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Early Analysis of Alzheimer’s Through Genetic Testing Annotated Bibliography Journal Article: Herman, L., Atri, A., & Salloway, S. (2017, April 25). Alzheimer's disease in primary care: The significance of early detection, diagnosis, and interventional. The American Journal of Medicine. This article focused on the disease of Alzheimer’s as well as heritability, increased risks, common alleles that were seen, and research today. Throughout the article, the reader learns the differences in genetic components between early-onset and late-onset. Late-onset is more common than early on-set, typically appearing in an individual’s early 60s. Researchers found a vital variant of the apolipoprotein E, found on chromosome 19, that is linked to increasing a person’s risk of obtaining Alzheimer’s disease. The gene comes in several forms or alleles, and every individual inherits two. Possessing one or two APOE ε4 alleles increases the liklihood of Alzheimer's. In contrast, recent research findings are indicating that the APOE allele may provide protection against Alzheimer's. Different from late-onset, early-onset is rare and represents less than 10 percent of the population. The article was insightful on the increased risks and heritability that come with the disease of Alzheimer’s. The overview and findings were well explained and very straightforward for the reader. In addition to this, the authors especially did a good job in obtaining accurate statistics and providing statistical evidence. Overall, the article is fully understood, and it left the reader with no unanswered questions. This article is important to gain an understanding of Alzheimer’s disease, heredibility, and genetic contents involved.
Journal Article: Goldman, J. S., Hahn, S. E., Catania, J. W., LaRusse-Eckert, S., Butson, M. B., Rumbaugh, M., Strecker, M. N., Roberts, J. S., Burke, W., Mayeux, R., Bird, T., & American College of Medical Genetics and the National Society of Genetic Counselors (2011). Genetic counseling and testing for Alzheimer’s disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in medicine: official journal of the American College of Medical Genetics, 13(6), 597– This journal article by authors of the US National Library of Medicine National Institute of Health focused on the comprehensive impact of Alzheimer’s globally by investigating heritability among ethnic groups. In addition to this, authors discussed worldwide statistics, practice guidelines when genetic testing for Alzheimer alleles, and diagnostic requisites. “Alzheimer’s is usually described by slowly progressive episodic memory loss, which evolves into global loss of cognitive ability, psychiatric features, and involvement of other deeper brain areas such as the basal ganglia"(Goldman et al., 597, 2011). According to the Diagnostic and Statistical Manual for Mental Disorders, 4th Edition the current diagnostic standard for the disease are based on pathological information after an autopsy, which requires the individual to possess pre-death symptoms or identification of the allele associated with Alzheimer’s. Researchers have also found that results point to a significant correlation between cerebrospinal fluid and beta-amyloid peptides in regard to increased risk of the disease. Lastly, the article discussed findings regarding how to slow the progression of Alzheimer’s through two scientific processes. This is breakthrough information as any prolongation of the disease or lives that can be saved would be groundbreaking from this heinous disease. The article by the US National Library of Medicine National Institute of Health was very informative. The overview and findings were clear and
This article by L. Thraves of Alzheimer’s Society was very explanatory, communicative, and involved well-formulated opinions regarding societal views on genetic testing and diagnosed Alzheimer’s cases. In addition to this, the authors did a great job captivating the audience with human opinions because many times journal articles do not captivate audiences as they do not have the emotional side to them. Overall, it was fully understood and left no unanswered questions regarding the information it was presenting. This article is important in order to gain an understanding of society’s views on Alzheimer’s disease as well as what people believe should be done to help those affected with this disease. Journal Article: Thomas S. Wingo, M. D. (2019, July 1). Association of early-onset ad with elevated LDL-C levels and rare APOB coding variants. JAMA Neurology This journal article by Thomas Wingo of JAMA Neurology discusses the association of early-onset Alzheimer’s with elevated LDL-c levels and rare apob coding variants. Early-onset Alzheimer’s is a rare form of disease that is formed by a large genetic basis. Researchers have found that late- onset Alzheimer’s is associated with circulating elevated cholesterol levels after adjusting for the apolipoprotein allele. To investigate further into the correlation between high circulating cholesterol levels and increased risk of Alzheimer’s researchers set up a case series. Plasma cholesterol levels were measured in more than 200 samples from Alzheimer’s research centers of three different Universities across the United States. The genes were sequenced in samples and examined in multiple linear regressions to discover genetic variants associated. Of the two thousand and one hundred and twenty-five samples that underwent genetic sequencing, one thousand two hundred and seventy-six were from women and six hundred and fifty- four were from patients with EOAD. Meaning that LDL-C in EOAD
