Gene discovery paves the way for development of a treatment for uterine muscle fibroids

Researchers at the University of Helsinki have made a significant breakthrough in the genetic research of uterine muscle fibroids or leiomyomas.

Researchers at the University of Helsinki make a significant breakthrough in the genetic research of uterine muscle fibroids or leiomyomas.

In a study published in Science magazine, the research group led by Academy Professor Lauri Aaltonen demonstrated that the MED12 gene is altered in up to 70 per cent of uterine leiomyomas.

Leiomyomas are benign smooth muscle tumours in the uterus, which affect up to 60 per cent of women by the age of 45. Regardless of their benignity, the leiomyomas often cause difficult symptoms, such as exceptionally heavy menstrual flow and anaemia as well as abdominal pain and on occasion infertility. Leiomyomas are also the single most prevalent cause of hysterectomies.

Even though leiomyomas are very common, the factors behind their development have remained fairly unclear.

The key young researchers in the project are doctoral students Netta Mäkinen and Miika Mehine. They sequenced over 20,000 human genes from 18 tumours. The results were then controlled with new material comprising 200 leiomyomas.

– This study is an example of how new technology has revolutionised genetic research. We now have the opportunity to quickly and efficiently sequence the whole exome – all the genes coding proteins – making it possible to identify the gene linked to the disease even from a small sample, says Aaltonen.

There were mutations in the MED12 gene concentrated to a very small area in approximately 70 per cent of the leiomyomas studied. It is known that the protein produced by this gene partakes in the regulation of general gene expression.

– Finding this specific mutation area in most leiomyomas gives us an exceptionally good starting point to develop targeted medical treatments to curb the growth of these tumours. Indeed, it would be very valuable if at least some of the patients could get relief for their symptoms this way and if the need for hysterectomies decreased, says Aaltonen, but he cautions against undue expectations:

– Even though the discovery is a giant step in discovering the birth mechanism of leiomyomas and a step towards developing medical treatments to curb their growth, it is only the first step. Let's hope that the journey towards precision treatments has now begun.

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Text: Päivi Lehtinen
Photo: Linda Tammisto
Translation: AAC Global
University of Helsinki, digital communications

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