Women are frequently afflicted with Uterine leiomyomas, also called fibroids. They are a type of benign tumors that manifest at the age of around 45 and prevail in nearly 60% women. They are a primary cause of infertility as well as hysterectomy, and are responsible for symptoms such as abnormal bleeding, abdominal pain, and discomfort, in around 50% of the cases.
In view of the medical significance of fibroids, not much data is available on the mechanism of tumorigenesis.
The University Of Helsinki research team used a series of 18 tumors to study the DNA sequence of more than 20,000 human genes in an endeavor to learn the genetic making of fibroids. This was further validated by a study of over 200 fibroids that revealed very precise MED12 gene mutations in nearly 70% of the studied tumors.
The MED12 protein synthesized by the MED12 gene is responsible for regulating general gene transcription. The article to be published in the forthcoming issue of the scientific journal Science reveals that the observed mutation pattern implies that majority of fibroids display a very specific disruption in the MED12 function.
The findings suggest that there is hope for developing targeted therapies because significant proportions of fibroids display such specific mutations. Study lead professor Lauri Aaltonen, comments, “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.”