Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic condition that is characterized by premature aging in children. Its name is derived from the Greek and means “prematurely old.” There are different forms of Progeria, but we will be looking at the classic form that was named after the doctors who first discovered it, Dr. Jonathon Hutchinson in 1886 and Dr. Hastings Gilford in 1897.
Progeria is a very rare disease and affects about one in 4-8 million children, with an estimated 200-250 cases worldwide. It affects males and females equally and is found in all races. HGPS is not usually passed down in families; it’s extremely rare and almost always happens by …show more content…
It was discovered that damaged or shorter telomeres cause production of progerin. Without telomeres, the chromosomes would gradually lose their crucial information and be cut after every cell division. When a normal cell divides, the telomeres become shorter. This research showed that short or dysfunctional telomeres activate the production of progerin, which is associated with increased premature aging in cells, causing more damage. As the telomeres shorten, the cell produces more toxic progerin. Results of this study suggested a synergistic (when 2 things work together and their total effect is greater than the sum of the 2) relationship between telomere dysfunction and increased progerin production.
Studies have shown that the mutation that causes progeria activates the splicing of Lamin A, which produces the toxic progerin protein, leading to all the features associated with premature aging that these children suffer from.
A drug needed to be developed that could be used in children with Progeria, but this usually takes decades of research. The progeria gene was only brought to light in 2003, but fortunately there is a drug called Farnesyltransferase inhibitor (FTI) that was originally used as a treatment for malignant brain tumors in Pediatric Medicine. FTIs marketing name is Lonafarnib and it was selected for use because of its