Mutation Spectrum Analysis of Alzheimer’s Disease

2064 Words5 Pages
bulb-icon

Recommended: alzheimer's disease peom

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.

Show More
Related

  • Caring for a Person with Alzheimer's Disease

    2109 Words  | 5 Pages

    The sixth leading cause of death in the United States, Alzheimer’s disease afflicts approximately 5.2 million persons age 65 and over (Alzheimer's Association, 2012). Rapid growth of the older population as the Baby Boomer generation ages will cause unprecedented increases in the number of individuals with Alzheimer’s. It is estimated that by 2025 the number of Wisconsin residents with Alzheimer’s age 65 and older will increase by 30% to a projected total of 127,000 (Alzheimer's Association, 2012).

    Read More

  • Proteogenomics and Gene Annotation

    530 Words  | 2 Pages

    Proteogenomics is a kind of science field that includes proteomics and genomics. Proteomic consists of protein sequence information and genomic consists of genome sequence information. It is used to annotate whole genome and protein coding genes. Proteomic data provides genome analysis by showing genome annotation and using of peptides that is gained from expressed proteins and it can be used to correct coding regions.Identities of protein coding regions in terms of function and sequence is more important than nucleotide sequences because protein coding genes have more function in a cell than other nucleotide sequences. Genome annotation process includes all experimental and computational stages.These stages can be identification of a gene ,function and structure of a gene and coding region locations.To carry out these processes, ab initio gene prediction methods can be used to predict exon and splice sites. Annotation of protein coding genes is very time consuming process ,therefore gene prediction methods are used for genome annotations. Some web site programs provides these genome annotations such as NCBI and Ensembl. These tools shows sequenced genomes and gives more accurate gene annotations. However, these tools may not explain the presence of a protein. Main idea of proteogenomic methods is to identify peptides in samples by using these tools and also with the help of mass spectrometry.Mass spectrometry searches translation of genome sequences rather than protein database searching. This method also annotate protein protein interactions.MS/MS data searching against translation of genome can determine and identify peptide sequences.Thus genome data can be understood by using genomic and transcriptomic information with this proteogenomic methods and tools. Many of proteomic information can be achieved by gene prediction algorithms, cDNA sequences and comparative genomics. Large proteomic datasets can be gained by peptide mass spectrophotometry for proteogenomics because it uses proteomic data to annotate genome. If there is genome sequence data for an organism or closely related genomes are present,proteogenomic tools can be used. Gained proteogenomic data provides comparing of these data between many related species and shows homology relationships among many species proteins to make annotations with high accuracy.From these studies, proteogenomic data demonstrates frame shifts regions, gene start sites and exon and intron boundaries , alternative splicing sites and its detection , proteolytic sites that is found in proteins, prediction of genes and post translational modification sites for protein.

    Read More

  • Dementia: Forgotten Memories

    849 Words  | 2 Pages

    Although Alzheimer’s disease appears to be the most common cause of dementia, “more than 50 conditions are associated with dementia, including degenerative ...

    Read More

  • The Role of Genetics In Alzheimer’s Disease

    3344 Words  | 7 Pages

    Memory plays a significant role in the everyday lives of people of all ages. It allows them to recall information and remember skills that were learned in the past. Memory also organizes past information to help people make current and future decisions. However, imagine forgetting the names of close family members or not having the ability to find your keys every time you want to leave the house. These are some of the struggles that people with Alzheimer’s disease face daily. Alzheimer’s disease was first identified by German neurologist Alois Alzheimer in 1906, and was discovered to have an overpowering effect on explicit memory loss (Gruetzner, 1988). There are two types of Alzheimer’s disease – early onset and late onset. Early onset occurs in patients who are diagnosed before the age of 65 whereas late onset occurs in patients who are diagnosed after the age of 65. In the early stages of Alzheimer’s disease, short-term memory is often lost. As Alzheimer’s disease progresses, problems with long-term memory begin to develop, in addition to short-term memory impairments. Although a lot is known about the symptoms of Alzheimer’s disease, the cause has not been conclusively identified. However, as research continues, new theories about the cause of Alzheimer’s disease are being proposed. This has led to a controversy over whether Alzheimer’s disease is caused by genetics or environmental influences (Gruetzner, 1988).

