Alzheimer’s Genetic Disease Paper
Alzheimer’s Genetic Disease Paper
Description of the disorder
Alzheimer’s is the most common form of dementia that essentially seeks to destroy brain cells, it is an irreversible disease that currently has no known cure. Each person who is suffering from Alzheimer’s is affected in a different way, however, it is generalized as a fatal disease that consistently affects all the factors in one’s life including making decisions, preforming tasks no matter how simple they may seem and the frequent loss of memories. As the disease progresses, there is an increase in forgetfulness or confusion which leads to many other mental effects such as depression, mistrust in others and irritability and aggressiveness. Alzheimer’s causes difficulty identifying objects or family members, loss of sense such as knowing where or even who they are by disrupting what your brain is attempting to interpret. The age of onset for Alzheimer’s is the age of 65, approximately 34 million people, 5.1 million people are suffering from this disease in the US today. It is estimated that by the year 2025 the number of people suffering from Alzheimer’s will skyrocket 40 percent to 7.1 million people affected. One in three people the age of 85 is living with Alzheimer’s, one in three! The severity of this disease progresses with time. Mild Alzheimer’s includes memory loss and wandering behaviors of the individual, their behavior and personality is either changed or in the process of changing. Moderate Alzheimer’s comes along with more severe damage to the parts of the brain dealing with conscious thought, reasoning and language. People with moderate Alzheimer’s experience a worsening in the loss of memory and an increase in confusion, they also typically loose recognition of their family members and loved ones. As one reaches the severest form of Alzheimer’s, it is expected that they cannot communicate with others and are usually moderately to entirely dependent on others for support and care. The plaques in the brain tangle with one another, resulting in the brain tissue to contract immensely, the individual will most likely be bedridden as their body continues to shut down.
Diagnosis and Treatment for the disease
The diagnosis of Alzheimer’s follows a number of brain scans, memory tests and a discussion with the family regarding overall health concerns, lifestyle and changes in personality or behavior. Brain scans that are commonly used for the diagnosis of Alzheimer’s is a computed tomography (CT), magnetic resonance imaging (MRI), or a positron emission tomography (PET). These scans can show images of the brain that could not be seen otherwise and are also used to rule out other medical causes. The disease results in a progressive degeneration of the brain, by viewing these scans you would be able to point out whether the patient has Alzheimer’s by the level/presence of degeneration. There are two types of drugs that are being used to treat the cognitive symptoms of Alzheimer’s, cholinesterase inhibitors and Memantine (Namenda). Cholinesterase inhibitors help by increasing the levels of communication between cells, since the brain is depleted in chemicals. By using this drug the patient should expect to keep their symptoms under control for a while. Memantine assists in slowing the progression of moderate to severe Alzheimer’s, it also works with the brain cell communication and is sometimes used with cholinesterase inhibitors. Another factor that assists in the diagnosis of this disease is the amount of confusion or increase in forgetfulness of the person, the higher the level, the more of a chance the individual is affected. The only way of being 100% definite in the diagnosis is after the person has died, an autopsy is taken of the brain tissue and examined and also compared to other clinical measures. There is currently no cure for Alzheimer’s, as the disease is rather complex and it is highly unlikely that there will be one drug or another type of intervention can successfully treat it. Treatment methods are currently focused on helping people maintain their mental function, manage behavioral symptoms, and slow or delay the symptoms of disease. Researchers hope to develop therapies using genetic engineering, gene targeting and other cellular mechanisms in order for the actual underlying cause of the disease to be stopped or in the very least prevented.
Inheritance Pattern
Alzheimer’s disease (AD) has been known to continually affect the future generations of those suffering from AD, the inheritance estimates for this disease is from 60-80%. The first study of the inheritance of AD began with examining families who have an autosomal dominant inheritance pattern. The individuals who were affected in these families showed symptoms of AD well before the age of 60, some cases the age was as early as 30. Researchers used linkage analysis, technique that helps to identify the inheritance of genes from parent to offspring, they found three genes that had autosomal dominant mutations that put the spotlight on AD. These genes were amyloid precursor protein or APP, presenilin 1 or PSEN1 and presenilin 2 or PSEN2. The conclusion produced by experiments on these genes was that certain mutations occurring in these three genes correlated to the production of protein β-amyloid, which progresses AD by forming the neuro plaques. It is understood that AD has an inheritance pattern that has a high probability of passing on the disease to the future generations.