Researchers have found that 50% of women with polycystic ovary syndrome have certain variations in a gene related to testosterone production. This observation could help develop new approaches against this important cause of infertility.
Polycystic ovary syndrome is one of the most common causes of female infertility in the world, affecting between 5% and 15% of women of childbearing age.
This disease can manifest itself very differently from one woman to another. In addition to the appearance of cysts on the ovaries, symptoms include irregular or sometimes absent periods, changes in hair and weight, acne breakouts, and even an increased risk of developing type 2 diabetes. .
Its origins remain unknown, and although it is possible to treat certain symptoms, there is no medicine targeting the causes of the syndrome.
It is known, however, that this disease has an important hereditary element. The risk of developing it can be up to 20% higher in women whose sisters are affected.
It is by exploring this family aspect that American researchers have found a gene (New Window) which variations are present in 50% of people affected.
This important genetic link could not only help determine one of the causative agents of this disease, but could also allow the creation of a reliable screening test or even serve as a therapeutic target.
It has long been suspected that polycystic ovary syndrome is linked to hormonal imbalance. High levels of androgens, such as testosterone, interfere with normal egg maturation and are responsible for many of the symptoms typically seen in women with the disease.
However, the origin of such an imbalance is not clearly established and could even be multifactorial, concerning both genetic and environmental factors. Other studies have already shown links between several genes and this disease, but most explain only a small percentage of cases.
This is where the study of American researchers makes a big step. By sequencing the DNA of more than 261 people from 62 families with a history of significant polycystic ovarian syndrome, they were able to discover a gene whose functioning was impaired in up to 50% of the affected women.
The latter, named DENND1A, is an important regulator of the production of testosterone, a hormone that, although present in a lower concentration in women than in men, remains extremely important for the functioning of the ovarian cycle.
Researchers have noted that this gene works differently in affected women, and these changes in testosterone production are consistent with the most common symptoms of this syndrome.
Other studies had already established that the DENND1A gene was a potential cause of this disease, but these observations failed to link the hereditary aspect of this syndrome. Although a change in DENND1A occurred in 50% of cases, each family seemed to have a variation of its own.
The researchers believe that the link established in their study could lead to the development of genetic screening tests able to detect women at risk and to undertake certain preventive treatments before the appearance of the first symptoms.
It may even be possible to find molecules that can restore DENND1A activity to normal levels, thus allowing some form of treatment.
Such advances, however, can not be put in place until these results are confirmed in other studies. In addition, this work was done on a small population of European origin. It is therefore possible that other genetic variants may be of greater importance in other populations around the world.
Phyllis Reddon is a general assignment reporter at Rise Media. She has covered sports, entertainment and many other beats in her journalism career, and has lived in New York for more than 6 years. Phyllis has appeared periodically on national television shows and has been published in (among others) Yahoo News,, Politico, The Atlantic, Harper’s, Wired.com, Vice and Salon.com.