A team of researchers has identified the genetic mutation that causes Proteus syndrome, a rare disorder in which tissue and bone grows massively out of proportion. Only 300 people worldwide are believed to be affected by this very rare condition. The report appears in the July 27, 2011, early online edition of the New England Journal of Medicine.
It has long been speculated that the Elephant Man had Proteus Syndrome. It has been speculated too that in addition to Proteus Syndrome he may also have had NF1 gene mutations, but this has never been demonstrated conclusively. It is known that his clinical appearance would match a severe form of Proteus Syndorme.
The new discovery has broad implications for potential drug therapies and will also potentially inform neurofibromatosis research as well as cancer. The team was led by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.
The mutated gene associated with Proteus Syndrome is AKT1, and is an oncogene i.e. it can promote the uncontrolled cell growth associated with cancer and as seen in Proteus Syndrome. Interestingly AKT1 has also been under consideration as a drug target for neurofibromatosis since it is on the same cellular signaling cascade.
