For years, doctors and scientists have tried to find an accurate diagnosis for the Elephant Man's (Joseph Merrick) illness. Without the assistance of modern
DNA testing tools, it has been hard to discover what caused Joseph Merrick's deformities that would later cause people to refer to him as the Elephant Man.
In the late 1970s doctors began to theorize that a disease known as Proteus syndrome could be the cause of the Elephant Man's condition. Proteus syndrome is a rare condition caused by a mutated gene called PTEN.
So researchers in England enlisted the help of Dr. Charis Eng, Director of the Division of Human Genetics at Ohio State University. She is one of the world's leading experts on PTEN. Dr. Eng tested Merrick's DNA in search of a link. We sat down with her to find out more about it:
As a clinician as well as scientist, I noted that the unusual tissue growth of Proteus syndrome was slightly reminiscent of other disorders caused by germline (in every cell of the body) PTEN mutation that we were studying, such as Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome (BBRS).
PTEN acts like a brake to stop the overgrowth of a cell. When PTEN itself is not working (through damage or mutation), a cell can go haywire and multiply at a random rate. Thus, damaged or mutated PTEN leads to a number of different types of cancers.
We use DNA to identify and understand genes that are involved in cancer and cancer-related diseases. We do studies that focus on the role of the PTEN gene in causing or activating cancers and other diseases. Our work will lead to further understanding of the machinery of how cells function in health and disease. This knowledge has already led to further diagnostic tests. Understanding the machinery of the cell will also help us develop new preventative and therapeutic agents.
Yes, it can. Remember, when an individual inherits an altered cancer-predisposing gene, it does not mean they are 100 percent doomed to developing that cancer. This is the concept of penetrance.
