Loading presentation...

Present Remotely

Send the link below via email or IM


Present to your audience

Start remote presentation

  • Invited audience members will follow you as you navigate and present
  • People invited to a presentation do not need a Prezi account
  • This link expires 10 minutes after you close the presentation
  • A maximum of 30 users can follow your presentation
  • Learn more about this feature in our knowledge base article

Do you really want to delete this prezi?

Neither you, nor the coeditors you shared it with will be able to recover it again.



A genetic disorder to be aware of.

Kristen Ellis

on 28 September 2012

Comments (0)

Please log in to add your comment.

Report abuse

Transcript of Progeria

By: Asia Johnson, Niya Carrington,
and Kristen Ellis By: Asia Johnson, Niya Carrington,
and Kristen Ellis Progeria Progeria Jonathan Hutchinson discovered it in 1886 and Hastings Gilford later rediscovered in 1897. This is why it is known as the Hutchinson-Gilford Progeria Syndrome (HGPS)
Hutchinson studied a 6 year old boy whom he noted to have an absence of hair as well as atropy of his skin. Hastings studied this patient as well and actually coined the term Progeria for the disease. Hastings also documented his findings with pictures of the ailment from infancy to age 17 in his case study which was later published in 1904. His pictures depicted the hair loss, fat loss, and premature aging demonstrated in both Hastings' and Hutchinson's findings.
The isolation of the Progeria gene in October of 2002 and April 2003 led to discovery of the mutation. The History Progeria is a rare and fatal genetic condition that causes accelerated aging.
Progeria actually means "premature aging" or "prematurely old".
There are two major types:
Type l Progeria: Hutchinson-Gilford Progeria Syndrome occurs in adolescence. It is not heriditary, being that most children die before getting the chance to reproduce, but the most classic type is Hutchinson-Gilford Progeria Syndrome (HGPS).
Type ll Progeria: Werner's Syndrome occurs in the late teen years and is often referred to as "adult progeria". It has been proven to be hereditary and the life span ranges from the 40's to 50's.
HGPS is the type most people are referring to when talking about Progeria and is also the type that our focus will be on.
It affects both sexes equally
It occurs once in every 4-8 million newborns
Most common among American children and Caucasians.
Has been reported in Algeria, Argentina, Australia, Austria, Belgium, Brazil, Canada, China, Columbia, Cuba, Denmark, The Domican Republic, Egypt, England, France, Germany, India, Ireland, Israel, Italy, Japan, Libya, Mexico, Morocco, Netherlands, Pakistan, Peru, Philippines, Korea, Spain, Sweden, Switzerland, Turkey, United States, Venezuela, and Yugoslavia. What is Progeria? The Genetic Basis Effects and Symptoms Diagnosis and Prognosis Diagnosis
Initial Clinical evaluation including appearance and medical records.
Blood tests for gene Prognosis
a newborn progeria patient appears normal but within a year their growth rate slows down. They become shorter and weigh much less then other kids their age
Become bald, older/leathery looking skin, pinched noses, small face and a jaw that is the size of their head.
Get stiffness in joints, hip dislocation, and severe cardiovascular disease.
They die in their early teen years from heart attacks or strokes.
They don't go into puberty or develop sex hormones. Born healthy looking children
Accelerated aging around 18-24 months of age
Signs include: growth failure, inability to have or loss of body fat and hair, aged-looking and thinness of skin, stiffness of joints, hip dislocation, osteoporosis, and generalized atherosclerosis (hardening of the arteries).
They also die from ailments that affect the elderly such as cardiovascular (heart) disease and stroke.
Look similar despite different ethnic backgrounds
Death occur around age 8-21 (average 13) although deaths have been recorded at ages as low as 5 ad as high as 26. Treatment Works Cited
(MLA Format) Great News:
Recent clinical drug trials in the Boston's Children Hospital have revealed a new treatment for Progeria. In September of 2012, a clinical trial was conducted using FTI's to treat Progeria patients.
