Unraveling Alzheimer’s Disease: Genetics, Symptoms, and Societal Challenges

Abstract

This research paper will explore and analyze Alzheimer’s disease, its impacts, costs, treatments, relevant laws, biological mechanisms, and its effects on daily life. This neurological disorder affects millions worldwide and accounts for over 60% of all dementia cases, making it a major health concern. After investigating multiple sources, common symptoms of Alzheimer's include memory loss, cognitive decline, and behavioral changes, all progressively impairing essential functions and affecting one’s quality of life. Alzheimer’s is categorized into different stages based on severity and progression. Despite its identification in 1906, scientists have yet to discover a definitive cure. Though there is a sporadic Alzheimer’s which is not inherited, this paper will focus on familial Alzheimer’s Disease.

I Introduction

Alzheimer’s Disease (AD), is a progressive neurodegenerative disorder that affects thinking, memory, and behavior. AD is considered one of the most devastating illnesses in the world due to the way it slowly takes away a person’s freedom and identity. AD progresses in three main stages, Mild AD, Moderate AD, and Severe AD, with each jump to the next stage marking more intense loss of cognitive abilities and behavior. The cause of Alzheimer’s is still unknown, though it is believed to be linked with the abnormal buildup of proteins in the brain, such as amyloid plaques, that interfere with cell function. Overtime, these buildups of protein lead to widespread death of brain cells and the shrinking of brain tissue. The emotional, physical, and financial toll of this disease is profound, not just for those who suffer from it, but also for their families and caregivers.

Alzheimer’sDisease 3 II Thesis Statement

AD is a dominantly inherited genetic disorder that affects memory and cognitive function. AD is associated with the mutation of APP (amyloid precursor protein), PSEN1 (presenilin 1), and PSEN2 (presenilin 2). These genetic mutations are known to play a great role in the abnormal buildup of amyloid plaques that can trigger brain cell death. Inherited forms of AD are associated with early onset dementia (dementia that emerges before the age of 60). According to the Alzheimer’s Association (2025), AD is responsible for 60% of all dementia diagnosis making it the leading cause of dementia globally.

III Biology Overview

AD was first discovered in 1906 by German psychiatrist Alois Alzheimer. As stated before, AD is linked to the mutations of three genes: Amyloid Precursor Protein (APP) gene located on chromosome 21, the Presenilin 1 (PSEN1) gene on chromosome 14, and the Presenilin 2 (PSEN2) gene on chromosome 1. These mutations lead to the buildup of plaque in the brain, leading to brain cell death.

The symptoms of AD are diverse and worsen over time. Cognitive decline is the hallmark of AD and is one of the easiest and most recognizable symptoms. AD consists of three main stages. In stage one (mild AD), individuals have memory loss, confusion then impaired judgment. In stage two (moderate AD), there are mood swings, social withdrawal, and shifts in personality become more apparent. In later stages (severe AD), physical impairments become more pronounced and individuals will have difficulty in speaking, eating, and walking.

IV Human Interaction Repercussions

● Daily Activities and Personal Relationships:

○ Individuals with Alzheimer's disease experience progressive cognitive decline, impacting memory, decision-making, and the ability to perform routine tasks. This deterioration can strain personal relationships and reduce participation in

Alzheimer’sDisease 4 social activities.

● Communication Challenges:

○ Alzheimer's affects language skills, leading to difficulties in finding words, constructing sentences, and understanding conversations. These challenges can result in frustration and social withdrawal.

● Alternative Communication Methods:

○ To facilitate interaction, caregivers and individuals may adopt strategies such as: ■ Using simple, clear language.

■ Incorporating non-verbal cues like gestures and facial expressions.

■ Maintaining eye contact to enhance understanding.

■ Creating a calm environment to reduce distractions.

