Progeria

Earlier in the class I did a post on Piazza on progeria, which in summary is the advanced aging of children.  Most children only live to be 12-16 years old before they pass away from heart problems that normally elderly people deal with.  Progeria is developed by the, “PRF-funded researchers identified FTIs as a potential drug treatment. The Progeria-causing mutation leads to the production of the protein progerin, which damages cell function. Part of progerin’s toxic effect on the body is caused by a molecule called a “farnesyl group,” which attaches to the progerin protein and helps it damage the body’s cells. FTIs act by blocking the attachment of the farnesyl group onto progerin, reducing the harm progerin causes.”(progeriaresearch.org). I want to look into some new research that has come available for treating progeria.  This article was posted in May of 2014 and it uses "Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, has proven effective for Progeria" (progeriaresearch.org).  The scientists looked into how this drug affected the bone structure, hearing, weight, and blood vessel flexibility of blood vessels.  Each area showed improvement, but the most promising development was the increase in flexibility of blood vessels since that is the common cause of death for kids with progeria.  Though it was pointed out they do not know if this new discovery will delay the development of heart issues that come with the accelerated aging.  There was a 13abc news story a few weeks ago about the girl from Toledo who has progeria I mentioned in my Piazza post and she is receiving a new trial treatment.  I do not know if she is receiving the lonafarnib or not since they did not go into what the treatment specifically was.  Progeria also took national headlines within the last few years as 13abc out of Toledo has been doing great work with the girl in their area Barbara Walters did a special on several kids with progeria including the girl from Toledo.  This leads into the shear speed that progeria research has developed trials for these kids to try.

Children receiving their first treatment of new research medicine

The gene that causes progeria was found in 2003 only 11 years from our current year.  In 11 years they have had many promising trials that have yielded results in treatment of progeria with lonafarnib being the latest discovery.  The research developed in the search for a cure pf progeria has actually led a connection into the normal human aging process.  The progerin protein is produced more and more as we age and the development of the lonafarnib research could extend normal human life along with children with progeria.  If the research of the blood vessel flexibility improving continues we could see this maybe be a step in the right direction for the elderly and progeria patients.  Though this disease is very rare with only 200-250 children having progeria across the world the research associated could not only improve the life of children with progeria, but also make a cross into the normal aging process.  

This is part of the Barbara Walters interview of kids with progeria that was done within the last few years. 

http://www.progeriaresearch.org/first-ever-progeria-treatment.html