FTI (farnesyltransferase inhibitor): drugs developed to inhibit certain cancer-causing proteins that require farnesylation for function
Basically, what FTI's do is stop the production of prelamin A so that it doesn't have the chance to mutate.
It has led scientists to believe that it is the buildup of abnormal prelamin A protein or Progerin in the wrong place rather than a lack of prelamin A protein that was the problem. All patients improved in terms of slowing and reducing the effects of Progerin. Progeria affects the gene called LMNA (lamin-a)
The LMNA gene produces prelamin A protein.
The prelamin A protein has a farnesyl on its end that helps it attach to the nuclear rim.
Once prelamin A is attached, then the farnesyl detaches and leaves.
Prelamin A becomes Lamin A protein and can now function with Lamin B and Lamin C as structural components for the nucleus of the cell.
With Progeria:
In LMNA, there are 25,000 base pairs and within these 25,000 pairs, only one is miscoded. A point mutation occurs at #1824: a cytosine is switched for a thymine. Most have this mutation while few others have a point mutation at #1822 where a guanine is switched for an adenine.
This causes the transcription process to stop and the resulting prelamin A protein is missing 50 amino acids.
This protein, now called Progerin, attaches to the nuclear rim instead of Lamin A and causes the nucleus to have an abnormal shape.
Lamin A , along with Lamin B and Lamin C, is a protein that acts as a skeleton-like structure that holds the nucleus of a cell together.
Defective Lamin A proteins make the nucleus unstable.
The cellular instability leads to premature aging. The Progeria Research Foundation AlbetaPons, . 2011. Photograph. WikipediaWeb. 20 Sep 2012.
Gul, M. Rehan. "PROGERIA." Web log post. Medic4Health. 16 July 2010. 26 Sept. 2012 <http://www.medic4health.com/2010/07/progeria/>.
***Johnston, S.R.D., and L.R. Kelland. "Farnesyl transferase inhibitors - a novel therapy for
breast cancer." n. page. Web. 12 Sep. 2012. <http://erc.endocrinology-journals.org/content/8/3/227.full.pdf>.
***Machamara, B. G. P., K. T. Farn, A. K. Mitra, J. K. Lloyd, and A. S. Fosbrooke. "Progeria:
Case Report with Long-term Studies of Serum Lipids." Archives of Disease in Childhood 45 (1970): 553-60.
"Progeria: History, Causes and Symptoms." Progeria: History, Causes and Symptoms.
N.p., n.d. Web. 19 Sept. 2012.
"WiseDude.com." What is Progeria?. N.p., n.d. Web. 01 Sep 2012.
Young, SG, LG Fong, and S Michaelis. "Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis. ." Journal of Lipid Research. n. page. Web. 27 Sep. 2012. <http://ukpmc.ac.uk/abstract/MED/16207929/reload=0;jsessionid=YSlGnoUQZIsAJDc8FBKC.0>.
***=peer reviewed sources Extra Information F. Scott Fitzgerald wrote a book, later turned into a movie known as 'The Curious Case of Benjamin Button' the only difference is that in BB, it's like reverse progeria. (born old, get younger)
"Paa" is a Hindu film featuring a young child with Progeria that was released in 2009. Ontlametse Phalatse Public Awareness T-shirts
Flyers and Signatures
PSA ( 125 views as of 9/27) The Progeria Research Foundation (PRF) was founded in 1999 and could be considered the most influential progeria foundation in effect today. Their purpose is to find treatments and, eventually, a cure for Progeria and its aging-related disorders.
Find the Other 150 Campaign: This campaign was started in
October of 2009, there were only 54 known cases of Progeria. The PRF made it their goal to find the other estimated 150 cases of Progeria. As of September 2012, there are 96 known cases in over 35 countries around the world. Adalia Rose Adalia Rose is a public figure of Texas, that is 5 years old; she lives with Progeria.
She loves to do everything a normal 5 year old would love (sing, dance, play dress-up & try on makeup)
Her thoughts are always positive and she lives each day to the fullest.
There's nothing wrong with her mentally, only physically, but she is still BEAUTIFUL and her personality is amazing. Ontlametse Phalatse 12 year old girl who is also the first African American child to be diagnosed with Progeria. She lives in Johannesburg which is located in South Africa.
She is known to go by "the first lady" due to her quote: "I call myself a first lady because I'm the first black child with this disease ... Which other black child do you know with this disease?"
Full transcript