Download Progeria Presentation.1

Afia Osei-Ntansah
Independent Research
Reservoir High School
Dr. Susan Michaelis
• Learn about Hutchinson Gilford
Progeria Syndrome (HGPS)
• Cause for HGPS
• Effects in Children with Progeria
• Possible Effects in Us (Primary
Research)
• Conclusion
How many of you have ever
seen the movie The Curious
Case of Benjamin Button?
FALSE HEADLINES
Progeria
is a rare disease, but it
doesn’t cause children to
reverse in age, instead they age
quicker.
 Symptoms
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of Progeria include...
dry, wrinkly skin
small jaw
hair loss & balding
growth failure
osteoporosis
and most fatal-cardiovascular disease
Children with Progeria
Raise your hand if
you are taking
Biology or if you
have already
taken it.
 The
mutation responsible for
Progeria was found in the LMNA
gene.
 Even though the mutation is a silent
mutation, it activates a splice site in
this gene.
But what does this all mean?
What are
genes made
up of?
DNA Nucleotides:
A- adenine
T- thymine
C- cytosine
G- guanine
In
Progeria, the DNA sequence of
GGC becomes GGT. So this
change is known a silent
mutation because the amino
acid (the building block for the
protein to be made) of both of
these sequences are the same.
What is a splice site?
(here’s an example with mRNA)
 When
this gene is not spliced properly, a
protein is produced.
•
The name of this protein is progerin
and it quickly builds up in the bodies
of children with Progeria.
•
Research has also shown that it builds
up in our bodies too.
 Children
with Progeria are born looking
normal, until the age of 1 &2.
 It takes time for progerin to start causing
problems.
2 nuclei. Which is not affected
by progerin?
So
because of nuclear blebbing, the
control center or the brain of a cell
is ruined. An unstable nucleus is an
easy target for disease- like the
diseases we see in Progeria.
Farnesyltransferase Inhibitor (FTI)
 The
FTI is able to reverse the strength that
progerin has on cells.
Cells treated with an FTI had
a more normal nucleus.
Diseases were treated, but
not cured.
Left- Progeria cell without FTI
Right- Cell treated with FTI
Weight improved, bone
density improved, heart
muscles were also
strengthened.
Farnesyltransferase Inhibitor (FTI)

It’s effects proved to be limited
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 The
Took more than a year for results to show
Effects wore off quickly
Because it was a very expensive trial, only
50 out of the 200 children who needed
treatment were able to get it
results of the children were still greater
than expected
So now, close your eyes
and imagine how you
think you will look at 80
years old. Raise your
hand and tell me what
you see.
 Wrinkly
skin
 Hair Loss
 Osteoporosis
 Cardiovascular Disease
 Statins
are used in many medications in our
normal population.
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Mostly heart medicines- Levacor, Zocor
And a few bone strengthening drugs
 Research
is being done on how FTIs and
statins may work together better than just
FTIs to stop the prenylation of progerin.
 Prenylation- the addition of hydrophobic
molecules to progerin
 Hydrophobic
molecules make progerin
accumulate faster, because of this, statins
are needed to block this prenylation.
Think about these
similarities. Is it possible that
an aspect of a rare disease
found only in 200 children
worldwide can be related to
the normal aging process?
Progerin is produced in
both normal individuals and
children with Progeria
Diseases found in children
with Progeria are also
found in the elderly.
Progerin is what causes
these diseases in children
with Progeria.
Can progerin
cause age-related
diseases in the
normal aging
population too?
 Dr.
Susan Michaelis, Department of Cell
Biology at John Hopkins University
 Dr. Junko Oshima, Molecular and Cell Biology
at UW
 Dr. Ingrid Harten, Biology of Aging (progeriod
syndromes) at UW
 Dr. Tom Misteli, Senior Investigator at the NIH
 Dr.
Harten at the University of Washington
says, “we make a little bit of progerin all the
time and it builds up and by the time that
you are 70 or 80, you can see it and by then
it will start to cause some problems.”
 Dr.
Susan Michaelis says, “This could be [a
factor for aging] and it could be a really
important factor in some people and not very
important in others.”
 Dr.
Misteli a senior investigator at the
National Institutes of Health (NIH) also says,
“I don’t think it’s the reason why we age, but
I think it certainly contributes.”
Progerin could be a contributing factor to
aging in the elderly. There is a lot that is
known about normal aging. This insight can
be used to treat children with Progeria
even better- giving mopre children hope.

http://www.impawards.com/2008/curious_case_of_benjamin_button_ver12.html
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http://giggsey.com/videos/index.php?type=films&film=565
http://simple.wikipedia.org/wiki/Alternative_splicing
http://www.imetum.tum.de/forschung/epigenetik/ allgemein/
http://en.wikipedia.org/wiki/Progeria
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http://www.ridersplus.com/articles/clubs_and_rides/Ride_for_Progeria_printer.php
http://vectorblog.org/2012/09/first-ever-drug-trial-reverses-some-signs-of-aging-in-progeria/
http://www.intechopen.com/books/genetic-disorders/hutchinson-gilford-progeria-syndrome
http://abcnews.go.com/topics/lifestyle/health/progeria-syndrome.htm
http://www.laprensatoledo.com/Stories/2006/December27,2006/Kaylee.htm
http://www.scatterweb.net/top-10-weird-medical-conditions-that-are-still-not-fully-understood/
http://teamcarlyq.com/
http://www.youtube.com/watch?v=trFBZprV_eU
http://www.pinterest.com/Haleyrg123/progeria/
http://www.fia-lee.blogspot.com
sharron-harrysstory.blogspot.com
http://www.nj.com/news/local/index.ssf/2010/07/verona_family_is_hoping_for_a.html
http://www.astrochem.org/sci/Nucleobases.php
http://www.dailymail.co.uk/news/article-2537843/Touching-tribute-penned-Patriots-owner-Robert-Kraft17-year-old-rare-disease-died-HOURS-BEFORE-guest-honor-Patriots-play-game.html
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http://www.vyperlook.com/amazing-incredible/hayley-okines-14-year-old-teenager-progeria-105-old
http://facepunch.com/showthread.php?t=1215772
http://www.wisegeek.org/what-is-a-banana-bag.htm
http://www.jerebeasleyreport.com/2008/12/capitol-hill-nursing-home/
http://www.progeriaresearch.org/
http://home.comcast.net/~neilswidey/fasttimes.htm
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http://myhome.sunyocc.edu/~weiskirl/water.htm
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