Page URL:

Common cause of hysterectomy linked to genetic mutation

30 August 2011
Appeared in BioNews 622

Researchers in Finland have discovered a genetic mutation potentially involved in the formation of uterine fibroids. Fibroids are the most common reason for hysterectomy, and 60 percent of women develop them before the age of 45.

Fibroids, or uterine leiomyomas, are benign tumours of the uterus that can cause symptoms such as pelvic pain, heavy menstrual bleeding and frequent urination, and can even lead to infertility. Despite their clinical importance, very little is known about the mechanism of fibroid formation. Previous work had implicated several genetic mutations, but only in a minority of cases.

In a process known as exome sequencing scientists from the University of Helsinki compared all the protein-coding genes in 18 fibroids from 17 patients with those in normal tissues. They identified a genetic mutation in the MED12 gene in ten fibroids. The protein product is involved in gene regulation, and after analysis of a further 207 fibroids the researchers determined that 70 percent of the tumours contained this mutation.

As such a large proportion of the fibroids had the mutation the findings are hoped to aid in the development of treatments in the future.

Dr Elizabeth Stewart, who researches fibroids at the Mayo Clinic in Minnesota, USA, and was not involved in this study, said: 'If we can understand what the critical steps are in creating the fibroids, that may open up novel treatment mechanisms'.

Lead researcher Dr Lauri Aaltonen has suggested that the mutation may cause changes in the way genes are expressed in the smooth muscle of the uterus. However, the team acknowledges that further work is required to determine exactly how it drives tumour formation and how it can be used in clinical practice.

Dr Aaltonen said: 'This is a giant step towards understanding why fibroids arise, but towards design of targeted therapies it is an early step. Let's hope the journey has begun'.

Dr Stewart also warned that since the samples in the study were from one hospital in Helsinki a wider demographic of women should also be investigated, especially as women of African descent are more likely to get uterine fibroids.

Breakthrough in genetics of fibroids
Eurekalert |  25 August 2011
Gene Mutation Found in Uterine Fibroids
Web MD |  25 August 2011
Gene Mutation Linked to Common Cause of Hysterectomies
Health News Dailsy |  25 August 2011
MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas
Science |  25 August 2011
9 January 2017 - by Sarah Gregory 
Researchers in the USA have shown that a severe form of premenstrual syndrome (PMS) may be caused by irregular gene expression, which leads to atypical responses to sex hormones...
1 August 2011 - by Dr Morven Shearer 
Last month news broke of an experimental womb transplantation surgery planned for early next year. With it came the possibility of women with an absent or non-functioning uterus carrying a child to term (see Roberts, 2011)....
20 June 2011 - by MacKenna Roberts 
A British woman has agreed to donate her womb to her daughter if selected for an experimental womb transplant surgery to be performed by doctors at the University of Gothenburg in Sweden....
16 June 2008 - by Katy Sinclair 
A doctor about to perform a partial hysterectomy on a patient has inadvertently caught the moment of ovulation on camera. The pictures have been published in the New Scientist magazine, and will also be reproduced in Fertility and Sterility. Observing ovulation in humans is very difficult, and...
22 January 2007 - by Antony Starza-Allen 
Doctors based at the New York Downtown Hospital, have been given the go-ahead to begin screening women to undergo the first womb transplant in the US. The procedure will involve the removal and transferral of a uterus from a dead donor to a female recipient. After waiting...
25 January 2000 - by BioNews 
A ruling in the High Court has not allowed Patricia Briody to receive damages to pay for a surrogate child. Patricia Briody was left infertile by the clinical negligence of a St Helens and Knowsley Health Authority hospital 26 years ago, when two pregnancies ended in stillborn children and an...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.