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:

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

Category: Genetics Mnemonics

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