Patterns of Understanding the Genetics of Endometriosis

Patterns of Understanding the Genetics of Endometriosis
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Mark Perloe, MD: “I’m Mark Perloe and I am here at the American Society of Reproductive Medicine meeting in Seattle, Washington reporting for Endometriosis Zone. And I’m here with Dr. Tzeng who is the Chairman of the Department of OBGYN at the Taipei Medical University and he has a prize poster, or a poster that is a candidate for a prize, that is looking at new methods of evaluating and understanding the genetics of endometriosis. Now, in the past researchers have hoped to gather families and candidates with endometriosis and those without in its search for suspect genes. We have some new tools that allow our search to be a bit more effective. Can you talk about that a bit?”

Chii-RueyTzeng, MD: “Yes, in these studies we use microarray and the GnRH analogues to identify genes related to the patient with endometriosis. In fact we identified more than one thousand genes but only 17 genes highly expressed in the eutopic endometrium in the patients without endometriosis and 197 genes in patients with endometriosis.”

Mark Perloe, MD: “So what you are doing with this technology is processing the tissue, getting the messenger RNA out, reverse transcribing, looking at the clone DNA to see what genes are expressed in the tissue? Is that correct?”

Chii-RueyTzeng, MD: “Right, in fact, established in 1998, in the last 3 years, we found that some genes, especially MMP14, are highly expressed in ectopic endometrium. If one patient is treated with GnRH analogues for a couple of months, some genes will disappear, and some good genes again re-appear in the tissue of the endometriosis.”

Mark Perloe, MD: “When you are talking about the expression of genes in tissue, and really differential expression, it comes down to looking at what are your control tissues? So are you looking at eutopic endometrium in patients with endometriosis and without and are you also looking at the lesions themselves?”

Chii-RueyTzeng, MD: “Yes, we look at both eutopic and ectopic endometrium in the patients with endometriosis and we also confirm by immuno-histochemistry. We only show those genes highly expressed, that means three times higher compared with the controls, and these genes are very interesting. For example when we treat with GnRH analogues, the MMP14 totally disappears from the ectopic lesions of endometriosis. In contrast TIMP 2 is highly expressed when the patient is treated with GnRH analogues and I think this is very interesting. Our goal and objective is in the future we can draw the blood from the patient and use this as a diagnostic marker to predict whether the patient is free of endometriosis or whether there are some lesions inside her tummy.”

Mark Perloe, MD: “Ultimately this will also allow us to look at patterns because the idea of whether endometriosis is one disease or many diseases or actually a physiological phenomena, I think this research will help us pick that out. Do you think that the information gained will allow us to target more specifically the therapies that we have available?”

Chii-RueyTzeng, MD: “I think you are right. This disease is multi factorial not just one factor, but we can focus on one most important gene, which I mentioned earlier. We have a total of 17 genes so we can identify the most important genes, put all these genes together and then if all these normal genes appear in the microarray, you can use the freedom of identification and I think this is a useful diagnostic tool in the future.”

Mark Perloe, MD: “The changes that you find in this particular site may be affected by the presence of endometriosis elsewhere. One of the concerns we clinicians often have is a patient who comes in and is concerned because a mother, or a sister has had endometriosis and has had early problems with an early hysterectomy. Do you see a time when we may have tools to identify markers that will identify not just the presence of endometriosis but the potential for developing endometriosis and having that disease progress? That may be too far ahead?”

Chii-RueyTzeng, MD: “This is not so easy but I think this microarray can only be used as a follow up. When a patient already has confirmed endometriosis and has been treated with some medication or by surgery it can be used as a follow up tool. It is not easy for immediate diagnosis, I think the laparoscopic diagnosis is still the most important one, but you can use this as a follow up tool.”

Mark Perloe, MD: “You mentioned earlier in a discussion we have had that there may be some new technology where we will be able to look at protein patterns. Can you just briefly mention what the future holds in that regard?”

Chii-RueyTzeng, MD: “I think the proteinomics is the final goal. Because we have had to look at end product, not just messenger RNA. This is an intermediate product but I think this goal is not very far from now.”

Mark Perloe, MD: “Thank you very much for sharing your research with us. I appreciate your time.”

See also Genetic Epidemiology of Endometriosis


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