Presentation on theme: "Progeria Syndrome The effects of age relating to heart disease and stroke."— Presentation transcript:
Progeria Syndrome The effects of age relating to heart disease and stroke
Progeria Syndrome is a rare, fatal genetic condition characterized by an appearance of rapid aging in children. Its name is derived from the Greek and means "prematurely old." While there are different forms of Progeria, the classic type is Hutchinson-Gilford Progeria Syndrome or HGPS.
HGPS is caused by a mutation in the gene called LMNA. The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in progeria.
Although they are born looking healthy, children with progeria begin to display many characteristics of accelerated aging at around 18 to 24 months of age. Signs of progeria include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, dry-scaly skin, limited range of motion, enlarged heart, and high blood pressure.
Children with progeria usually develop and die from atherosclerosis, cardiovascular (heart) disease and stroke at an average age of 13 years (with a range of about 8 to 21 years). The older the effected child is the higher risk they have of suffering from heart attack, stroke and other heart disease symptoms
Although there is presently no treatment or cure for Progeria syndrome, the Progeria Research Foundation helped in the discovery of the gene that causes Progeria which is the first important step in finding a cure.