Page URL:

Gene complex implicated in severe premenstrual syndrome

9 January 2017
Appeared in BioNews 883

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.

As part of a study examining how women with and without premenstrual dysphoric disorder (PMDD) respond to treatment that blocks sex hormones, researchers based at the National Institutes of Health (NIH) and the University of North Carolina found that a reduction in symptoms was linked to a particular gene complex called ESC/E(Z).

'We found dysregulated expression in a suspect gene complex which adds to evidence that PMDD is a disorder of cellular response to oestrogen and progesterone,' explained Dr Peter Schmidt of the National Institute of Mental Health's Behavioral Endocrinology Branch and one of the principal investigators on the study.

'Learning more about the role of this gene complex holds hope for improved treatment of such prevalent reproductive endocrine-related mood disorders,' he said.

PMDD affects two to five percent of women of reproductive age and is characterised by an exaggeration of the symptoms associated with PMS, including feelings of hopelessness, depression and anxiety, as well as bloating, headaches and cramps. Previous research has shown that women who regularly experience such severe symptoms are abnormally sensitive to changes in sex hormones, oestrogen and progesterone, despite normal levels.

In the current study, the researchers showed that in ten women with PMDD, blocking sex hormones eliminated PMS symptoms, which then returned once treatment ended after six months. The team then examined white blood cells from the same women with PMDD to test whether differences in gene expression might underlie the changes in responsiveness to the sex hormones.  

They showed that gene expression in a gene complex that regulates epigenetic processes, called the ESC/E(Z), differed in cells from the women with PMDD compared to those without. More than half of the ESC/E(Z) genes were over-expressed, while protein expression of four key genes was decreased in PMDD cells. Additionally, progesterone boosted expression of several of these genes in women without PMDD, while oestrogen decreased expression in those with the disorder.

'This is a big moment for women's health, because it establishes that women with PMDD have an intrinsic difference in their molecular apparatus for response to sex hormones – not just emotional behaviors they should be able to voluntarily control,' said Dr David Goldman from NIH's National Institute on Alcohol Abuse and Alcoholism, who led the study.

The study, published in the journal Molecular Psychiatry, provides the first scientific evidence that women with and without PMDD differ at a cellular level – which also suggests that the condition might be inherited. However, NHS Choices reports that the researchers do stress that the biological relevance of these findings should be interpreted with caution for now as there are 'many important elements' in the nervous system that cannot be seen in the blood cells and that 'it would only be a matter of speculation' to suggest these findings could apply to PMS.

10 April 2017 - by Sarah Gregory 
Researchers have identified a gene variant that increases the risk of depression, while elsewhere the largest genetic study testing for risk factors gets underway...
7 November 2016 - by Dr James Heather 
Twelve locations in the human genome have been linked with differences in reproductive behaviour...
30 August 2011 - by Dr Charlotte Maden 
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...
29 November 2010 - by Chris Chatterton 
An international study has uncovered new genes linked to the early onset of puberty and increased likelihood of obesity. The researchers performed a meta-analysis of 32 genome-wide association studies (GWAS) involving over 100,000 women from Europe, the US and Australia....
1 May 2009 - by Heidi Colleran 
The first evidence for a genetic influence on the timing of female sexual maturation has been found by an international team of scientists, led by the Institute of Biomedical and Clinical Science in the Peninsula Medical School at Exeter (PMSE). The study, reported in the journal Nature...
18 November 2007 - by Dr Karen Devine 
The storage of stem cells as a 'biological insurance' for the future is once again hitting the headlines of the popular press. This week, American based company, Cryo-Cell, announced the launch of their new stem cell storage initiative - the opportunity for women to bank their menstrual blood...
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.