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Progeria

Genetic Disorder Project
by

gorny corn

on 22 January 2013

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Transcript of Progeria

Genetic Disorders Project Hutchinson-Gilford Progeria Syndrome (also known as progeria) is a rare genetic disease where aging is manifested at an early age. Effects and Symptoms What is Progeria?
• Caused by a mutation in the
gene LMNA (necessary for
producing proteins that
provide stability &
strength to the cells)

• When LMNA is mutated, an irregular
version is produced, called progerin, which attaches to a molecule called farnesyl group to cause progeria

• This disrupts the shape of the cell membrane & its fuction, leading to premature aging. • Loss of eyebrows and eyelashes, and hair

• Head large for the size of the face

• Loss of muscles and body fat

• Wrinkled, scaly, dry skin

• Delayed tooth formation

• High pitched voice

• Stiffness in joints

• Short stature

• Pinched nose

• Bulging eyes Treatments • No cure

• Several effective treatments
developed.

• Progeria Research Foundation found an effective drug that greatly improved the conditions.

• FTI called Lonafarnib:

- helps gain necessary weight

- acquires better hearing, improve bone structure

- increases flexibility of blood
vessels Causes Did You Know... The Effects of Lonafarnib Treatment • Jonathan Hutchinson and Hastings Gilford discovered progeria in 1886.

• There is another type of progeria called, "Werner's Syndrome."

• There is a 1 in 8 million chance of contracting progeria.

• Children with progeria age 6 to 8 times faster than normal people.

• The oldest victim of progeria lived to the age of 29. • Will have normal appearance at birth.

• Growth dramatically stops & symptoms start to appear within a year.

• Most die around the age of 8 to 20, averagely at 13. What Happens Leon Botha Works Cited Kalumuck, Karen E., and Nancy A. Piotrowski. "Progeria." Magill's Medical Guide. Ed.

Irons-Georges, Tracy. Vol. 3. Pasadania: Salem Press Incorporated, 1998. Print.

"Learning About Progeria." National Human Genome Research Institute. National

Institutes of Health. 27 Jun. 2011. Web. 13 Jan. 2013.

"Lonafarnib Proves Effective for Children with Progeria." News Medical.

AZoNetwork. 25 Sep. 2012. Web. 13 Jan. 2013.

Nordqvist, Christian. "What is Progeria?" Medical News Today. MediLexicon

International. 26 Sep. 2012. Web. 13 Jan. 2013.

"Progeria." Boston Children's Hospital. Boston Children's Hospital. Web. 13 Jan. 2012.

"Progeria." Medline Plus. National Library of Medicine. 27 Dec. 2012. Web. 13 Jan.

2013.

"Progeria." Encyclopaedia Britannica Online. Encyclopedia Britannica, 1999. Web. 13

Jan. 2013.

"Symptomps of Progeria." Right Diagnosis. Wrong Diagnosis. 6 Nov. 2012. Web. 13 Jan.

2013. Normal Human Skull VS. Progeria Affected Skull Normal Cell VS. Progeria Cell Normal Cell Progeria Cell Progeria Cell after being treated with FTI Leon Botha was a South African musician,
who died at the age of 26. He was one of
the world's oldest survivors of progeria. Hayley Okines's Book Thank You For Listening By Sarah , Cindy, and Gorn
Full transcript