It would take more than the “Mystery Van” and a lovable dog sidekick for one Ohio State researcher to solve a 112-year-old mystery.

Dr. Charis Eng, Director of the Division of Human Genetics, was sought out by Dr. Paul Trotman, a producer for New Zealand Natural History TV, to help him with a documentary. Trotman wanted Eng to test his theory about what caused the strange deformities of Joseph Merrick.

Merrick, commonly referred to as “the elephant man,” was once believed to have suffered from elephantiasis. That diagnosis changed in later years to neurofibramatosis, a very common neurological disorder that causes an enlarged head, optic nerve tumors, spots of discoloration, as well as bumps and nerve tumors.

“These tumors can be very significant, even life threatening, and grow anywhere in the body,” said Kevin Sweet, genetic counselor at the James Cancer Center. “These tumors form on nerves throughout the body, thus the name neurofibromatosis, and can affect the development of bones and skin, resulting in disfigurement.”

New research reveals that Merrick might have actually suffered from a rare affliction known as Proteus Syndrome. Proteus Syndrome was first discovered in 1979 and named after the Greek god Proteus, who was a shape-changer. Only 100 to 200 people worldwide have ever suffered from Proteus Syndrome.

Signs of Proteus Syndrome include tumor growth, atypical bone growth, an extremely enlarged head, oversized organs, raised, rough skin and an overgrowth of skin and soft tissue, which develop into flaps and folds on the body.

Merrick had all of these symptoms. In fact, he had the worst case of any of these symptoms ever discovered. His head became so large that he was unable to sleep lying down. The only time he tried to caused his death. By lying down, the weight of his head crushed his windpipe, and Merrick died at the age of 27.

It is the uncertainty of Merrick’s true condition that Trotman hoped to clear up in his documentary.

Trotman’s theory proposes that Merrick suffered from both neurofibramatosis and Proteus Syndrome, giving him the unique deformities that slowly killed him.

The research for the documentary took place in three different locations: the University of Oslo in Norway, the Kolling Institute of Medical Research in Australia and OSU, where the DNA was analyzed to discover if Merrick suffered from Proteus Syndrome.

Eng was selected because of her expertise with PTEN, a gene that suppresses overgrowth in cells. PTEN acts like a brake by controlling how fast a cell replicates. If there is a mutation in the PTEN gene, cells will divide uncontrollably and lead to the growth of tumors and cancer.

“Two years ago, my lab discovered that PTEN mutation causes 20 percent of Proteus Syndrome cases,” Eng said. “It was because of this research that Trotman contacted me.”

Trotman wanted Eng to test Merrick’s DNA to see if she could determine if he suffered from a germline mutation of the PTEN gene.

“Germline describes mutations that occur in every type of cell in the body and can be passed along to children,” Eng said. “There is a 50/50 chance that a person with a germline mutation will pass it on to their offspring.”

The task set before Eng and her team of scientists was daunting. First DNA had to be obtained from sources that were more than 100 years old.

“Merricks body was boiled in acid and hung to dry to preserve the skeleton, so we had to try to extract the DNA from a few hairs that had been handled by many people and what we could get from the skeleton,” Eng said.

Up until this study the oldest DNA Eng had worked with was 50 years old.

After six weeks of testing Eng and her staff discovered that Merrick did not have a mutation of the PTEN gene.

“Eighty percent of people who have Proteus Syndrome don’t have the germline mutation,” Eng said.

Eng’s discovery still does not disprove whether Merrick suffered from Proteus Syndrome. In fact, all of the scientists involved still believe that he did have it; there just is not any solid medical proof yet.

The next step in the study would be to test Merrick’s DNA to see if he had neurofibromatosis.

“Because the DNA is so degraded, we’re not sure where to start looking,” Eng said. “Plus the gene for neurofibromatosis is extremely large, over 60 exons. It would have been impossible for us to analyze.”

So the mystery remains unsolved. Even the miracles of modern science cannot explain the deformities of the “elephant man.”