Mutation Spectrum Analysis of Alzheimer’s Disease

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Introduction: Alzheimer’s disease (AD) is a neurodegenerative disease characterized by progressive memory loss and mental deterioration. AD is the most common form of presenile dementia and is estimated to affect over 4.7 million Americans. Due to the rising cost of health care and the age of onset of the affected individuals, AD has become a serious problem nation-wide. In 2013 the Center for Disease Control (CDC) estimated that around 203 billion dollars have been spent towards AD related health care. The CDC also estimates by year 2050 the number of affected individuals nation-wide will quadruple, and further estimated a national expenditure of 1.1 trillion US dollars (PMID 23507120). The cause of AD remains unidentified despite physicians’ and researchers’ best efforts to identify its cause or a method of treatment. CDC has identified AD as the sixth leading cause of death in the United States, under cancer, heart disease, lung disease, and accidents (PMID 23507120). However, unlike AD, science has made progressive advancements towards the care and treatment of individuals suffering from the other top five leading causes. Soon, the nation should be witnessing AD moving up the ranks of the nation’s leading causes of death. Currently, there is no known cure for AD or any way to slow its progression. An affected individual, on average, lives 8 years form when first symptoms appear (PMID: 19836639). The mechanisms involved in AD pathology are still largely unknown. However, science does know that the beta amyloid (Aβ) peptide is involved in at least some of the pathologies seen in the disease’s progression. Evidence towards Aβ involvement in AD is expressed through the widespread accumulation of the Aβ peptide throughout the ... ... middle of paper ... ...ing a cause, which leads to AD, is imminent. When analyzing all the various pathologies caused by the Aβ peptide in unison, suggests that it may be incorrect to view AD as an individual disease, but as a spectrum disorder, which causes the overall deficits so commonly seen in AD victims. Furthermore, the development of CAA occurs in 90% of patients with AD (PMID: 3551211). This comorbidity of AD and CAA or any other amyloid related pathologies suggests that the interaction between the developing diseases play an important role in the prognosis of AD. The significance of identifying dysfunctions associated with mutations in the APP gene is crucial for the understanding of AD. In doing so, gives scientist the ability to discern whether a dysfunction encountered in AD pathology is a result caused by the disease its self or whether it may be a potential cause of AD.

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