Alzheimer's By: Anabelle Gregory

What Is Alzheimer Disease?

Alzheimer's is a degenerative disease of the brain causing a gradual loss of memory, judgement, and ability to function. This usually happens to people over the age of 65. However, it can happen earlier in adulthood but is not common. The main sign of Alzheimer Disease is memory loss and forgetfulness. Usually, people can survive 8-10 more years after these symptoms occur.

What Genetic Abnormality Is Responsible?

Early-onset Alzheimer's is caused by a genetic mutation in the DNA. The disorder can be spotted in any of these three genes: APP, PSEN1, and PSEN2. When these genes are altered, a toxin protein fragment called amyloid beta peptide is produced in the brain. This builds up and forms clumps in the brain called amyloid plaques, which are a trait of Alzheimer Disease.

However, the causes of late-onset Alzheimer Disease is not a clear explanation. Scientists say that it is caused by variations in one or more genes but also environmental traits and lifestyle habits.

What Chromosome Is Alzheimers On?

Alzheimer's disease is on a gene called Apolipoprotein E (APOE), located on chromosome 19. It is involved in making a protein that helps carry cholesterol and other types of fat in the bloodstream. The APOE ε4 allele is the major known risk-factor gene for late-onset Alzheimer's disease.

What Is The Phenotype Of Someone With Alzheimer's?

Patients with Alzheimer's disease show a wide variation in clinical phenotype. Genetic research has been concerned with the role of mutations or variants as risk factors for the disease. More recently, genetic association and twin studies have suggested a role for genetic factors in the development of other aspects of clinical phenotype, notably the appearance of non-cognitive symptoms.In Alzheimer's disease genetic variation influences a number of aspects of clinical phenotype

How is Alzheimer's Diagnosed and Treated?

To diagnose that someone has Alzheimer's, doctors may:

  1. Ask the patient and a family member or friend questions about overall health, past medical issues, ability to carry out daily activities, and changes in behavior and personality
  2. Test their memory, problem solving skills, attention, counting, and language
  3. Carry out blood and urine tests to identify other possible causes of the problem
  4. Perform brain scans, such as computed tomography (CT), magnetic resonance imaging (MRI), or positron emission tomography (PET), to rule out other possible causes for symptoms.

There is no routine genetic test, however, there are brain scans.

What Treatment Options Are Available?

There is currently no cure for Alzheimer's. But there are drug and non-drug treatments that help with both cognitive and behavioral symptoms. Some of these medications include donepezil, galantamine, memantine, and rivastogmine. These will help the symptoms but will not make a permanent fix to the disease.

Is Alzheimer's Heredible?

A permanent change in a gene will cause Alzheimer's disease to be passed on to their children. However, if it is just a mutation to the gene that does not completely change the gene, It is not as likely to be passed down. There is no one answer, it really depends on the individual and how the disease affected them.

CITATIONS

https://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-genetics-fact-sheet

Holmes, C. (2002, February 01). Genotype and phenotype in Alzheimer's disease. Retrieved March 05, 2017, from http://bjp.rcpsych.org/content/180/2/131

About Alzheimer's Disease: Diagnosis. (n.d.). Retrieved March 05, 2017, from https://www.nia.nih.gov/alzheimers/topics/diagnosis

Current Treatments, Alzheimer's & Dementia | Research Center. (n.d.). Retrieved March 05, 2017, from http://www.alz.org/research/science/alzheimers_disease_treatments.asp

Written by Colleen M. StoryMedically Reviewed on December 8, 2016 by Timothy J. Legg, PhD, CRNP. (n.d.). Causes of Alzheimer’s: Is It Hereditary? Retrieved March 05, 2017, from http://www.healthline.com/health-slideshow/alzheimers-hereditary#promoSlide

Alzheimer's Disease Genetics Fact Sheet. (n.d.). Retrieved March 05, 2017, from https://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-genetics-fact-sheet

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Anabelle Gregory
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