Abstract

Alzheimer Disease (AD) is an autosomal dominant nervous system disorder that affects the brain and causes dementia and loss of brain function (University of Utah, 2012). AD is the most common form of terminal and progressive dementia without a cure, and the 6th leading cause of death in the USA, in addition, 5% of AD is familial (hereditary) disease and are considered an early onset of AD affecting people within the age of 30-60 years old (American Health Assistance Foundation (AHAF), 2012). On the other hand, the late onset type of AD affects people above 60 years old (AHAF, 2012). About 5 million Americans currently suffer from AD in the US. In 2010, CDC reported approximately 82,000 AD related death, and about 5 million Americans currently suffer from AD. In 2012, approximately 500,000 more patients were added to the list and about $200 billion was spent for AD healthcare. By 2050, it is estimated that 15 million Americans will be diagnosed with the disease (AHAF, 2012). Currently, the worldwide population of AD is approximately more than 36 million, and by 2030, the number will rise to more than 67.5 million, and 115.4 million patients by 2050 worldwide (AHAF, 2012). Therefore, for a disease that has no cure, this number is a cause for alarm and a huge concern to the scientific community and families across the globe. For these reasons and in this case study we will focus on the cause of the disease, palliative associated-cost, early detection and the current scientific breakthrough of Alzheimer’s disease.

Neurological Disorder Case Study

In 1906, a German doctor by name Alois Alzheimer discovered plague deposits in the brain of a dementia patient he was treating. Although AD has been in existence, his scientific discovery was the first thoroughly documented incidence where a scientist had a scientific examination of a plaque brain from a dementia patient (University of Utah, 2012). Despite the fact that scientists have not fully understood the causes of AD, it has been documented that several genes including Apolipoprotein E (ApoE) genes located on chromosome 19 and environmental factors are contributors of AD. Also, mutations in chromosome 1, 14 and 21, have been linked to rarer form of Alzheimer’s disease (University of Utah, 2012). Thus, the prevalence of AD is multi-factorial.

ApoE genes codes for an apolipoprotein, a form of low density lipoprotein (LDL). LDL enhances differentiation of neurons and catabolizes neurotoxins like beta-amyloids. Thus, Tau proteins, Beta-amyloids and plaque accumulation in an AD patient’s brain is common. There are 3 forms of ApoE genes ApoE2, ApoE3 and ApoE4. ApoE2 and ApoE3 protect the brain against AD while the ApoE4 is the type that causes AD (University of Utah, 2012). The ApoE2 codes for apolipoprotein E2 with one cysteine at location 112 and arginine at position 158. ApoE3 codes for apolipoprotein E3 with 2 cysteine amino acids at position 112 and 158. On the other hand, ApoE4 codes for apolipoprotein E4 containing 2 arginine at position 112 and 158 (Hain life science, 2012). Scientists now believes that 94% of hyperlipoproteinaemia apolipoprotein E type III are homozygous for ApoE2 allele while ApoE4 carriers with less ApoE protein in the blood has been linked to arteriosclerosis (Hain life science, 2012).

Alzheimer’s disease could be a familial (hereditary) disease which may start to develop within individuals on or before 30 years old. Also, AD could develop as a non-hereditary disease within individuals from 65 years old and up (AHAF, 2012). Whichever the case may be, this terminal and progressive brain disease has no cure and gradually destroys memories, neurons and metal functions of its victims.

In the US, AD is diagnosed in one person every 69 seconds (AHAF, 2012). In 2011, the national cost for this disease in the US alone for people over 65 year was $183 billion, and by 2050, the national cost will rise to $1.1 trillion, a burden that will weigh heavily on any country’s GDP if nothing is done to prevent the disease (AHAF, 2012).
An individual who has an AD requires a special caregiver because among all the disease that causes dementia such as Parkinson’s, Huntington’s or Creutzfeldt-Jacob disease to mention but a few, 70% of AD is reported in all dementia cases. The rate of dementia outcome resulting from an AD clearly shows how severe this disease is (AHAF, 2012). On average, AD patient’s lifespan from the times of diagnosis is between 8 to 10 years, or 3 to 4 years if the patients are over 80 years old; Moreover, the average caregiver’s cost for an AD patients is about $37,572 a year, which is more than doubled if the family requires additional special room and care for their loved ones (AHAF, 2012). In fact, the only available options for the families affected with this devastating disease will do is to be prepared mentally and emotionally to cope with the situation and reach out to some organization such as Alzheimer’s foundations for helpful resources, social needs and so forth.

Because AD is a multifactorial disease, it is difficult to use one factor for the diagnostic process. Mutations in Apolipoprotein E4 (ApoE4), Amyloid beta (A4) precursor protein (APP), Presenilin 1 (PSEN1) and Presenilin 2 (PSEN2) may cause the disease. For the APP gene, any alteration in the APP sequence gene may result in improper production of toxic amyloid fragments deposits, in the brain. Alterations in the PSEN1 or PSEN2 will result in non-cleavage of amyloid precursors thus resulting in high buildup of amyloid protein clusters or plaques, thereby causing nerves or cells’ death in the brain (Genetic home reference, 2012). People with any of the AD causing-mutations is at high risk of developing the disease, needless to imagine an individual with multiple mutations on several known genes that cause AD. Moreover, an individual with heterozygous dominant allele is at risk, but an individual with a homozygous dominant allele is at higher risk of developing the disease. However, extrinsic factor such as an environmental factor exposure, inextricably plays a vital role in disease prevalence.

Nonetheless, new studies suggested that the disease could be detected earlier, at least 10 years before the disease develops. This new study suggests that 50% of people with mild cognitive impairment (MCI) end up developing AD within 5-10 year (Goodman, B. 2012). The study detected that individual with MCI had deposits of beta-amyloid and tau proteins in their spinal fluid. In addition, it was found that 9 out of 10 patients with high levels of Tau and Beta-Amyloid proteins in their spinal fluid end up developing AD (Goodman, B. 2012). These new breakthroughs may lead to new medicinal product discovery and proactive preventative measures for the disease.
Plasmalogen is an important phospholipid that maintains brain fluidity and other essential brain functions. Plasmalogen is produced in the liver, and it is needed for normal brain functions. A set of studies concluded that low level of ethanolamine plasmalogen is a specific phospholipid that is linked to Alzheimer’s disease. Interestingly, low level of plasmalogens were not linked to other dementia related diseases such as Parkinson’s diseases etc (Wood, Mankidy, Ritchie, et. al. 2010). In addition, this new information once validated by further research, may suggest a liver transplant and plasmalogen supplement as an alternative treatment to mitigate the low level of plasmalogen in the brain.

References

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Genetic Home Reference. (2012). Alzheimer’s disease. Retrieve from http://ghr.nlm.nih.gov/condition/alzheimer-disease
Goodman, B. (2012). Clue to Alzheimer’s Disease Found in Spinal Fluid:
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WebMed.com. Retrieve from http://www.webmd.com/alzheimers/news/20120103/clue-
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Hain Lifescience. (2012). Geno Type ApoE. Retrieve from http://www.hain-
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Wood, P., Mankidy, R., Ritchie, S., et. al. (2010). Circulating plasmalogen levels and Alzheimer Disease Assessment Scale-Cognitive scores in Alzheimer patients. JPN, 35(1), 59-62. Retrieve from http://web.ebscohost.com.ezp.waldenulibrary.org/ehost/detail?vid= 3&hid=14&sid=91e28ad4-a7cc-472bb81c5358defaa053%40sessionmgr10&bdata= JnNpdGU9ZWhvc3QtbGl2ZQ%3d%3d#db=mnh&AN=20040248.