enough, the number is expected to reach 82 million by 2030. With these startling figures, researchers are looking at which individuals can mitigate their risks of developing the condition.
As such, a study out of Cardiff University has found that thanks to their impact on brain health, two genes may cause an increased risk of developing AD.
Newly Discovered Genes Raise Alzheimer’s Risk
A letter published in Nature Genetics, featuring an international team involving Cardiff University’s Dementia Research Institute, revealed that researchers had compared 32558 genetic codes from patients with Alzheimer’s disease and healthy individuals.
According to the letter’s findings, researchers found two genetic mutations, ATP8B4 and ABCA1, that may increase the risk of Alzheimer’s disease. They also noted proof of a genetic alternation, ADAM10.
“These findings point us towards very specific processing in the brain, which includes differences in the brain’s immune system and how the brain processes cholesterol. These differences impact brain functioning and leads to the development of Alzheimer’s disease.” – Professor Julie Williams, study co-author and Director of the Dementia Research Institute at Cardiff University.
ATP8B4, ABCA1, and Alzheimer’s Risk
According to the researchers, the genes may increase the risk for Alzheimer’s by impacting the brain’s immune system and cholesterol processing.
Brain’s immune system and AD
In terms of the brain’s immune system, an immune cell is part of the central nervous system called microglia. Microglia’s function is to protect the health of the brain by clearing away debris and toxic materials from the brain.
Unfortunately, the over-activation of microglia can cause uncontrolled chronic inflammation, which can then increase the risk for Alzheimer’s.
Cholesterol processing and AD
Cholesterol doesn’t just play a role in heart health. When it comes to a healthy brain, cholesterol is needed for the communication processes of neurotransmitters, particularly dopamine and serotonin. Unfortunately, similar to heart health, excessive levels of cholesterol can be detrimental to neurological health.
According to a 2021 study, cholesterol manufactured in the brain may be a risk factor for the development of Alzheimer’s disease.
For the researchers, the new findings not only help to expand our knowledge about Alzheimer’s risk factors, but they also provide a chance for us to better understand the mechanisms underlying Alzheimer’s.
In doing so, it provides an opportunity for researchers to develop targeted therapies in the future, be it through new drug-based treatments or even gene therapy.
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Researchers all over the world are attempting to stem the progression of Alzheimer’s. In fact, a promising new drug trial could offer a drug that slows the progress of brain-wasting disease by 27%.
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Guan, Y-H, Zhang, L-J, Wang, S-Y, et al. The role of microglia in Alzheimer’s disease and progress of treatment. ibrain. 2022; 8: 37- 47. doi:10.1002/ibra.12023
Holstege, H., Hulsman, M., Charbonnier, C. et al. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease. Nat Genet (2022). https://doi.org/10.1038/s41588-022-01208-7
Wang, H., Kulas, J. A., Wang, C., Holtzman, D. M., Ferris, H. A., & Hansen, S. B. (2021). Regulation of beta-amyloid production in neurons by astrocyte-derived cholesterol. Proceedings of the National Academy of Sciences of the United States of America, 118(33), e2102191118. https://doi.org/10.1073/pnas.2102191118