PROGERIA (HUTCHINSON-GILFORD SYNDROME)

WHAT IS PROGERIA?

• It's considered an autosomal dominant condition
• This means that just one copy of the gene is enough to cause the disease

WHY/HOW IS IT CAUSED?

• HGPS is caused by a mutation in the gene called LMNA
• This gene is responsible for producing Lamin A protein.
• Lamin A is the structure that holds the nucleus of a cell together.
• If it is not produced, the cell becomes unstable. This causes premature ageing.

HOW COMMON IS HGPS?

• It's estimated to occur at one per eight million births.

SYMPTOMS

• Slowed growth
• Below average height and weight
• Visible veins
• Fragile bones
• Cardiovascular disease
• Shorter life span (child; average 13 years but some can live less or up to 20 years

TREATMENT

• Currently there is no cure available for progeria.
• There is more treatment coming along with more research, one of them is Lonafarnib used to treat cancer and has been proven to improve the health of children with progeria.

TECHNOLOGY AND PROGERIA

• A diagnosis can be done by performing a LMNA test
• Research is continuing on to find a cure or alternatively, treatment.

BIBLIOGRAPHY

• www.mayoclinic.org
• www.progeriaresearch.org
• www.medicalnewstoday.com