PROGERIA By: Monica Cruz

What is it? Progeria is a genetic disorder that causes children to age rapidly, beginning in their first two years of life. Rare disorder Autosomal recessive disease An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

How it occurs Mutation in the gene that encodes LMNA (produces lamin A protein /imp. in the membrane) Lamin A- known as a filament protein and a fibrous protein . It provides stability and strength to cells in the nucleus. Out of 664 amino acids coding for this protein only 50 do during mutation. When there's something wrong with this protein it makes nucleus unstable. Lamin A mutation

History Known as Hutchinson-Gilford Progeria Syndrome (HGPS) The name is Greek and means “prematurely old.“ live only up to 13 years It effects 1 in 8 million newborns worldwide If you are born to parents who both carry an autosomal recessive change (mutation), you have a 1 in 4 chance of getting the malfunctioning genes from both parents and developing the disease.

History cont. since 1886, only about 130 cases have been found. A Progeria body ages about 10 times faster than normal first described in England in 1886 by Dr. Jonathan Hutchinson. Dr. Hastings Gilford studied the disorder in 1904 Usually die b/c of a heart attack or stroke

Diagnosis The diagnosis is made during the first or second year with symptoms that include skin changes and failure to gain weight. It is also found that Progeria patients may have the chemical hyaluronic acid found in their urine. Hyaluronic acid – helps regulate the cell growth and it’s a type of polysaccharide Prenatal testing for progeria is possible using amniocentesis. Then the fetal DNA is examined for genetic abnormalities.

Treatments There's no cure Cardiac care ,nutritional, and physical therapy. low dosage of aspirin is used as an attempt to delay atherosclerosis Atherosclerosis- blood vessel walls thicken

Video of Ashley Hegi http://www.youtube.com/watch?v=8D4S3pDjPiU http://www.youtube.com/watch?v=RtDWyNTFngo

Blibliography www.progeriaresearch.org www.medicalnewstoday.com/articles/ www.mayoclinic.com/health/progeria/ www.rareglobaldiseases.com/progeria_history.php www.medterms.com/script/main/art.asp?articlekey=4396w