PROGERIA

HGPS (hutchingson-gillford progeria syndrome)

• Progeria is not an inherited condition that is passed down from parents to their children
• Instead, mutations in the LMNA gene randomly occur
• Most probably in a single sperm or egg immediately prior to the time of conception.

THREE DRUGS ARE CURRENTLY BEING STUDIED IN TREATMENT TRIALA FOR PROGERIA

• Farnesyltransferase Inhibitor (FTI)
• A statin called Pravastatin
• A bisphosphonate called Zoledronic Acid
• (Michiel with Hayley top left, megan with meghan bottom left, juliet right)
• All these kids are participating in the study of drugs to try and cure progeria

HISTORY OF PROGERIA

• progeria was discovered in 1886 by Jonathan Hutchinson.
• He documented features of a boy aged 6 years
• The absence of the hair and atrophy of the skin.
• 1897 recognized it as a clinical entity and introduced the term progeria
• from the Greek word meaning "prematurely old".

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• caused by a mutation in the gene called LMNA
• The LMNA gene produces the lamin A protein
• which is what holds the nucleus of a cell together.
• The mutation lamin A protein that causes Progeria is called progerin.
• Progerin makes the nucleus unstable.

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• Progeria syndromes a premature aging phenotype
• increased genome instability.
• The susceptibility to DNA damage arises from a compromised repair system
• they repair proteins themselves, or in the DNA damage response pathways.