Finnish researchers lay groundwork for targeted therapy of fibroids
Helsinki – Finnish researchers are likely to have identified the mutation that drives tumorigenesis in millions of women suffering from uterine leiomyomas (fibroids). The benign tumours, which are the most common medical reason for hysterectomy, cause abdominal pain and discomfort or abnormal bleeding in 25-50% of affected women. In Science, the researchers under Dr. Lauri Aaltonen from the University of Helsinki report, they identified a mutation in exon 2 of the mediator complex subunit 12 (Med12), a transcriptional regulator that bridges DNA regulatory sequences to the RNA polymerase II complex, in 70% of more than 200 fibroids analysed by exome sequencing. Until now, the cause of fibroids was unclear with around 145 mutations linked to the disorder. But now it seems, the researchers have identified a major driver of disease.
"The findings are a giant step towards understanding why fibroids arise,“ said professor Aaltonen, „but towards design of targeted therapies it is a very early step. Let's hope that this journey has begun."