First significant genetic finding in severe PMS, or PMDD

October 2, 2007

The first significant genetic finding in premenstrual dysphoric disorder (PMDD) has now been reported. PMDD is a very severe form of the more commonly known premenstrual syndrome, or PMS. PMDD is heritable, affects 5-8% of women, and is associated with severe emotional and physical problems, such as irritability, marked depressed mood, anger, headaches, weight gain and more, to such an extent that quality of life is seriously impacted.

Previously, researchers have shown that women with PMDD have an abnormal response to normal hormone levels and, thus, are differentially sensitive to their own hormone changes. Huo and colleagues now report their new findings, which link PMDD with common variants in the estrogen receptor alpha gene, in an article scheduled for publication in the October 15th issue of Biological Psychiatry.

Huo and colleagues performed genetic testing and analyses on women diagnosed with PMDD and healthy control subjects to investigate possible sources of the genetic susceptibility to experience PMDD, and found variants in the estrogen receptor alpha gene that are associated with PMDD. In other words, women with these particular genetic variants were more likely to suffer from PMDD.

Importantly, the authors also discovered that this association is seen only in women with a variant form of another gene, catechol – o – methyltransferase (COMT), which is involved in regulating the function of the prefrontal cortex, a critical regulator of mood. David Rubinow, M.D., lead author on this project, notes that these findings “may help fill in the picture of how changes in ovarian hormones can lead to depression and why they do so only in a small subset of women.”

John H. Krystal, M.D., Editor of Biological Psychiatry and affiliated with both Yale University School of Medicine and the VA Connecticut Healthcare System, comments, “We have been waiting for molecular genetics to provide some insights into the neurobiology of PMDD and this report from Huo et al. provides a welcome starting point for this research area.” He adds, “In the case of PMDD, we are interested in the internal, hormonal environment as well as external environmental factors, such as stress. This report suggests that genetic factors may influence both dimensions of PMDD vulnerability.”

Although this is a preliminary report and further research, including replication of this finding, is needed, it represents an important advance in the genetic understanding of PMDD. As Dr. Rubinow explains, “The more that we can learn about how cyclical depressions get triggered in women with PMDD and why, the better will be our understanding of non hormone-related depression as well as the normal regulation of mood.”

Source: Elsevier

Explore further: Pre-menstrual dysphoric disorder helps elucidate role of female sex hormones on mood

Related Stories

Pre-menstrual dysphoric disorder helps elucidate role of female sex hormones on mood

October 7, 2013
Improved understanding of the role of female sex hormones on the drivers and symptoms of premenstrual dysphoric disorder (PMDD) may shed light on the complex interactions between sex hormones and mood, potentially helping ...

Sex hormone-sensitive gene complex linked to premenstrual mood disorder

January 3, 2017
National Institutes of Health (NIH) researchers have discovered molecular mechanisms that may underlie a woman's susceptibility to disabling irritability, sadness, and anxiety in the days leading up to her menstrual period. ...

Perinatal psychiatry, birth trauma and perinatal PTSD

August 25, 2016
It is now blatantly clear that a woman's increased vulnerability to developing PTSD is closely linked to that fact that, when compared to a man, she is much more likely to be the victim of the toxic traumas of childhood sexual ...

Recommended for you

Gene variant activity is surprisingly variable between tissues

August 21, 2017
Every gene in almost every cell of the body is present in two variants called alleles—one from the mother, the other one from the father. In most cases, both alleles are active and transcribed by the cells into RNA. However, ...

Genome analysis with near-complete privacy possible, say researchers

August 17, 2017
It is now possible to scour complete human genomes for the presence of disease-associated genes without revealing any genetic information not directly associated with the inquiry, say Stanford University researchers.

Science Says: DNA test results may not change health habits

August 17, 2017
If you learned your DNA made you more susceptible to getting a disease, wouldn't you work to stay healthy?

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Phenotype varies for presumed pathogenic variants in KCNB1

August 16, 2017
(HealthDay)—De novo KCNB1 missense and loss-of-function variants are associated with neurodevelopmental disorders, with or without seizures, according to a study published online Aug. 14 in JAMA Neurology.

Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders

August 16, 2017
Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.