Showing posts with label Alzheimer's Disease Genetics. Show all posts
Showing posts with label Alzheimer's Disease Genetics. Show all posts

Monday, June 23, 2014

Alzheimer's Disease Genetics

Alzheimer's Disease Genetics
Alzheimer's disease is a common disorder affecting the central Nervous system and the brain, and has been found to be a common cause of dementia.



The basic mechanism in this disease is the formation of plaques on the brain. The amyloid cells are broken down by the enzyme beta-secretase in to smaller cells. These smaller cells then keep on accumulating and piling on each other and then finally the brain gets covered with these plaques. Theses plaques lead to the Alzheimer's disease. There are various stages of this disease, like the initial loss of intelligence. The patient loses the ability for abstract thinking, judgment, and solving of problems.



Next it progresses to Memory impairment, where events of recent happening are forgotten.



Next it progresses to the changes in personality and also in emotional outlook. All these are the late changes in the progress of the disease.



The Alzheimer's disease is not a simple process. It involves many complex factors like multiple genetic defects or mutations in the genes. These mutations can be either hereditary and passed on from generation to generation. Or it may be acquired through increased susceptibility, which in turn may be due to various other factors.



The genomics or the study of the genetic progress of the disease has revealed that the Alzheimer's disease is caused due to the aging process. The aging process either accelerates the damage of the brain cells or when the person is exposed to deleterious environmental processes. The intake of certain drugs can also cause the harmful effect.



The multiple defects in the genes are at the following mutational loci (APP, PS1, TAU, PS2) and many other different susceptibility loci (APOE, AACT, A2M, TNF, BACE, BCHE, NOS3, GSK3B)



All these loci are spread across the human genome and they all meet together to effect the deleterious changes. The combined effects of these loci lead to untimely and premature death of the neurons. The neurons are the brain cells and thus it leads to death of the brain cells. This is the mechanism of loss of function of these cells and a resultant psychiatric disease.



The damage to the neurons are in various forms like aberrations in the protein content of the mitochondria, formation of protofibrils, altered function or dysfunction of the ubiquity-proteasome system, injury to the mitochondria, piling up of folded proteins, reactions which not only excite the system but also are toxic, stress etc.






Alzheimer's Disease Gene

Alzheimer's Disease Gene
Alzheimer's disease is one that starts to affect brain cells over a significant period of time. When brain cells start sustaining this damage, the symptoms of Alzheimer's show up and these brain cells slowly start to die off. Once the dying of brain cells begins, some cognitive processes begin to fail, causing effects such as confusion, a decrease in image recognition, memory impairment and a decrease in awareness.



When a sufferer of this terrible disease reaches this stage, it is extremely difficult, and many times it is nearly impossible, to live a normal, independent life. Many who suffer with Alzheimer's need to be reminded of where they are, who they are, the dangers of every day life such as a hot kettle, the names of objects and colors, and even who their very own family members are. There are few moments during which the sufferer is aware of such things, but moments like this will continue to decrease as the disease continues. Currently, the most common cause of the disease dementia is Alzheimer's disease.



There's plenty of research taking place to find out what causes Alzheimer's disease, and how to prevent it, but there are still no clear answers when it comes to why this disease actually develops. It's quite clear that a lot more research will be needed before anyone can come close to answering this question. What is known to a great deal of certainty is the fact that once the disease begins, it progresses quite rapidly, and quick steps need to be taken to try and inhibit the rate at which this disease affects the brain, and this is done usually through medication.



Another important aspect that most researchers and experts agree on is the fact that there is nearly always a greater risk of developing Alzheimer's if there is a history of the disease in the family. This points to the fact that genes are involved in the appearance of this disease.



Many years of research have given us the conclusion that there are two genes that play a role when it comes to the development of Alzheimer's. The first gene is called the Risk Gene. Namely, this means that people who have this gene have a higher risk of getting Alzheimer's disease than those who do not have this gene. The second gene is known as the deterministic gene, and, as the name suggest, this gene is important because it guarantees whether or not someone will have to deal with Alzheimer's at some point in their life.