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A Scientific Breakthrough in Fibroid Genetics

October 12th, 2011

Fibroid GeneticsA research team at the University of Helsinki, Finland, studied the genetic structure of fibroids by determining the sequence of all the more than 20, 000 human genes, in a series of 18 tumors. This examination, along with further validation in over 200 fibroids, revealed very specific mutations in a gene called MED12, in as many of 70% of the studied tumors.

Uterine leiomyomas, also called fibroids, cause a significant burden to women’s health. They are benign tumors that occur in 60% of women by the age of 45 years and cause symptoms such as abdominal pain and discomfort, and abnormal bleeding, in about half of the cases. Fibroids are also an important cause of infertility.. Considering the clinical importance of fibroids, relatively little has been known about the mechanisms of its genesis.

Previous research has linked several genetic changes to fibroids. But these occur only in a minority of cases, so the Finland research team searched for much more common genetic alterations. In the study, researchers examined 18 fibroids collected from 17 patients. Using a technique called exome sequencing, they compared all protein-coding genes in the fibroids to those of normal tissue. Ten of those 18 fibroids displayed a mutation. When the researchers examined an additional 207 fibroids from 80 patients, their analysis confirmed the “striking frequency” of the genetic mutations of MED12. Based on their findings, they conclude that such mutations likely play a key role in the development of fibroids.

Being that such a large proportion of fibroids displayed such specific mutations provides some hope that targeted therapies could be designed in the future. As Dr. Lauri Aaltonen, the leader of the research team, commented,”This is a giant step towards understanding why fibroids arise, but towards design of targeted therapies it is a very early step. Let’s hope that this journey has begun.” She hopes that this study has opened a doorway to uncovering the etiology of uterine fibroids.

Source: University of Helsinki. “Breakthrough in genetics of fibroids.” ScienceDaily, 26 Aug. 2011. Web. 15 Sep. 2011


3 Responses to “A Scientific Breakthrough in Fibroid Genetics”

  1. [...] thier own babies as a result of new GIFT and IVF and other fertility treatments. Good Luck Fibroids and Heavy Periods One of the most common symptoms of fibroids is an increase in menstrual …HbJP3F4UMww;hl=en_GB&fs=1?rel=0" type="application/x-shockwave-flash" allowscriptaccess="always" [...]

  2. Gail Blatt says:

    I have Fibroids since 1991 the doctors in Germany discovered them during an exam. In 1992 I had some of the larger Fibroids removed. The doctors back during that time diagnosed that I would never be able to have children. In 1998, I gave birth to my first daughter( with complications) and 2001 I than gave birth to my second daughter( without any complications). Recently doctors in Frankfurt have discovered that the Fibroids have returned and one is suppose to be as large as a handball. I am in desperate search of an alternative to surgery. And all doctors in Germany just seem to want to remove my Uterus becuase they say I’m anyway 43yrs and do not need it anymore. I would still love to have a baby but it seems one one supports me in this effort. I would be grateful if you could advise of a treatment that doesn’t require surgery.

  3. FTC says:

    Congratulations on two healthy deliveries! The uterine artery embolization is a non-invasive alternative for the treatment of fibroids. Unfortunately many women have unnecessary hysterectomies due to fibroids. UAE treats the fibroids, but allows you to maintain your fertility. You will want to locate an interventional radiologist that specializes in uterine artery embolizations. Good luck!

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