Abstract
A recent three cohorts study reported that the major homozygous allele (AA) of rs3846662, a polymorphism of 3-hydroxy-3-methylglutaryl-Coenzyme A Reductase (HMGCR), was associated with a delayed age of onset (P=0.017) and a decreased risk for developing sporadic Alzheimer’s Disease (AD) (OR=0.521; P=0.0028). The results were reportedly more significant in women and individuals that carried the apolipoprotein E type 4 variant (APOE4), a gene most consistently associated with increased AD risk. While each of the datasets used in their study showed interesting results that suggested that HMGCR plays a role as a potent genetic modifier for AD, none of the studies were unified in their results. We believe that these varied results are caused by the relatively small sample sizes of their datasets (n=574; n=409; n=1232). To better support their assertion, my research performed similar genetic analysis using the Cache County Study on Memory, Health, and Aging, a dataset containing the genetic information and medical history of over 5,000 individuals. While the AA allele of rs3846662 did not show any significant delay in AD age of onset (P=0.33; P=0.1465), I did find the AA allele to provide significant protection (P=0.0425) to all participants, with no significant association to gender (P=0.129; P=0.1105), but significant association with individuals carrying APOE4 and individuals that did not carry apolipoprotein E type 2 variant (APOE2), a gene associated with decreased
Scientists believed in 1995 that there was a genetic influence in over half the cases of Alzheimer's disease. The gene scientists are giving the most consideration to apolipoprotein E gene (ApoE) as the main gene involved in the development of Alzheimer's disease. Everyone has this gene; if they did not, they would not be alive. ApoE carries a person's cholesterol through their blood. The effect that this gene has in terms of the brain is not totally understood. Scientists have found that
Each patient experiences Alzheimer’s in a different way, some people experience little change with AD and some dwindle fast. The patients diagnosed with AD are typically women. Women make up about two thirds of Alzheimer’s patients. Stanford University School of Medicine researchers has found that women who carry the APOE-E4 gene have a more increased risk of developing Alzheimer’s than their male counterparts with the same
There is a reverse dose-response relationship between dementia risk and increased duration of exposure to reserve-enhancing factors over the life course.1 This may be explained by the environment, such as mental stimulation and physical exercise, influencing brain plasticity. Mental stimulation may increase synaptogenesis, and physical exercise may promote non-neuronal components of the brain. The ability of the brain to response to environmental stimuli by adding new neuron or by activating compensatory processes could be influenced by environment and sustained in late life. Also, this study found no evidence of an interaction between genetic predisposition (APOE e4 status) and cognitive reserve factors over the life course on dementia risk. This suggests that protective effects of cognitive reserve on dementia operate independently of genetic predisposition to the disease. Enhancing neuroplasticity by reserve-enhancing factors may compensate for the deterioration of the brain function to the same extent in both APOE e4 carriers and non-carriers. Conclusion of this study is the importance of adopting a life course enhancing cognitive reserve, which prevents or postpones dementia occurrence.
Recent research has shown links between particular genes and Alzheimer’s disease, but in bout 90% of Alzheimer's cases; there is no clear genetic link. With help of standardized diagnostic criteria, physicians can now diagnose Alzheimer’s disease with an accuracy of 80-90% once symptoms occur. However definitive diagnosis of Alzheimer’s disease is possible only through the examination of brain tissue at an autopsy. Scientist still isn’t certain what causes the disease. Scientist is exploring the role of genetics in the development of Alzheimer's disease, focusing on chromosome 19. Rare forms of the disease, which strike people in their 30’s & 40’s often run within families and appear to be related to chromosome 1, chromosome 14, and chromosome 21. Many researchers and physicians are coming to believe that Alzheimer’s disease is a complex disease, probably caused by a variety of influences. To help those are affected by Alzheimer's disease an association has
Early-onset Alzheimer’s is a rare, but fast stage of Alzheimer’s disease. According to Glenn E. Smith, Ph.D., a neuropsychologist at Mayo Clinic, in Rochester, Minn. (2014), Early-onset Alzheimer’s is an uncommon form of dementia that strikes about 5 percent of patients with symptoms before the age of 65. This form of Alzheimer’s has been known to develop between the ages 30 and 40, but that’s very uncommon (Smith 2014). Scientists do not have an explanation of why people get the disease younger than others. Early-onset Alzheimer’s that is hereditary in family members is connected to three different genes that differ from the APOE gene that can increase your risk of Alzheimer’s in general (Smith 2014). The innate conduit of inheritance is much stronger in early-onset Alzheimer’s (Smith 2014). If one has a genetic mutation
