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Biology

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by

Zunaira Chaudhry

on 20 January 2013

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Transcript of Biology

HUNTINGTON'S
DISEASE ! Introduction to Huntington's Disease

~ Huntington’s disease (HD) is also known as Huntington’s chorea ("canada.com")

~ People are unaware that they are born with this defective gene

~ It could start anywhere from infancy to older age

- Effects about 1 out of 10 000 Americans ("thirdage.com") Symptoms for the Disease ~ Symptoms for this disease appear later
on around the ages of 35-44 years

~ Early signs of this illness would be ...("nih.gov")
- uncontrolled movements
- lack of balance
- clumsiness

~Later the symptoms become more severe("nih.gov")
and slowly you can lose your ability to ...
- walk -recognize family
- talk - swallow Treatment ~ Huntington’s disease has no
cure but some medication
can help manage some of the symptoms.

~This medication will not slow down or cure this disease.

~After the signs and symptoms
of this disease appear the
individual may survive only
for another 10-15 years. ("nih.gov") Genetics of the Disease ~ HTT is a gene which is passed on from one generation to the next

~ The official name for this HTT gene is called “Huntington”

~ HTT gene produces a protein called Huntington("nih.gov")

~This protein is unknown but it seems to play a significant role in the nerve cells which is located in the brain specifically the Basal ganglia

~ Huntington’s disease includes a DNA which is known as a CAG segment ~ CAG segment will normally repeat itself 10-35 times
within the gene. ("nih.gov")

~ The process of repeating itself is known as
"trinucleotide repeat".

~ People who have Huntington’s disease, their CAG
segment will repeat itself 36-120 times and sometimes
more.("nih.gov")

~ People who have 36-40 repeats of CAG have a 50/50
chance of developing these signs and symptoms,("nih.gov") Mode of Inheritance ~The Huntington’s disease is inherited through an autosomal dominant pattern; this means that one of the repeated genes in each cell is able to cause the disorder.

~ The HTT gene is passed through generations and for this reason you will not be able to inherit the disease unless you get the gene from one of your parents.

~ If either parent has the HTT gene the child will have a 50/50 chance of inheriting it as well.

~ People who have approximately 27-35 CAG repeated in the HTT gene will not develop the disease but there may be a risk for their children to develop this disorder.

~ When mutations are passed down from parent to child it is called hereditary mutations or germ line mutations.

~ There have been rare cases in which the child has the disease while both of their parents do not and this is known as De novo mutation

~ De novo mutation may explain genetic disorders where the effected child has a mutation within every cell even though there has been no family history of this disorder. Genetics of the Disease Punnett Square Key :

A- Huntingtons gene
a- Normal gene
Aa- HD individual
aa- Normal individual , Pedigree for Huntingtons Disease "Huntington's Disease." canada.com. Postmedia Network Inc, n.d. Web. 10 Jan 2013. <http://bodyandhealth.canada.com/condition_info_details.asp?channel_id=0&relation_id=0&disease_id=72&page_no=2>. ("canada.com") "WIKIPEDIA." wikipedia.org. Wikimedia Foundation, Inc, 18 12 2012. Web. 10 Jan 2013. <http://en.wikipedia.org/wiki/Huntington's_disease>. ("wikipedia.org") "MedlinePlus." nih.gov. National Institutes of Health, 7 1 2013. Web. 10 Jan 2013. <http://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html>. ("nih.gov") Collins, Debra, ed. "Genetics of Huntingington disease." kumc.edu. Department of Neurology , 15 2 1999. Web. 10 Jan 2013. <http://www.kumc.edu/hospital/huntingtons/genetics.html>. ( Collins) "Genetics Home Refrence." nih.gov. N.p., 7 1 2013. Web. 10 Jan 2013. <http://ghr.nlm.nih.gov/condition/huntington-disease>. ("nih.gov") "ThirdAge.com." thirdage.com. ThirdAge Media, LLC. All rights reserved., n.d. Web. 10 Jan 2013. <http://www.thirdage.com/hc/c/q/huntingtons-disease/1550060/what-is-the-frequency-of-huntingtons-disease>. ("thirdage.com") Citations almostadoctor.com. N.d. google.caWeb. 11 Jan 2013. <http://www.google.ca/imgres?q=huntington's disease punnett ("google.ca") wikilectures.eu. N.d. google.caWeb. 11 Jan 2013. <http://www.google.ca/imgres?q=Huntington's Disease ("google.ca") ~ Although there has
been no cure found for
this illness researchers
now see some hope
that whoever is diagnosed with this disease should
do the following...

• diet and supplements
•exercise
•spiritual and psychosocial
support
~ The therapy to treat
Huntington’s disease is
still ongoing. Treatment ("wikipedia.g) [Untitled punnett square] Retrived January 9th 2013. From: http://almostadoctor.co.uk/content/systems/paediatrics/genetics/patterns-disease-inheritance [Untitled huntington's pedigree] Retrieved January 7th 2013. From:http://learn.genetics.utah.edu/content/disorders/whataregd/hunt/ [Untitled duagram] Retrived January 9th 2013. From http://www.kumc.edu/hospital/huntingtons/genetics.html [Untitled Diagram] Retrived January 9th 2013. From: http://learn.genetics.utah.edu/content/disorders/whataregd/hunt/ Thanks For watching my
Prezi Prezentation!!!!!!

The End!!! By: Zunaira Chaudhry ~ Our human body is made of many cells and within each of
our cell there is a nucleus, with the exception of our red blood
cells.

~ Each of these nuclei contain 46 chromosomes meaning 23
are from the mother and the other 23 are from the father.("canada.com")

~ Out of the two types of chromosomes, one of them is the
autosomal chromosome. These are the first 22 chromosomes.

~ Huntington’s disease is an autosomal dominant
chromosome and recent studies have found that
it localized as the fourth autosomal chromosome pair.
("canada.com")

~ Huntington’s disease can affect both males and females
equally with different races and ethnicity

~ Both genders have an equal chance of effecting their children.

~ This illness is caused with the same amount of chromosomes. [Untitled Image] Retrieved January 7th 2013. From:http://www.dianenet.com/familytree/cindy/cindy.html
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