Genetic Disorder Project

1. Alzheimer'sDisease
Jessica Holder

2. WhatisAlzheimer’sDisease?
Alzheimer's is a type of dementia that causes problems with
memory,thinking and behavior. Symptoms usually develop slowly
and get worse over time, becoming severe enough to interfere
with daily tasks.

3. Howdoesonegetthisdisease?
Alzheimer’s is hereditary and also environmental factors
dictate rather or not you can get this disease.

4. HowAreYouDiagnose?
There is no single test that can show whether a person has
Alzheimer’s. While physicians can almost always determine the
exact cause. Diagnosing Alzheimer’s requires careful medical
evaluation, including:
❖A thorough medical history
❖Mental status testing
❖A physical and neurological exam
❖Tests(such as blood tests and brain imaging) to rule out
other causes of dementia-like symptoms

5. HowAreyouDiagnose?
A blood test can identify which APOE alleles a person has,
but results cannot predict who will or will not develop
Alzheimer's disease. It is unlikely that genetic testing will
ever be able to predict the disease with 100 percent
accuracy, researchers believe, because too many other factors
may influence its development and progression.

6. Genetics
Genes are involved in Alzheimer’s. To be exact there are two
types of genes that can play a role in affecting whether a
person develops this disease; Risk Genes and Deterministic
genes.

7. Genetics
1.) Risk genes increase the likelihood of developing a
disease, but do not guarantee it will happen. The risk gene
with the strongest influence is called apolipoprotein. This
may be a factor in 20-25 percent of Alzheimer's cases.
2.)Deterministic Genes directly cause a disease, not
guaranteeing that anyone who inherits them will develop the
disorder.

8. GeneslinkedtoAlzheimer’s
The 23 human chromosomes pairs
contain all of 30,000 genes that
code the biological blueprint for a
human being. There are three genes
that cause familial Alzheimer’s. In
the picture, on the right, there
are three genes highlighted that
causes familial Alzheimer’s and the
main gene with the greatest impact.

9. Genes
APOE ε2 is relatively rare and may provide some protection against the
disease. If Alzheimer's disease occurs in a person with this allele, it
usually develops later in life than it would in someone with the APOE ε4
gene.
APOE ε3, the most common allele, is believed to play a neutral role in the
disease—neither decreasing nor increasing risk.
APOE ε4 increases risk for Alzheimer's disease and is also associated with
an earlier age of disease onset. A person has zero, one, or two APOE ε4
alleles. Having more APOE ε4 alleles increases the risk of developing
Alzheimer's.
APOE ε4 is called a risk-factor gene because it increases a person's risk of
developing the disease. However, inheriting an APOE ε4 allele does not mean
that a person will definitely develop Alzheimer's. Some people with an APOE ε4
allele never get the disease, and others who develop Alzheimer's do not have
any APOE ε4 alleles.

10. ChromosomePairs
Amyloid precursor protein (APP)- Is the first gene with
mutations found found to cause an inherited form of
Alzheimer’s.
Presenilin 1 (PS-1)- Is the second gene with mutations
found to cause early-onset of Alzheimer’s. Variations in
this gene are the most common cause of early-onset
Alzheimer’s.
Presenilin 2 (PS-2)- Is the third gene with mutations.
Apolipoprotein E-e4 (APOE4)- Is the gene with the greatest
known impact, however having this gene does not mean you

11. Whatarethechromosomesdoing?
❖In early-onset Alzheimer’s disease,mutations on
chromosome 21 cause the formation of abnormal amyloid
precursor protein (APP)
❖A mutation on chromosome 14 causes abnormal presenilin 2.
■ These mutations play a role in the cleavage of APP, a protein
whose precise function is not yet known. This breakdown is apart
of a process that generates harmful forms of beta-amyloid,which
leads to amyloid plaques, a hallmark of the disease.
❖The “late-onset” form of the disease typically occurs
after age 65. While no single gene mutation is known to
cause this form, evidence of hereditary component is

12. Generaloverview
The symptoms of this disease worsens over time, even though
the rate at which the disease progresses varies. After being
diagnosis, the average rate of living is then four to eight
years, but some have lived as long as twenty years, depending
other factors. Keep in mind there are three stages of this
disease.

13. MildAlzheimer’sDisease(EarlyStage)
In the early stages of Alzheimer’s, a person may function
independently. He or she may still drive, work and be apart
of social activities. Despite this, the person may feel as if
he or she is having memory lapses,such as forgetting familiar
words or the location of everyday objects.
Common difficulties include: Problems coming up with the
right word or name,trouble remembering names when introduced
to new people, having greater difficulty performing tasks in
social,or forgetting material that one has just read, losing
valuable objects and increasing trouble with planning or
organizing.

14. ModerateAlzheimer’sDisease(MiddleStage)
Moderate Alzheimer’s is typically the longest stage and can
last for many years. As this disease increases a person’s
level of care will be higher. A person with this disease may
start to act in unexpected ways, getting angry or frustrated,
they start to confuse words. Damage to nerve cells in the
brain can make it difficult to express thoughts and perform
tasks.

15. Moderatealzheimer’sDisease(Middle-Stage) Continue
At this point in the middle stage you may notice the
following symptoms:
❖Forgetfulness of events or about one’s own personal
history.
❖Feeling moody or withdrawn,especially in socially or
mentally challenging situations.
❖Being unable to recall their own address or telephone
number or the high school or college from which they
graduated from.

16. SevereAlzheimer’sDisease(LAteStage)
In the final stage of this disease, individuals lose the
ability to respond to their environment, to carry on a
conversation and, eventually, to control movement.They may
still say words or phrases, but communicating pain becomes
difficult. As memory and cognitive skills continue to worsen,
personality changes may take place and people need extensive
help with daily activities.
During this stage you may notice: They require around-the-
clock care, lost of awareness of recent events as well as
their surroundings, challenges with physical abilities, high
level of difficulty with communicating.

17. HOwcanitBePrevented?
The Alzheimer's Association continues to fund studies
exploring the influence of mental fitness, physical fitness,
diet and environment,however there is no way to prevented
this disease as of yet.

18. Treatments
As of right now, there is no cure for Alzheimer’s, but
sometimes drug and or non-drug treatments may help with both
cognitive and behavioral symptoms.

19. LifeAfterDiagnosis
After you have been diagnosis with this disease, usually one
will plan for the following:Legal and financial planning, one
would have a plan for their care givers and then plan for
their death.

20. PunnettSquare

21. Pedigreechart

22. Sources
https://www.nia.nih.gov/alzheimers/publication/alzheimers-
disease-genetics-fact-sheet
http://www.alz.org/search/results.asp?q=DNA%20sequence&as_dt=
i#gsc.tab=0&gsc.q=DNA%20sequence&gsc.page=1
http://image.slidesharecdn.com/pathoch21congenitalsum141-
140725075313-phpapp02/95/patho-ch21congenitalsum14-1-23-
638.jpg?cb=1406274971
http://www.geneticcounselling.eu/Images/Images/JPG/ziekte16.g
if