Researchers at the National Human Genome Research Institute (NHGRI) have identified the single point mutation in a cell growth regulator gene called AKT1 that causes Proteus syndrome. This rare disorder causes tissue and bone to grow to massive proportions, and patients are at an increased risk for developing certain cancers. The mutation occurs spontaneously during embryonic development, and the timing of its occurrence determines which tissues of the body are affected. The affected parts of the body grow abnormally and can reach enormous sizes. Experts believe that the 19th century Londoner, Joseph Merrick (named the Elephant Man), may have suffered from this disease.
With the mutation identified, we are now able to diagnose patients accurately – until now diagnosis has been based on the observation of physical features. And researchers now have a better chance of developing a treatment to inactivate the AKT1 protein – with early treatment it may be possible to halt disease progression and provide a more normal life for these patients.