Hutchinson-Gilford Progeria Syndrome (HGPS)
Here are some testable points about Progeria!
Hutchinson-Gilford Progeria Syndrome (HGPS)
“pro” "geras" the Greek words for “before” “old age”
- Very rare fatal genetic disease
- Characterized by premature aging
- Autosomal dominant point mutation in in the LMNA gene
- Point mutation which produces an abnormal truncated version of lamin A protein called progerin.
- Dominant Negative effect of mutant Lamin A protein (progerin) appears to destabilize the cell's nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the skin, cardiovascular, and musculoskeletal systems.
Caused by a single C => T substitution in the LMNA gene!
Genetic defect in Lamin A, a nuclear protein, leads to nuclear abnomalities seen below:
Click here for an excellent Video Explaining the Mechanism of Progeria!
Here are some videos of a patient living with this disorder:
Here's some key facts and a good video about happiness from a 17 year old adolescent with progeria:
Compare to: Adult Progeria (Werner's Syndrome)
Progeria vs Werner Syndrome CheatSheet
Video Source: TedxMidAtlantic 2013
Photo Source: Scaffidi P, Gordon L, Misteli T (2005) The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises. PLoS Biol 3(11): e395. doi:10.1371/journal.pbio.0030395