7 May 2022

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Genetics and Alzheimer’s disease

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Introduction of Genetics and Alzheimer’s disease 

Alzheimer’s disease is a Multifactorial disorder in adults that is determined by the genetic factors. Genetics is simply described as the study of hereditary where parents pass certain genes in their offspring biologically. The Alzheimer’s disease explained as a progressive loss of cognitive ability linked to the development of beta amyloid plaques and neurofibrillary tangles in the cerebral cortex and subcortical gray matter that affects millions of people in the world. The disease appears before the ages of sixty in many individual and shows its earliest symptoms and later after the age of sixty onwards showing severe and serious symptoms. The severity of the disease worsens with time and age, hence, can be divided into three parts that include the early, intermediate and the severe stages. Among the symptoms and characteristics include worsening degrees of memory loss, confusion, difficulty learning new information, anomia as well as changes in behavior and personality (Mikail, 2008). The later and severe stages of the disease make patients lose motor gross motor function, therefore, unable to eat or walk on their own and usually incontinent. The genes linked to the development of Alzheimer’s disease include the Amyloid Precursor Protein (APP) gene, Presenilin 1 (PSEN 1) and Presenilin 2 (PSEN 2). The noted genes are common in the familial early onset of the Alzheimer’s disease. The later onset of the disease may occur with or without the family ties and is associated with the aPolipoprotein E (apoE) gene. The Alleles of the gene area associated with different risks of developing the disease. It is also imperative to note that posing the high risk- genotype does not translate into developing the disease. Frequent screening is not recommended because of the insufficient evidence for or against the process of screening older adults genetically or otherwise as well as because treatment of Dementia is limited in general (Hoarau et al., 2016). 

Challenges and problems associated with Genetics and Alzheimer’s disease

The challenges include nobody knows the exact cause of the disease but the only thing that majority of scientists know is that genes are involved. The position has made it difficult to address and counter the disease successfully over the recent years that it has reported increased number of people with the disease as the majority of the population in many places reaches late adulthood ages that the disease starts to show (Fonseca et al., 2016). The diagnosis of the disease by exclusion also makes it hard for patients as well as discourages treatment of the disease where other possible forms of dementia must first be ruled out through history, imaging tests, laboratory and history before the disease can be confirmed through the postmortem studies of the brain tissues. It, thus, takes much time before the disease can be ascertained and, consequently, people who have the disease continue to suffer and endure the pain among other severe symptoms noted in the advanced phases of the disease. It discourages intervention through treatment that can sustain the patients and eliminate the possible suffering and pain that would be executed the moment the disease has been confirmed. The later stages of the disease where patients lose gross motor function expose them to great dangers such as when unable to walk or eat on their own that increases their vulnerability to other disease and possible health challenges that might ultimately result in higher number of deaths (Desikan et al., 2015). Moreover, the financial burden to the families and close people to the patients who cater for the financing of the patient's treatment and care. Also, the disease falls into the category of the terminally ill patients as it has no cure yet and, therefore, they can be allowed to try and use the clinical drugs that are yet to be approved by the Food and Drugs Association (FDA) that regulates the drugs industry. It is critical to note in the contemporary times that many states and countries have formed laws to allow such people with terminally ill disease to try and use clinical drugs that have passed the early stages of the process and treatment. It has benefits and drawbacks associated with such moves and might increase more dangers and harm to the Alzheimer’s disease patients among other risks involved in using the clinical drugs. 

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Review of the genomics literature 

