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early alzheimers case study
INTRODUCTION TO alzheimer's disease
The Role of Genetics in Alzheimer's
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Alzheimer’s disease is a neurodegenerative disorder affecting memory, cognitive and non-cognitive functions. Studies show that most cases of Alzheimer’s disease pertains to people who are 60 years of age or older; meanwhile, 80% of these cases are due to genetics. The risk of one having Alzheimer’s disease varies with their age and ethnicity. That being said, some elders are obtaining this disease in very late life, nearing their 90’s.
The gene that is usually responsible for Alzheimer ’s disease (AD) is the Apolipoprotein E (APOE gene) which gets its name from encoding for the protein Apolipoprotein. It is on chromosome 19 and has three main alleles on the gene that seem to be responsible for this disease. They are: ε2, containing cysteine at position 112 and arginine at position 158 of the gene, ε3 containing cysteine at both 112 and 158 positions, and ε4 containing arginine at both 112 and 158 positions of the gene. The APOE ε4 allele is the disease’s most prevalent allele. The APOE ε4 allele is the disease’s most prevalent allele. The function of this gene is to regulate cholesterol and triglyceride metabolisms. This shows it is not only coincidental that high cholesterol and diabetes lead to late-onset Alzheimer’s. The APOE ε4 allele was tested and discovered to be so dangerous in 1993. Since, many more studies have been completed on this allele and it has been known to be the main cause of Alzheimer’s disease.
Once all the human genotype was known after using the Human Genome Project, a microarray system used to study over 80 percent of the Caucasian genome for association signals called the 500K GeneChip from Affymetrix was created. This microarray kit was used to confirm that using high-density single nuc...
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...sion, the results point researchers in the right direction proving that late on-set Alzheimer’s is very closely related to this APOE locus, especially the ε4 allele. Further studies may also show that this allele will likely contribute to other diseases as well. With the use of ultra-high density genome, further associations will be made regarding the link between late on-set Alzheimer’s and the APOE locus.
Works Cited
Coon, Keith D. Ph.D.; Amanda J. Myers, Ph.D.; David W. Craig, Ph.D.; Jennifer A. Webster, B.A.; John V. Pearson, B.Sc.; Diane Hu Lince, Ph.D.; Victoria L. Zismann, M.S.; Thomas G. Beach, M.D.; Doris Leung, M.D. “A High-Density Whole-Genome Association Study Reveals That APOE Is the Major Susceptibility Gene for Sporadic Late-Onset Alzheimer’s Disease.” Physicians Post Graduate Press. J Clin Psychiatry 68:4, April 2007: 613-618. (Print)
The disease called Alzheimer’s is the fourth leading cause of death in the United States (Weiner, 1987). It is estimated that the elderly population will double between now and 2030. During this period, the number of elderly will grow by an average of 2.8% annually (U.S. Census Bureau, 2001). By 2050, the number of people with Alzheimer’s is estimated to range from 11.3 million to 16 million (Alzheimer’s Association, 2005). These startling numbers should prompt an examination into one of the leading causes of death among this group of people. Understanding what Alzheimer’s is and the known causes of the disease are a good starting point. For those who have aging family members, knowing the risk factors and warning signs of Alzheimer’s can be beneficial to both the patient and his family. Finally, once the patient has been diagnosed as having Alzheimer’s, a plan for treatment as well as providing the family and caregivers with a support system can help ease those involved through a very challenging, heartbreaking time.
Alzheimer’s disease was first defined in 1906 by a German psychiatrist, Alois Alzheimer. Alzheimer's disease is the most common form of dementia. It is a progressive brain disorder in which the nerve cells in the brain gradually die off. It is estimated that 26 million people world-wide are afflicted by Alzheimer’s and of those, approximately 4.5 million live in the United States. It is said to be the seventh leading cause of death in the USA and the fifth leading cause of death for those over age 65. Seventeen percent of women and ten percent of men age 55 and older can expect to develop Alzheimer’s (apa.org, 2009). Researchers report that this disease is more prevalent in African Americans and Hispanics than in whites (Crandell, Crandell, and Zanden, 2009, p. 578).
Alzheimer’s disease, named after Dr. Alois Alzheimer, is a disease that is on the rise in America and the rest of the world. People should learn as much as they want about this disease, because as you age, your chances of becoming an Alzheimer’s Disease, or AD, patient increases. It is estimated that approximately 3 percent of Americans between the ages of 65 and 74 have the illness, and more than half of all people over age 85 have the ailment.
Alzheimer’s disease is a type of dementia that affects cognitive function in the elderly population. The exact cause of the disease is unknown but may include genetic as well as environmental factors. A progression of specific neurological changes allows the progression of the disease. Short-term memory losses along with dementia are typical symptoms of the disease. A definite diagnosis of the disease currently can only be confirmed by an autopsy. The disease progresses in five stages that will vary with every patient. There is no current acceptable treatment to reverse or stop the progression of the disease.
Alzheimer’s is a result from a combination of factors that cause progressive brain deterioration that affects the memory and behavior of an individual. There are two known risk factors. The first risk factor is age. Alzheimer’s usually affects people older than 60, and rarely affects those younger than 40. The average age
Alzheimer’s disease comes from the last name of a neuro-psychiatrist from Germany, Alois Alzheimer. The disease was first diagnosed when a woman in her early fifties began experience memory problems. “Alzheimer recounted the now famous case of ‘Auguste D.’ a 51-year-old housewife who had been failing mentally for several years. As a result she had been admitted to his care in the Asylum for the Insane and Epileptic…” (Maurer and Maurer 1). After her death, he continued to examine her brain to find causes and explanations for her behavior. He discovered “…classic neuro-pathological signs of plaques and tangles” (Maurer and Maurer 1). “Plaques are chains of amino acids that are pieces of the amyloid precursor protein…tangles are aggregates of the protein tau” (Secko 1). As plaques develop they produce tangles and “these two abnormalities ultimately lead to loss of cognitive function” (Secko 1) Alois Alzheimer’s research has allowed many specialist to conclude that the apolipoproetein E gene may contribute to the disease.