V Treatments and Costs

Although there is no cure for Alzheimer’s disease there are several treatments to mitigate the severity of the disease and slow the progression. Cholinesterase inhibitors, like donepezil, are prescribed to patients to improve the communication between nerve cells by preventing the breaking down of acetylcholine (neurotransmitter crucial for memory and learning). Another type of medicine called NMDA receptor antagonists, like memantine, help regulate the activity of glutamine (involved in cognitive functions like learning and memory). More recently anti-amyloid drugs like lecanemab have shown promise as these medicines directly target the amyloid plaques that accumulate in the brain. This slows the progression of AD, especially in the early stages of AD.

In addition to the mental and physical toll, AD also brings a great financial toll, bringing burdens on families, welfare workers, and healthcare systems. In 2020, the estimated healthcare costs of AD in the United States was estimated to be $305 billion, with a significant portion going towards nursing, home care, and hospice care (Wong, n.d.). Beyond direct expenses, families faced financial out of pocket expenses. Caregivers specialized to tend to AD patients cost almost

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twice as much as those who are not ($12,388 vs. $6,667). Most of these out of pocket expenses come from caregiving supplies, home modifications, and income lost due to reduced working hours (Skaria, 2022).

VI Laws and Support Programs

In light of the escalating public health burden of Alzheimer’s disease, national strategies and policies have been enacted to foster research, care, and patient advocacy. One major one is the National Alzheimer’s Project Act (NAPA), designed to make a coordinated national plan for addressing Alzheimer’s. This bill would expedite finding a cure, better care, and more information for those living with the disease, as well as their loved ones.

There is also a need and role for financial and other community support to help those living with Alzheimer’s cope with the emotional and economic effects. Medicare, Medicaid, Social Security Disability Insurance (SSDI), and Supplemental Security Income (SSI) are government programs

that offer different types and amounts of assistance that go to pay for medical care, long term support, and for some—everyday living. Nonprofit organizations such as the Alzheimer’s Association and the Alzheimer’s Foundation of America, also provide extensive resources — from caregiver support groups to educational materials, advocacy and research funding — to enhance quality of life and form a network of support for patients, families and caregivers.

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Conclusion

Finally, Alzheimer’s disease is a debilitating neurological disorder that progressively destroys memory and thinking skills, eventually preventing the ability to carry out simple tasks. The existing therapies (e.g., cholinesterase inhibitors, N-methyl-D-aspartate [NMDA] receptor blockers, and new anti-amyloid agents) provide clinical benefit and might slow the progression of disease, but are not entirely curative. The physical, emotional and psychological cost to both the patients and their caregivers is astronomical, emphasizing the need for further research and treatments.

In addition to the medical challenges, the cost of Alzheimer’s disease is overwhelming. From the immediate cost of medical treatment to long-term care and out-of-pocket costs, families frequently endure crushing financial pressure. Thankfully our country’s laws and funding mechanisms, e.g., NAPA, Medicare, Medicaid, and initiatives by advocacy organizations currently provide us some solace. These programs are designed to enhance care, increase public knowledge and fund continuing research. Given the ever increasing prevalence of Alzheimer’s and the aging world population, partners—from governments to researchers to communities—are urgently needed to provide better lives and, eventually, a better chance of Alzheimer’s cure for those impacted.

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References

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Office of the Assistant Secretary for Planning and Evaluation. (n.d.). National Plan to Address Alzheimer's Disease. ASPE. https://aspe.hhs.gov/national-plan-address-alzheimers-disease Skaria, A. P. (2022, September 12). The Economic and Societal Burden of Alzheimer Disease: Managed Care Considerations. American Journal of Managed Care. Retrieved May 17, 2025, from https://www.ajmc.com/view/the-economic-and-societal-burden-of-alzheimer-disease-managed-ca re-considerations

Wong, W. (n.d.). Economic burden of Alzheimer disease and managed care considerations. PubMed. Retrieved May 17, 2025, from https://pubmed.ncbi.nlm.nih.gov/32840331/