Alzheimer’s disease has attracted intense debate and research as noted in much literature in the contemporary times from diverse scholars and professionals addressing different issues related to the disease. It indicates the seriousness that the disease is a concern to the humanity and, as a result, there is an immediate need for further research and address concerns noted in many of the literature that talks about the subject. The piece by Chain (2010), titled, “As the cost of treating Alzheimer's continues to grow, so does the need for a solution” present the real status that many people get concerned over in the contemporary times that try to address the disease objectively. It points out the soaring costs at the expense of increased urge and needs for finding lasting cure and solutions to the problem. The piece has also linked the impact of the Alzheimer’s disease to the Medic Aid and Medicare costs and the impact that it would have to the health care sector as a whole. It would negatively impact other health care services and delivery because of the increased costs and the increased population that is aging that is projected to increase to 13.5 million by mid-century from 5.1 million presently that have Alzheimer's disease. Chain (2010), therefore, brings a critical role that would help planners project and avail enough resources to address the projected challenges related to the disease. Also, create the synergy and impetus that researchers among concerned bodies can take the disease seriously and provide necessary resources that can enhance research and studies that can find a cure to the disease and, hence, provide a long-term solution to the concern. The piece asserts the health care sector is already strained and the disease would overburden an already dwindling health care system and, thus, needs to be addressed and taken seriously by all the concerned stakeholders. Solving the Alzheimer’s disease crisis requires dramatic shifts in direction that incorporate action such as increased levels of collaboration, creation of the broader network of innovation as well as greater investment in research (Chain, 2010). The piece further clarifies that the current drugs used for the treatment of Alzheimer’s disease only addresses the symptoms of the disease and not the real cause at the onset of the disease. It presents additional data and research findings by recognized professional bodies that further indicates the financial costs that the disease would have if necessary actions are not instituted with immediate effect. It concludes by presenting evidence that indicates that the three broad categories of greater investment in research, a culture of collaboration that would enhance sharing and learning of knowledge, and finally the creation of a broad network for innovation.

Ballard et al. (2011) also present an interesting view and analysis of the Alzheimer’s disease that touches on critical factors such as the recent evidence regarding the disease, pathogenesis, as well as the treatment of the disease. It additionally presents ways that reduce the risks of developing the disease that was discussed and presented in a seminar. According to Ballard et al. (2011), an estimated 24 million people worldwide have Dementia where larger portions have Alzheimer’s disease. It also asserts that it is a major public concern and research priority that indicates the magnitude and seriousness that the disease has to humanity as a concern. The piece presents the geographical or regional distribution of the disease where China as country or Asia region is noted as a leader among the people that suffer from Alzheimer’s disease. It also predicts and projects about the future where it predicts that an estimated 43.2 million people worldwide would have the disease by the year 2020 and 81.1 million by 2040. Ballard et al. (2011) note the two pathological of the disease that includes the amyloid plaques and neurofibrillary tangles. It encourages the incorporation of the modern techniques and technology to improve the diagnosis and shift from diagnosing post mortem and encourage early diagnosis. It presents an in-depth analysis of available option for diagnosis and treatment. It encourages education and a change in lifestyles that can help reduce the risks factors that can lead to the development of the Alzheimer’s disease as well as improved treatment and or prevention of medical conditions that confer additional risks (Ballard et al., 2011). The piece, thus, has in-depth information that is rich in information concerning Alzheimer’s disease that has proved relevant to the concerned and interested parties thus a critical genomics literature. 

Ridge et al. (2013), on the other hand, also addresses a critical subject related to Alzheimer’s disease that presents a research finding of the subject. The piece asserts and conforms to the general view expressed by many including Chain (2010) and Ballard et al. (2011) that the disease is complex influenced by genetic as well as environmental factors. It presents findings of professional research done about the subject of Alzheimer’s disease where it identified 11 types of the Alzheimer’s disease in 10 locations. It might give a hint and lead to the difficulties that most researchers have experienced in the course of trying to address the concern objectively and come up with a treatment that would cure the disease and not the symptoms as many currently have done. The research observed all research protocol and requirements that make the findings and presentation by Ridge et al. (2013) hold weight and bring a new chapter may be shortly in the form of research as had already been noticed by Ballard et al., (2011) as a research priority. The research study tried to explain the phenotypic variance through analyzing the genetics consortium. The findings indicated that more than 25% of phenotypic variance remains unexplained that led to the conclusion part of the study recommending future studies that would identify the remaining heritability of Alzheimer’s disease. The piece, consequently, presents hope that shortly if intensive research and additional resources are channeled towards addressing the subject of Alzheimer’s disease objectively can result in positive result and outcomes. And, therefore, help the world and in particular health care providers and planners address the mystery and challenge that the disease presents shortly that has projected costs for treatment and management. 

