We know that scientists have now identified the gene responsible for Proteus Sydrome, which is a fabulous breakthrough. Are they now saying then, beyond any doubt, that Joseph had Proteus? From all accounts I've read, Joseph's level of deformity is still unparalleled among present day Proteus patients, (that's common knowledge), so, I'm wondering, has the Proteus vs Neurofibromatosis mystery now been laid to rest?
Gene ID'd and Joseph's condition understood? Now that would be a breakthrough!
Dr. Biesecker, the geneticist leading the National Human Genome Project who discovered the PTK1 gene that causes Proteus, tells me that their DNA testing on Joseph has revealed no results so far.
ReplyDeleteI guess the mystery remains for now. I think time's running out, as the bones are very fragile.
Didn't they think he might have had both NF and Proteus at once?
ReplyDeleteOops, I meant to say the AKT1 gene. Trying to show off, I guess!
ReplyDeleteIn 2003, they did. Dr. Charis Eng gave this interview for the "Discovery Health" special on Joseph, "The Plight of the Elephant Man"
ReplyDeleteHowever, this is before the latest discovery about the cause of Proteus (meant to say AKT1 gene above, not PKT1) so they're still not 100% sure if Joseph had Proteus.
Testing the Elephant Man's DNA: An Interview With Dr. Charis Eng
By Elise Ritter
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:
Q: Where did you get the idea that Proteus syndrome, one of the diseases Joseph Merrick was afflicted with, could be caused by a mutated PTEN gene?
A: 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).
Q: How does the PTEN gene — a tumor suppressor — work?
A: 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.
Q: What does PTEN stand for?
A: Phosphatase and tensin homolog on chromosome 10 (10q23.3).
Q: What are the primary goals of your scientific research?
A: 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.
I agree with Audrey. I strongly believe Joseph was unfortunate in having both PS and NF. Although I dont like dwelling on his condition itself,I mean, I just wish it could be solved finally and put to rest, I just get the feeling by looking at him so much.I see the PS,in the similarities he shares with , for eg, Brian, esp his feet...the way his head and neck are fixed, the bone distortion of limbs and his skull...And then I look at his face, and I see NF,esp as it's affected mostly on one side, and in those parts of his skin which hang in folds.Im not an expert, Im just looking and thinking to myself, that's all.
ReplyDeleteOr else, Joseph's condition is absolutely unique.
I read a study that dates back to the late 90's that posed the dual diagnosis as a distinct possibility. Records establish that Merrick had surgery on the tissue protrusion from his mouth some time in the late 1880's. The operative report states that there was little to no gross haemorrhage during this procedure and that the tissue removed was consistent with nerve tissue - likely to be one of his cranial nerves. The suggestion here is that that the likelihood of an NF comorbidity was very strong.
ReplyDeleteI'd put money on the dual diagnosis.