PROGERIA By Monica Cruz Mutation in the gene

PROGERIA By: Monica Cruz

• 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

• Known as Hutchinson-Gilford Progeria Syndrome (HGPS) • Progeria is a genetic disorder that causes children to age rapidly, beginning in their first two years of life. • The name is Greek and means “ prematurely old. “ • single dominant allele • It effects 1 in 8 million newborns worldwide • The condition is rare/ Genetic disorder

• 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 • live only up to 13 years

• 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.

• 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

• www. progeriaresearch. org • www. medicalnewstoday. com/articles/ • www. mayoclinic. com/health/progeria/ • www. rareglobaldiseases. com/progeria_histor y. php