Critical analysis of challenges/problems

The problems associated with Alzheimer’s disease such as nobody with information on the exact cause of the disease presents more challenges in managing and addressing the disease objectively. Diagnosis of the disease by exclusion makes it difficult for the patients by dragging on time that they can get help and, hence, continue suffering (Baumgaertel et al., 2016). Also, patients that have lost gross motor function become more vulnerable to other health care challenges as well as issues relating to economics and in particular financial strain as most cannot manage and run their funds as well as not being economically productive able to engage in constructive economic activities. The disease is a terminally ill type that allows the use of clinical or trial medicine as noted in most parts of the country and also has high risks involved and negative outcomes that can make the patients more vulnerable. 

Recommended solutions 

Increase intensive research to find out the cure for the Alzheimer’s disease

Find alternative ways to diagnose the disease other than diagnosis by exclusion

Involve family intervention when the patients lose gross motor function at the critical stages of the disease to reduce their vulnerability from other health care concerns and safety related issues.

Discourage the use of clinical drugs for Alzheimer’s disease patients. 

Implementation of solutions 

The solutions recommended above should be implemented with immediate effect to increase the chances of addressing the healthcare challenge objectively. The number of people aging and getting the disease continues to increase straining the limited finance in healthcare sectors in many societies. The solutions should be implemented by all concerned stakeholders either in the government or private sector concerned with health care matters. 

Justification of solutions

The solutions address the subject objectively and, hence, draws the picture and concern as experienced and analyzed from a global point of view and not regional or country. It is a problem that would be solved worldwide the moment the solution is found. The solutions also present a variety of options such through research, encouraging diverse ways of diagnosing and treatment and preventive measures, and so, the solutions provide an objective analysis and view of the subject.

Conclusion

Alzheimer’s disease has proved to be a critical health care challenge that poses great threat and danger in the recent future. It, thus, prompts drastic actions to be taken by all stakeholders to halt the continuous disease spread among the aging populations. The solutions provided try to address the concern objectively and hence need to be supported either directly or indirectly by all.

References

Ballard, C., Gauthier, S., Corbett, A., Brayne, C., Aarsland, D., & Jones, E. (2011). Alzheimer's disease. The Lancet , 377(9770), 1019-31. 

Baumgaertel, J., Haussmann, R., Gruschwitz, A., Werner, A., Osterrath, A., Lange, J., & ... Donix, M. (2016). Education and Genetic Risk Modulate Hippocampal Structure in Alzheimer's Disease. Aging & Disease , 7(5), 553-560.

Chain, D. (2010). As the cost for treating alzheimer's continues to grow, so does the need for a solution. Managed Care Outlook , 23(14), 1-7.

Desikan, R. S., Schork, A. J., Wang, Y., Witoelar, A., Sharma, M., McEvoy, L. K., & ... Heutink, P. (2015). Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Molecular Psychiatry , 20(12), 1588-1595.

Fonseca, M. I., Chu, S., Pierce, A. L., Brubaker, W. D., Hauhart, R. E., Mastroeni, D., & ... Tenner, A. J. (2016). Analysis of the Putative Role of CR1 in Alzheimer’s Disease: Genetic Association, Expression and Function. Plos ONE , 11(2), 1-21.

Hoarau, M., Malbert, Y., Irague, R., Hureau, C., Faller, P., Gras, E., & ... Remaud-Siméon, M. (2016). A Robust and Efficient Production and Purification Procedure of Recombinant Alzheimers Disease Methionine-Modified Amyloid-β Peptides. Plos ONE , 11(8), 1-13.

Mikail, C. N. (2008). Adult Genetics, Genetic Counseling, and Health Behavior. In Public health genomics: The essentials . San Francisco, CA: Jossey-Bass). 

Ridge, P. G., Mukherjee, S., Crane, P. K., Kauwe, J. S. K., & Consortium, A. D. (2013). Alzheimers disease: Analyzing the missing heritability. PLoS One , 8(11).

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StudyBounty. (2023, September 14). Genetics and Alzheimer’s disease.
https://studybounty.com/genetics-and-alzheimers-disease-essay

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