Progeria
“Highlights of the 2007
Progeria Research Foundation Scientific Workshop:
Progress in Translational Science”
Imagine having one of the rarest genetic diseases in the world: Progeria. Also known as Hutchinson-Gilford Progeria, this disease classifies only 50 patients worldwide. In 2007, the Children’s Hospital Boston aimed at enhancing the life for children with Progeria. The Progeria Research Foundation (PRF) and many other agencies aided the hospital with this goal of finding treatments and cures to increase the life duration of Progeria victims. Measures and observations taken in this experiment were noted on the various symptoms such as alopecia (baldness), short height, subcutaneous fat (fat under the skin), bone integrity, limb and dental abnormalities, and cardiovascular problems. The PRF discovered that the cause of Progeria was supported by a gene defect (possibly autosomal dominant) caused by a C T mutation on a nucleotide of the LMNA gene of lamin. This mutation produces a molecule called progerin. The research in this experiment presents the effects of progerin and lamins on the functioning of cells, humans, and the correlation between Progeria and aging. With this knowledge, the Children’s Hospital at Boston began a clinical trial with Farnesyltransferase inhibitors (FTIs) that attempted to treat Progeria because they could undo nuclear blebbing in cells with progerin. Since children with Progeria is a very small group, some observations of changes had to be based solely on what the child evaluates on their own with comparison of pretreatment and post treatment. Several of the treatment measures relied on changes of weight gain after the FTI while others focused on the other features of the disease, such as cardiovascular disease. Weight gain was the most accurate source of determining changes, seeing that some of the participants in the experiment have already experienced myocardial strokes. Therefore, cardiovascular improvement would
Progeria Research Foundation Scientific Workshop:
Progress in Translational Science”
Imagine having one of the rarest genetic diseases in the world: Progeria. Also known as Hutchinson-Gilford Progeria, this disease classifies only 50 patients worldwide. In 2007, the Children’s Hospital Boston aimed at enhancing the life for children with Progeria. The Progeria Research Foundation (PRF) and many other agencies aided the hospital with this goal of finding treatments and cures to increase the life duration of Progeria victims. Measures and observations taken in this experiment were noted on the various symptoms such as alopecia (baldness), short height, subcutaneous fat (fat under the skin), bone integrity, limb and dental abnormalities, and cardiovascular problems. The PRF discovered that the cause of Progeria was supported by a gene defect (possibly autosomal dominant) caused by a C T mutation on a nucleotide of the LMNA gene of lamin. This mutation produces a molecule called progerin. The research in this experiment presents the effects of progerin and lamins on the functioning of cells, humans, and the correlation between Progeria and aging. With this knowledge, the Children’s Hospital at Boston began a clinical trial with Farnesyltransferase inhibitors (FTIs) that attempted to treat Progeria because they could undo nuclear blebbing in cells with progerin. Since children with Progeria is a very small group, some observations of changes had to be based solely on what the child evaluates on their own with comparison of pretreatment and post treatment. Several of the treatment measures relied on changes of weight gain after the FTI while others focused on the other features of the disease, such as cardiovascular disease. Weight gain was the most accurate source of determining changes, seeing that some of the participants in the experiment have already experienced myocardial strokes. Therefore, cardiovascular improvement would