Alzheimer's disease (AD) is the most well-known type of dementia, and its prevalence continues to expand. In fact, by 2050 researcher suggests that the prevalence of AD will increase by 225 percent, thereby affecting roughly 13.8 million U.S citizen. In short, researchers and scientists have less than 34 years to slow, stop or end this destructive mental health disorder. The current state of Alzheimer's disease is equally disturbing when considering, “in the United States, one in nine people aged 65 and older has AD (two-thirds of whom are women), and one person develops AD every 67 seconds” (Cummings, Isaacson, Schmitt, & Velting, 2015, para. 3). There are two forms of AD known as sporadic and familial, the latter has a genetic factor; thus,
New research has shown that women are more likely to develop Alzheimer’s than men. Women do live longer than men, therefore makes them prone to develop the disease. There still is some mystery of, about the way women are more likely to develop this disease. Researchers believe that genetics may be a big play in this mystery. In past research, study had shown that the gene APOE-E4 played a role in a risk factor the disease. But recent research has shown that there is still no correlation to whether or not it has a link to
It is estimated that by the year 2050, around 160 million people will be diagnosed with Alzheimer’s Disease (Park, “How Exercise”). Alzheimer’s is a genetic disease, meaning it is passed down through one’s family. Daisy Duarte has had to care for her mother, who was diagnosed with Alzheimer’s Disease, for four years. Seventy-five percent of Daisy’s family has had the disease, so she decided to get tested to see if she carries the gene. “Finding out your genetic destiny can be life altering” (Park, “How Exercise”). Alzheimer’s disease affects many people, but there are ways to slow the process, and maybe even prevent it.
The genetic heritability of Alzheimer's disease, based on reviews of twin and family studies, range from 49% to 79%. Around 0.1% of the cases are familial forms of autosomal dominant inheritance, which have an onset before age 65. This form disease is otherwise known as ‘early onset familial Alzheimer's’ disease. Most of the autosomal dominant familial AD can be attributed to mutations in one of three genes: those encoding amyloid precursor protein and presenilins 1 and 2.
This investigation studies the question: To what extent is Alzheimer’s disease hereditary? To come to a conclusion, seven pieces of research were analyzed regarding their implications on the genetic and environmental factors impacting the etiology of Alzheimer’s. Specifically, four genetic factors were evaluated: the influence of Beta Amyloid Plaques, alcohol dehydrogenase in relation to mitochondrial function, specific Loci, and a twin study to determine relative heritability. The results of these studies indicate a high degree of heritability and genetic factors in Alzheimer’s disease with recognition, to a certain extent, of the relative influence of environmental factors.
The Journal of the American Medical Association reports the latest break through in the study of gene causing Alzheimer’s has pointed to two genes, chromosomes 2 and 19 that cause the disease (7). The article also points out another gene, A polipoprotein E-e4, is also linked to Alzheimer’s disease. According to the Journal of Alzheimer’s disease, Jose Vina and Ana Lloret writes that women are at higher risk of Alzheimer’s due
The three alleles of ApoE (E2, E3, and E4) have been found to show dosage-dependent effects that negatively affects the clearance of amyloid-B plaque, with E4 showing the least clearance whereas E2 being protective (Deane et al., 2008; Holtzman, 2004). Additionally, the increasing amount of E4 alleles increase the risk for AD and lowers the age of onset among late onset familial AD patients (Corder et al., 1993).
Alzheimer’s disease (AD) is a profoundly common form of degenerative dementia that is caused by neurofibrillary tangles and amyloid plaques accumulating in the brain (Sennvik et.al., 2000). The study of the human genome has elucidated gene variants; single nucleotide polymorphisms (SNPs) and mutations which affect the age of onset and the likelihood of developing AD. Understanding the causes of familial AD, the genetic risk factors for AD and the links between AD and other disorders; such as Down’s syndrome, will aid researchers in the diagnosis and treatment of AD.
An irreversible, progressive brain disorder is the best way to describe the disease known as Alzheimer’s. This disease slowly destroys memory, thinking skills, and eventually the ability to carry out the simplest tasks (NIA, 2015). A disease that is currently ranked as the sixth leading cause of death in the United States, but recent estimates indicate that the disorder may rank third, just behind heart disease and cancer, as a cause of death for older people. Most people with Alzheimer’s, symptoms first appear in their mid-60s. Estimates vary, but experts suggest that more than five million Americans may have Alzheimer’s (NIA, 2015).
Alzheimer’s disease affects women considerably more than men due to the lack of hormone oestrogen after a menopause. The lack in this hormone is correlated to an increased risk of the disease. The family history of the condition is also considered because; there are certain risk factor genes which can be passed on within generations e.g.: Apolipoprotein E gene. Other lifestyle factors such as inappropriate diet, smoking, drinking excessive amounts of alcohol and etc are also considered. (Alzheimers Society, 2015)