Biology Genetic disorder project
Why I Chose Progeria
I chose to do my research project on Progeria because I once saw Adalia Rose on a day time talk show, and I always wondered more about it, but never got around to it.
Introduction to Progeria Syndrome
Progeria is a disorder that causes a child's body to rapidly age, beginning after the first two years. The first symptoms that start showing in the first year, are slow growth and hair loss(including eyelashes and eyebrows) with below-average height and weight. They have a narrowed face, small lower jaw, thin lips and beaked like nose. they have prominent eyes and incomplete closure of there eyelids. There skin is thinning, spotty, and wrinkled; visible veins and a high-pitched voice.
Progeria is caused by a gene (lamin A), which makes protein necessary for holding the center of a cell together. When this gene has a defect, it is believed the genetic mutation makes cells unstable, which appears to lead to progeria's aging. Progeria is considered a autosomal dominant condition, which means one gene is altered in each cell, which causes the disorder. The condition results in a new mutation, and almost always occurs in someone with no history of the disorder in there family
There is no cure for progeria, but monitoring for heart and blood vessel disease may help with managing the patients condition. Some therapies may ease or delay some of the signs and symptoms they are low-dose aspirin, medications, physical and occupational therapy, and extraction of primary teeth. Genetic counseling is an option.
To comfirm if you have Progeria the doctor will order a genetic test. Testing for LMNA mutations can confirm if you have progeria.
Living With Rapid-Aging Disease Progeria
Progeria normally happens to newborn babies. Progeria affects approximately 1 in 4 - 8 million newborns.
What I discovered
- I discovered that the average live expectancy for someone with Progeria is 13-20 years.
- I discovered that there is no cure.
- You have to test for LMNA mutations to confirm of you have the disorder.
- Mayo Clinic - http://www.mayoclinic.org/diseases-conditions/progeria/basics/definition/con-20029424
- Mayo Clinic - http://www.mayoclinic.org/diseases-conditions/progeria/basics/symptoms/con-20029424
- Mayo Clinic - http://www.mayoclinic.org/diseases-conditions/progeria/basics/causes/con-20029424
- Genetics Home Reference - http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome
- Mayo Clinic - http://www.mayoclinic.org/diseases-conditions/progeria/basics/treatment/con-20029424
- Mayo Clinic - http://www.mayoclinic.org/diseases-conditions/progeria/basics/tests-diagnosis/con-20029424
- Progeria researsh foundation - http://www.progeriaresearch.org/progeria_101.html