pathogenesis suggests a direct link of APOB variants to and higher risk of developing Alzheimer’s. The article by Thomas Wingo of JAMA Neurology was a fantastic illustration of the study done between the correlation of elevated cholesterol levels and the disease. The overview and findings were well explained and very straightforward for the audience. In addition to this, the authors especially did a good job in obtaining accurate statistics. This article is important to gain an understanding of Alzheimer’s disease and the scientific findings regarding risk factors and proteins. Leaving no unanswered questions, this article is crucial to the understanding of gene variations and their association with Alzheimer’s disease. Electronic Material: Van Cauwenberghe, C., Van Broeckhoven, C., & Sleegers, K. (2015, August 27). The genetic landscape of Alzheimer disease: Clinical implications and perspectives. Nature News. This electronic material by Van Cauwenberghe, Van Broeckhoven, C, and Sleegers of Genetic in Medicine discusses the genetic landscape of Alzheimer’s disease in relation to clinical implications and perspectives. Specifically, the authors discuss the genes making up Alzheimer’s that researchers have identified so far including amyloid precursor protein, presenilin 1 and 2, and apolipoprotein E. The search for genetic factors contributing to Alzheimer’s has been going on for decades and began with the discovery of these mutations and have been a driving factor in still rigorously searching for a cure. The amyloid precursor protein is widely known as the restriction factor that protects humans against the Zika virus infection. It is found within many tissues and organs, including the brain and spinal cord. Alzheimer patient-derived neurons reveal a distinct mutation in this protein. On the other hand, presenilin 1 and 2 are homologous genes that are a frequent
have approved at-home genetic testing, the 23andMe Personal Genome Service Genetic Health Risk test, which tests for genes associated with the risk of many different neurological diseases, including late-onset Alzheimer's. Individuals will be able to send 23andMe a saliva sample and receive their genetic data back through the mail. The article breaks down risk genes and deterministic genes. Risk genes increase the likelihood of developing the disease, however, does not mean it is certain and the individual will develop the disease. Whereas deterministic genes directly cause the disease guaranteeing that the individual with the gene will get the disease. However, even though 23andMe is FDA approved, researchers still advise genetic testing due to the lack of evidence regarding the topic. The facts are that many people who have APOE-e4 never experience Alzheimer’s dementia symptoms, and many who do develop the disease do not have any copies of APOE-e4. This article was specifically vital in the aspect of allowing readers to understand at-home genetic testing as well as some of the faults that come with it. In addition to this, the authors did a great job explaining the genes being tested for as well as the difference between deterministic and risk genes. Overall, it was fully understood and left the audience with no unanswered questions regarding the information it was presenting. This article is important to gain an understanding of faults in genetic testing even if it is FDA approved. Electronic Material: Collins, S. (2020, August 18). Genetic testing for Alzheimer’s has emotional risks. WebMD. This electronic material by Collins of WebMD discusses the experience of San-Diego-based retired nurse Jamie Tyrone who participated in a clinical trial in 2020 regarding neurological diseases and lifestyle
changes. Jamie Tyrone has struggled with mysterious progressive neurological diseases for about fifteen years that have weakened and fatigued her. The researchers were intrigued to figure out if there was a correlation between an individual learning their genetic risk for developing different neurological diseases, through a direct-to-consumer genetic test, and taking up a healthier lifestyle after finding out the results. In addition to discussing the clinical trial, the author also discusses the anxiety and distress that comes with learning if you have a gene that increases your risk for serious disease. Many individuals have said that if they received genetic counseling before receiving the genetic testing, they would not have wanted to know due to the depression it causes if you carry the gene. Many could not shake the thought of living with the dark Alzheimer’s shadow creeping upon them. Genetic counselors educate people before receiving the APOE test on their risks for Alzheimer’s based on numerous factors. Ideally, these counselors are supposed to sit with the individual and weigh the pros and cons of receiving this information as well as how the individual typically deals with upsetting news, preparing them for the worst. If the counselor suspects the individual does not handle bad news well, they will advise them not to get the test. The trial that Tyrone took place in discovered that ninety percent of the 2,037 people who completed the study had no real rise in stress or anxiety after receiving their results. However, the study did not explore stress based on which disease the individual was at high risk for. For example, learning about an increased risk for glaucoma, which can be preventable, would be less stressful than learning about Alzheimer’s risk. In addition to this, an added stress is whether the individual decides to share their genetic status with family members. On one hand, some family members do not want to know, but on the other hand, is it unethical to share it with them?
