Werner Syndrome

Isabella T. & Elizabeth Q.

What is Werner Syndrome?

Werner syndrome, also called progeria, is a hereditary condition associated with premature aging and an increased risk of cancer and other diseases.

How Can You Get Werner Syndrome and What are the Symptoms?

Werner Syndrome is autosomal recessive, meaning that the copies of the WRN gene in each cell are mutated. The disease is also a result of a lack of the protein "RecQ helicase WRN"(Moskowitz, 2005.) Some symptoms are slow growth rate through childhood along with a thin appearance, premature loss of hair, growth stops around age 13, poorly developed private areas, women can become infertile and severe muscle and fat loss.

Current Direction of Research

No further research has been accomplished since 2005, other than a study that was done in Quebec, Canada that involved Vitamin C. A doctor there believed that Vitamin helped to slow down aging and aid in the prevention of premature aging (Werner Disease). This experiment has not been concluded or tested on human subjects yet so we do not know if it really works or not.

So what Cell Signaling Pathway is Messed Up?

The pathway involved with Werner Syndrome is a protein pathway that interacts with telomeres, although researchers still do not understand what occurs in the pathway to cause this disease. What we do know is that the correct(mechanism) way for the body's signalling pathways to function is by not letting cells re-enter the cell cycle. In this case "grown" or "aged" cells are unable to replicate and produce mutated DNA, which is the main cause of Werner Syndrome. The incorrect method, or the genetic problems, occur within the genes RecQ2, RecQ3 and RecQ4.
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Stages of a Signal Transduction Pathway