Scientists discover genetic key to Elephant Man's disfigurement

(BBC)

A century after the death of the Elephant Man, whose hideous disfigurement turned him into a medical curiosity, scientists believe they may have solved the puzzle of what caused his condition.

American researchers have identified a genetic mutation that causes Proteus syndrome, a rare disorder in which tissue and bone grow massively out of proportion. About 500 people are known to to be living with the condition, which stems from a spontaneous mutation in the embryo during pregnancy. Sufferers endure gross deformity, typically to their head, hands and feet, and become excluded from society and lead isolated lives as a result.

Scientists from the National Institutes of Health in Washington who made the discovery say they hope it will lead to the development of treatments for the condition. It could also yield agents effective against cancer, which is caused by the overgrowth of cells in different regions of the body.

Now they plan to test DNA from the skeleton of Joseph Merrick, who briefly gained celebrity and earned his living by being displayed across England and Europe, to establish whether Proteus syndrome was the cause of his deformity. His story gained wide public attention in 1980 through the play and film The Elephant Man. Mr Merrick's abnormalities appeared early in childhood in the form of thick and lumpy skin, enlarged lips and a bony protuberance on his forehead. One of his arms and both feet became enlarged and by adulthood he had to sleep sitting up because of the size and weight of his head.

He was befriended by Sir Frederick Treves, a surgeon at the London Hospital, where he stayed for the last years of his life, dying there in 1890 at the age of 27. The official cause of death was asphyxia but Sir Frederick believed he died of a dislocated neck.

Mr Merrick's skeleton is preserved in the hospital's pathology collection and tissue from it will be used by the US researchers to test his century-old DNA. However, the task facing the scientists is tricky because the gene mutation responsible for Proteus syndrome is not distributed evenly throughout the body. In taking a small sample, the scientists may miss cells carrying the gene.

Eric Green, director of the National Human Genome Research Institute, part of the NIH, who led the study published in The New England Journal of Medicine, said: "This rare disorder has been the focus of curiosity and medical observation for decades, but, until now, has never been medically explained. With the analysis reported here, patients and families who face this condition have hope for future therapies."