Alzheimer’s disease was discovered in 1906 by German physician Alois Alzheimer. While studying the biopsy of the brain of a fifty-five year old woman who had suffered some type of severe dementia, he noticed some aberrations in her brain structure. The brain appeared shrunken, with enlarged crevasses in the gray matter. Over a century later, we now know that Alzheimer’s is caused by a mixture of chemical and cellular brain abnormalities and the breaking down of cells in the mind. Most of the defects occur in the cerebral cortex, which is the outer gray matter of the brain and the center of most human-like brain functions like memory, language, and thought.
Alzheimer disease generally occurs in people over seventy five years of age; however it does strike people in their forties, fifties, and sixties, but this is rare. When Alzheimer’s disease occurs prior to the age of sixty five, it is referred to as early onset Alzheimer’s.
The author Aubrey Milunsky is the founder and Co-Director of Center of Human Genetics, Inc. He worked as a medical geneticist at the Harvard Medical School and the Massachusetts General Hospital for thirteen years, then became a Professor of Pediatrics and Obstetrics and Gynecology at Boston University School of Medicine. Milunsky wrote this book to help guide his readers through the new and confusing information about the use of the “new genetics” in securing one’s life and health. The most common identified five major genes that lead to Alzheimer’s disease were
International Journal of Alzheimer's Disease. London: SAGE-Hindawi Access to Research, 2009. Web. 30 Mar. 2015
Although Alzheimer’s disease is sporadic in nature with no specific genetic cause, studies have identified Apolipoprotein E genetic variance as a major genetic risk factor for the disease. Apolipoprotein E alleles lead to increased risk of Alzheimer’s disease and act as an aggravating factor with regard to the disease’s progression. Dr. Carter, working under my supervision at Case Western Reserve University, has provided breakthroughs in therapy for Alzheimer’s disease that were previously unnoticed in the field of Alzheimer’s research.
“The presenilin 1 (PS1) gene located on chromosome 14 and the presenilin 2 (PS2) gene located on chromosome 1 are linked to 70% to 80% and 20% to 25% of the early-onset familial form of AD, respectively.”(Alzheimer Disease, 2002) These are mutations of genes that lead to onset of Alzheimer’s between the ages of 45 and 53. The duration of early-onset Alzheimer’s is between eight and eleven years. “Recently scientists have discovered that the gene for apolipoprotein E (ApoE), a protein that moves cholesterol in the bloodstream and can bind to amyloid beta-protein and other proteins, can affect a person's risk of developing the disease.” (Alzheimer Disease, 2002) The ApoE is a naturally occurring gene, and there are two types you could inherit that can affect your risk of getting Alzheimer’s. The ApoE4 increases risk and lower the age for developing Alzheimer’s; while the ApoE2 lowers risk and increases age for susceptibility. (Alzheimer Disease, 2002) There is also research being conducted on the buildup of amyloid plaques, as that is one defining factor of Alzheimer’s. Researchers also have many varying ideas about the buildup of amyloid plaques in the brain. One fact that is known is that there are increased numbers of amyloid plaques in Alzheimer’s patients. Some researchers think that the amyloid plaques are a main factor in the disease, while others think it is a reaction to the
Insulin binds to membranes, which then affects the uptake of glucose, making it difficult for the brain to carry out its regular functions. The lack of insulin receptors creates a build up in the blood serum, also known as hyperinsulinemia. This can lead to inflammation, neuritic plaques, and other forms of nerve cell dysfunction. In addition to insulin levels, genese do play a role in the presence of Alzheimer's. The gene APP, if defected, can be associated with early-onset Alzheimer's, though only a very low percentage. “A defect [in the gene], which codes for amyloid precursor protein, may increase the production or deposition of amyloid beta, which forms the core of neuritic plaques” (Alzheimer's Disease, 2018). APOE2, APOE3, and APOE4 are associated with late-onset Alzheimer's. Those with APOE4 are said to have a hyperactive hippocampus, the area of the brain that deals with emotions and memory. The spike in activity while young leads to brain memory decrease later in life and the hippocampus not working as well. People with the gene TOMM40, along with APOE 3 or 4 are linked to getting the disease before 80 if in a long form of DNA and the short forms after 80 years
There is a disease that runs in my family. This disease has killed my maternal great grandmother, my maternal grandmother, and will soon claim the life of my maternal grandmother’s sister. This disease is Alzheimer’s disease. While there is no gene that you can have that can guarantee you will get Alzheimer’s disease, there is a gene which seems to increase your risk of getting the disease. The gene is called APOE-e4. One of my mother’s greatest fears is that she has this gene and therefore is at high risk of falling victim to Alzheimer’s disease. My mother is not alone in this fear as Alzheimer’s disease is the sixth leading cause of death in the United States today.
Alzheimer’s disease is the most common chronic neurodegenerative disease and is one of the leading causes of deaths in the United States. (11) Alzheimer’s disease, a type of dementia, is a disease that affects the memory, behavior, and thinking of the brain. As time goes by the disease gets increasingly worse, starting off with a slight symptom of short-term memory loss. This is why Alzheimer’s disease is most frequently found among older people, usually in their mid-60s. Since Alzheimer’s is a neurodegenerative disease brought on by apoptosis in the brain. Researchers have found that Alzheimer’s disease mostly affects the brain with misfolded peptides called amyloid-beta peptides. (12) The amyloid-beta peptides show up in the brain in