    Read More

  • Alzheimers Disease

    1096 Words  | 3 Pages

    Alzheimer’s disease is a complex illness that affects the brain tissue directly and undergoes gradual memory and behavioral changes which makes it difficult to diagnose. It is known to be the most common form of dementia and is irreversible. Over four million older Americans have Alzheimer’s, and that number is expected to triple in the next twenty years as more people live into their eighties and nineties. (Johnson, 1989). There is still no cure for Alzheimer’s but throughout the past few years a lot of progress has been made.

    Read More

  • Alzheimer's Disease Essay

    655 Words  | 2 Pages

    There are three different abnormalities that can make up Alzheimer’s disease. The first abnormality is beta-amyloid peptide cut from APP, a membrane precursor protein (Marieb and Hoehn 2013). Too much beta-amyloid is toxic and causes plaque buildup between neurons that reduces levels of acetylcholine which makes is difficult to retrieve old memories and make new ones (Marieb and Hoehn 2013). Another abnormality of Alzheimer’s disease is the presence of neurofibrillary tangles inside the neuron. These tangles consist of tau, a protein that leaves its stabilizing role and binds to another tau molecule forming a neurofibrillary tangle. (Marieb and Hoehn 2013). Neurofibrillary tangles then kill the neuron. The final abnormality of Alzheimer’s disease is brain shrinkage. The brain shrink...

    Read More

  • Alzheimer's Disease Essay

    1509 Words  | 4 Pages

    Alzheimer’s disease is a fatal neurodegenerative disease that becomes more prevalent with age. Discovered by German psychologist Alois Alzheimer in 1906, it is associated with a memory loss, speech impediment, and dementia. In Canada alone, 500,000 people suffer from this terrible disease and the number of cases is predicted to double by 2031[7]. Worldwide, nearly 44 million people are believed to be experiencing Alzheimer’s disease and every 68 seconds, someone in the United States of America develops Alzheimer’s [8]. Alzheimer’s disease is also the sixth leading cause of death in North America. Furthermore, it is the only leading cause of death that is still increasing in prevalence. Not only fatal, Alzheimer’s is also severely crippling for all the friends and family that are affected by the patient. The memory loss and dementia that is directly linked to Alzheimer’s disease can cause the patient to forget the identity of their loved ones. For the people that have known the patient for many years, this can be very devastating. The long and terrible journey from an able-bodied and functioning member of society to a barely self-sufficient person is not a pleasant one. Undoubtedly, Alzheimer’s disease needs to be cured not only for those suffering from the affliction, but for their loved ones who have to endure the fateful journey as well.

    Read More

  • Alzheimers Disease

    1255 Words  | 3 Pages

    Alzheimer’s can be diagnosed before age 65, although rare, and is caused by a mutation in 3 known genes. About 5 percent of those who are under 65 and possess the ailment have AD in their family history. Given that the symptoms of AD are caused by plaque in the brain, causing loss of nerve cells that help the body communicate with the brain, mutations to these genes; amyloid precursor protein, presenilin 1, and presenilin 2 cause a excessive production of certain proteins (primarily a B-42 form of amyloid protein), and therefore spark an excessive growth of plaque cells which are toxic to the neurons of the brain. For those cases of Alzheimer’s that occur after age 65, a genetic mutation has yet to be proven, although some may be linked, to the fact that a difference may cause an increased chance of developing the ailment. Whatever the case may be for patients over 65 years old, the disease and its symptoms are caused by neurofibrillary tangles of almyloid plaques. It is impossible for someone to test positive for Alzheimer’s Disease, because the only way to determine an affirmative case i...

