As people age, they are prone to facing a whole range of risks, such as physical issues, cognitive decline, and an increased risk of developing certain diseases. One of those diseases is Alzheimer's disease (AD), which is a progressive neurodegenerative disease. It poses a significant threat to the health of older adults, leading to behavioral changes, memory loss, and impaired thinking, which overall affects their quality of life. Alzheimer's is arguably one of the most challenging diseases to find the cause for, having “at least 80 genetic areas associated with this disease”, and not to mention the environmental factors that can contribute to its development [3]. However, recent research has come out showing a novel way to identify AD earlier and a genetic variant that protects against the disease.
Multiple genes are associated with AD, with one prominent gene being the apolipoprotein E (APOE) gene. This gene possesses three alleles: APOE ε2, APOE ε3, and APOE ε4. APOE ε2 offers partial protection against Alzheimer’s, typically leading to the disease developing “later in life than someone with the APOE ε4 gene” [3]. APOE ε3 is the most common allele out of the bunch and is “believed to have a neutral effect on the disease – neither decreasing nor increasing the risk of Alzheimer’s” [3]. APOE ε4 is the “greatest genetic risk factor for late-onset Alzheimer’s disease” [1]. Despite the strong influence these genes have on the development of Alzheimer’s, they do not provide full predictability of the whether one will develop the disease or not.
Research conducted by Elizabeth R. Paitel and Kristy A. Nielson introduces an innovative approach to identifying the risk of developing AD before symptoms progress or show. Deficiencies in executive functioning are noted to “underlie both the mild cognitive declines associated with healthy, normative aging and the severe declines in Alzheimer's disease”, leading to challenges in distinguishing between normal aging and Alzheimer's symptoms [1]. Paitel and Nielson’s study focused on utilizing “EGG source localization to examine the impact older age and APOE ε4 inheritance on cerebellar activity” [1]. The significance of examining this brain region lies in executive functioning skills relying not only on the frontal lobe, but also on “effective communication between the frontal lobes and the regions of the posterior cerebellum” [1]. The study findings revealed that “older age predicted greater activity specifically within the ε4- group” and “ε4+ deviated from this pattern and did not show greater cerebellar activity with older age” [1]. Ultimately, the study concluded that the “posterolateral cerebellum is sensitive to AD-related neural deficits in healthy elders” and the “characterization of these patterns may be essential for the earliest possible detection pf AD risk” [1]. This discovery holds significant importance, as it provides possibilities for early intervention before symptoms appear, in combination with other identifying factors. Early intervention strategies can vary, but another recent discovery might create another option for treatment.
Recent research conducted by an international team led by Harvard Medical School has found a “new genetic variant that protects against Alzheimer’s disease” [2]. This breakthrough came from examining a patient who had a “genetic predisposition for developing early-onset Alzheimer’s” but still “remained cognitively intact until his late 60s” [2]. It was then discovered that certain individuals possessed a gene predisposing them to Alzheimer’s while having another that “protected them from the symptoms of the disease” [2]. This suggests the potential of using gene therapies associated with this specific gene in treatment of AD. The findings also “pinpoint a region of the brain that may provide an optimal treatment target” [2]. It is important to note that other contributing factors, including other gene elements, could have played a role in shielding patients from Alzheimer’s symptoms. Collectively, the two studies mentioned have potential for the identification and treatment of AD.
These two significant studies offer some hope in the early identification and treatment of individuals at risk of AD. Alzheimer’s is the most prevalent form of dementia and presents a challenge in healthcare. If accurate, these discoveries mentioned can help change our approach to Alzheimer’s by providing interventions before symptoms manifest or worsen. Individuals at risk for Alzheimer’s could preserve their independence and overall health for longer. By addressing the disease earlier, there is the potential to positively impact the lives of millions worldwide, offering them a brighter future.
Works
Cited
1.
Paitel, E. R., & Nielson,
K. A. (2023). Cerebellar EEG source localization reveals age‐related
compensatory activity moderated by genetic risk for Alzheimer’s disease. Psychophysiology, 60(12).
https://doi.org/10.1111/psyp.14395
2.
Communications, H. B.
M. G. B. (2023, May 15). Newly identified genetic variant protects
against Alzheimer’s. Harvard Gazette. https://news.harvard.edu/gazette/story/2023/05/newly-identified-genetic-variant-protects-against-alzheimers/
3.
National Institute on
Aging. (2023, March 1). Alzheimer’s Disease Genetics Fact Sheet.
National Institute on Aging. https://www.nia.nih.gov/health/genetics-and-family-history/alzheimers-disease-genetics-fact-sheet
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