Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic condition where children experience rapid and premature aging. It affects about 1 in 8 million births. Children with HGPS show physical signs of aging like hair loss, aged-looking skin, stiff joints, and heart disease. They typically die of heart attacks or strokes at an average age of 14 years old. HGPS is caused by a mutation in the LMNA gene which produces abnormal lamin A proteins that cause aging defects in the cell nucleus. There is no cure for HGPS currently, but research aims to find treatments to correct the underlying genetic defects and extend patients' lives.

1. Mohnish Rachuru

2. WHAT IS PROGERIA?
• Hutchinson-Gilford Progeria
Syndrome (HGPS)
– Rare, fatal genetic condition
– Accelerated aging in children
– Not sex linked or passed from parent
to offspring
– 1 in 1-8 million
Source: http://www.humandiseases.org/progeria-disease.html

3. SYMPTOMS
• Physical Characteristics: 18-12
months
– Growth failure
– Loss of body fat and hair
– Aged-looking, thin skin
– Stiffness of joints
– Hip dislocation
– Heart Disease Source: http://www.documentingreality.com/forum/f149/progeria-16225/
– Stroke
• Death by heart disease at an

4. RAPID AGING
• Heart Disease
– High blood pressure
– Strokes
– Angina
– Enlarged heart
– Heart failure
• Research provides keys in
treating heart disease
Source: http://www.all2need.com/understanding-heart-disease/

5. causes
• LMNA (Lamin A gene) mutation
Norm
– Produces Lamin A protein al
Nucleu
• Holds the nucleustogether s
• Defect makes the nucleus unstable
– Mutation leads to premature aging
Nucleus with
defect
Source: http://www.medicalnewstoday.com/articles/146746.php

6. diagnosis
• Clinical evaluation
– Appearance
– Medical Records
• Blood test
Source: http://www.medicalnewstoday.com/articles/146746.php

7. IS THERE A CURE?
• No cure
• Finding a cure
– Cell and tissue bank
– Medical & Research Database
• Medical recommendations
• Nutritional recommendations
– “The Progeria Handbook”
• Daily care recommendations
• Basic health facts
• Extensive treatment guidelines

8. Treatment
• No specific treatment
– Low-dose aspirin
– Other medications
– Physical and occupational therapy
– Extraction of primary teeth
• Investigational treatment
– Farnesyltransferase inhibitors (FTIs)
• Drugs that may correct cell defects

9. FOR MORE INFORMATION, GO TO THE
PROGERIA RESEARCH FOUNDATION
WEBSITE
PROGERIARESEARCH.OR
G

10. WORKS CITED
1. “Progeria.” Mayo Clinic. N.p., n.d. Web.
21 Feb. 2012.
<http://www.mayoclinic.com/health/
progeria/DS00936/DSECTION=treatme
nts-and-drugs>.
2. Progeria Research Foundation. N.p.,
n.d. Web. 21 Feb. 2012.
<http://www.progeriaresearch.org/p
rogeria_101.html>.
3. “What Is Progeria?” Medical News
Today. N.p., n.d. Web. 21 Feb. 2012.