    Read More

  • Alzheimer's Disease Essay

    750 Words  | 2 Pages

    Alzheimer’s disease (AD) is one of the leading causes of death in America and there are currently more than five million people living with the disease (Alzheimer’s Association, 2014). What may be most troubling about these numbers is the fact that Alzheimer’s disease has no current cure. Alzheimer’s disease is a neurocognitive disorder and a common form of dementia that will affects a person’s memory, way of thinking and their behavior (Alzheimer’s Association, 2014). AD typically develops slowly and the more time a person has the disease the worse the symptoms will become. AD in its later stages becomes so severe that people with the disease cannot even do simple daily tasks. Although there is no cure there are still ways to prevent, delay, and possibly treat the disease.

    Read More

  • Alzheimer’s Disease

    2552 Words  | 6 Pages

    Alzheimer’s disease (AD) is a progressive, terminal, degenerative brain disease. It is the fourth leading cause of death in adults and currently affects over four million people in the United States. This number is expected to increase over the next several years as the baby boomers age, until it reaches fourteen million by the year 2025.

    Read More

  • Alzheimer's Speech Outline

    810 Words  | 2 Pages

    Thesis/Preview Statement – Alzheimer’s disease (AD) causes a decline in brain function, it destroys healthy nerve cells. Today, we have discussed Causes, Symptoms, and Diagnosis of AD.

    Read More

  • Alzheimer's Disease

    2171 Words  | 5 Pages

    ...hed and streamlined to allow for earlier diagnosis. In the case of tertiary prevention, the pharmaceutical companies have a huge financial incentive to create a cure for Alzheimer’s but that is not enough. More government funded research should be dedicated towards finding methods to delay or cure Alzheimer’s disease. The baby boomer generation has already entered their 60’s. As people live longer, as a result of new treatments for common killers such as heart disease and cancer, the chances that they will succumb to Alzheimer’s increases. Failing to find preventative or curative measures will be costly. On a personal level, Alzheimer’s disease slowly attacks cognitive function-the higher thought processes; individuals degenerate into infantile dependents. The cost of caring for increasing numbers of such dependents will be a burden on both family and society.

    Read More

  • Alzheimers Disease

    1177 Words  | 3 Pages

    Cummings, Jeffrey L., Cole, Greg. “Alzheimer Disease.” Journal of the American      Medical Association. May 2002: 287-18. Health Source. EBSCOhost. Utica      College Lib. 15 Apr 2005. .

    Read More

  • Dementia And Dementia

    548 Words  | 2 Pages

    Dementia is a major neurocognitive disorder that interferes with the independence of the elderly by inhibiting memory and thinking skills. Fifty to eighty percent of dementia cases constitute of Alzheimer’s diagnoses; consequently Alzheimer’s disease is the most common type of dementia and currently affects 5.2 million Americans. Most of these cases are patients above the age of 65 and by 2050; 13.8 million Americans in total will suffer Alzheimer’s due to aging of the general population, specifically the baby boomers. Total cost to society ranges from $157- $215 billion (Associated Press). Some would assume the cost of Alzheimer’s to be incurred by pharmaceuticals or medical costs, however RAND Corp suggests dementia cost to society is from care rather than treatment. Therefore, assistance provided by informal providers and directs caregivers incur a majority of the financial and social cost. Currently, the workforce does not have the capacity or training to care for these unique patients; the delivery system needs to address Alzheimer’s as the population ages and more and more fam...

    Read More

  • Essay On Alzheimer's Disease

    1302 Words  | 3 Pages

    Alzheimer’s Disease is named after a German doctor, who specializes in the brain and nervous system, named Alois Alzheimer. This Disease forms in the brain. Alzheimer’s is the most common form of Dementia, a general term for memory loss and other intellectual abilities serious enough to enter. The Tau protein ensures the tubes in your brain stay straight allowing molecules to pass through freely. In Alzheimer’s Disease the protein collapses into strands or tangles, making the tubes disintegrate. There is visible differences of brain tissue in the from misfolded proteins called plaques and tangles. Beta-Amyloid clumps block signals and communication between cells in the brain. Researchers agree that Alzheimer’s Disease is m...

    Read More

More about Mutation Spectrum Analysis of Alzheimer’s Disease

Open Document