and comes with a fee, and typically has a low predictive value. As predictive testing is a great tool for uncovering mutations associated with the disease and coming one step closer to a cure, it is an extremely emotionally challenging test. This is because the testing generates practical difficulties and can put an individual into a panic if they have this allele, even if it is not certain they will develop the disease. The author recommends that before an individual considers genetic testing that it is crucial that proper genetic counseling is provided to guarantee it is the correct decision for the individual. It is also vital that if someone does do the genetic testing, they receive counseling after they receive the results to ensure they comprehend the findings. However, when doing a commercial test, no counseling is provided. Overall, The Alzheimer’s Society demands individuals to sustain proper and timely counseling if receiving predictive genetic testing, continued prevention of insurers discriminating against people at risk of Alzheimer’s, and more research revolving around genetic factors for the disease. This article by L. Thraves of Alzheimer’s Society was very explanatory and communicative. The opinions were well explained to the audience. In addition to this, the authors did a great job captivating the audience with human opinions because many times journal articles do not captivate audiences as they do not have the emotional side to them. Overall, the article was fully understood and left the reader with no unanswered questions regarding the information it was presenting. This article is important to gain an understanding of society’s views on Alzheimer’s disease as well as what people believe should be done to help those affected with this disease. It is a great source to include human beliefs in future literature.
Journal Article: Lawrence Herman, Alireza Atri, Stephen Salloway, 2017, Alzheimer's Disease in Primary Care: The Significance of Early Detection, Diagnosis, and Intervention, The American Journal of Medicine, Volume 130, Issue 6, Page 756, ISSN 0002-9343. This journal article by Lawrence Herman, Alireza Atri, and Stephen Salloway discusses that currently, the field of Alzheimer’s disease is undergoing an extensive and expeditious change. There have been clinical trials that have been redesigned to key in on individuals in the earliest stages of the disease. They are doing this by including highly sensitive measurement tools to better apprehend changes in cognition and other outcomes. The participants in this trial undergo PET imaging for hallmarks such as amyloid load and genetic testing to determine the likelihood of the progression of the disease. Acknowledging therapeutic intervention, internationally as well as nationally the study has set up many registries to find and establish those at risk for Alzheimer's and note their cognitive changes. Physicians play a vital role in one-day pivoting this disease with early recognition of the impairment of their patients. Apprehension of the process of Alzheimer’s begins ten years before the early on-set symptoms show. Due to this reasoning, recognizing, and diagnosing this disease gives people the best opportunity to prepare, seek available symptomatic treatment, and access community resources. This article by Lawrence Herman, Alireza Atri, and Stephen Salloway was very illustrative of the scientific trial and findings. It captured vital information in the pivotal therapies and findings relating to Alzheimer’s. This article is important to gain an understanding of the scientific field’s views on Alzheimer’s disease as well as show what they are doing to one day prevent this disease from affecting millions.
include sex, age, cardiovascular health, metabolic health, sleep apnea, Down syndrome, family history, head trauma, poor sleep behavior, and lifelong learning and social engagement. However, increasing age is the greatest known risk factor surrounding the disease, for as older you get the more likely your chances are to develop Alzheimer’s. This article by Freudenberg-Hua, Li., and Davies, of Frontiers in Medicine, was extremely informative and to the point regarding The Role of Genetics in Advancing Precision Medicine for Alzheimer’s Disease. The authors were very expository regarding the scientific research and new findings. In addition to this, the article captured key information regarding the neurological aspect of the disease as well as the risk factors. Overall, it left the readers with no unanswered questions regarding the information it was presenting. This article is important to gain an understanding of the scientific field’s views on Alzheimer’s disease regarding the brain and risk factors.
