Researchers have discovered the gene mutation that leads to Proteus syndrome, a condition that causes different parts of the body to grow faster and larger than others, HealthDay reports.

With only about 500 cases known in the developed world, Proteus syndrome is rare. The condition is marked by a partial enlargement of the hands or feet, an enlarged head and overgrowth of one side of the face, body or limbs. It is thought to be the cause of the disabilities of 19th century Englishman Joseph Merrick, popularly known as the “Elephant Man.”

According to HealthDay, Proteus syndrome is a mosaic disorder, one in which some cells in the body have the genetic mutation and some don’t. Working on identifying the specific gene variant since 1996, researchers at the U.S. National Human Genome Research Institute were finally able to compare tissue samples from affected areas of the body to unaffected areas in 29 Proteus syndrome patients. They were able to identify the same mutation in 26 patients.

The mutation occurred in the AKT1 gene, they said. HealthDay explains the mutation as “a single ‘misspelling’ in the billions of letters that make up the human genome.”

HealthDay noted that the gene mutation in Proteus syndrome creates an oncogene, which drives the uncontrolled cell division. Oncogenes are usually associated with cancer, the website reported.

Researchers hope that finding the gene will be able to lead to better treatment for people with Proteus syndrome.

“It may become possible to treat those with Proteus syndrome with a drug originally developed for cancer,” said the study’s senior author Leslie Biesecker. “This allows us to leapfrog a number of steps. But, Proteus syndrome is not an overgrowth syndrome so we would have to adapt cancer treatments.”

Source: http://www.thirdage.com/news/proteus-syndrom-gene-variant-identified_07-28-2011