Endometriosis: why studying its genetics is important

Endometriosis

The research on the causes of endometriosis is enriched with new pieces. It has long been known that among the various factors that can contribute to the development of the disease, some have a genetic basis. In fact, endometriosis has a certain familiarity, and while the causes remain unknown overall, the consensus is that some of these have to do with genes. Studying the genetics of the disease allows us not only to shed light on the possible mechanisms but, starting from these, also to develop new treatments. And the results that come from the largest research on the genetics of endometriosis that has just been announced promise to lead precisely in this direction.

A pathology that affects 3 million women in Italy

The endometriosis is a disabling disease that manifests itself above all with widespread pain – in the abdomen, intestines, back, pelvis – and infertility. In Italy it is estimated that it affects at least 3 million people, with an incidence of about 10% in women of reproductive age. We talk about endometriosis when the tissue that lines the uterus - the endometrium - begins to grow even outside the uterus, extending to the reproductive organs, such as the fallopian tubes and ovaries, but also beyond, to the bladder and intestines and more rarely the lungs. The presence of this tissue even where it shouldn't cause inflammation, pain, cysts and adhesions, as we told you some time ago. With an enormous load on those who suffer from it, both physically and psychologically. Endometriosis is a benign disease and there are several therapeutic options available to patients, both pharmacological and surgical (for the removal of endometriotic tissue and in the presence of cysts and adhesions).

The pharmacological options are hormonal therapies - administered in different ways, from the pill to the spiral, to the vaginal ring, to patches, estrogen-progestogens or progestogens - and aim to block the growth of new uterine tissue. In some cases, analogues of GnRH (gonadotropin-releasing hormone) are also prescribed, which block the menstrual cycle leading women to menopause, with all the known side effects, recalls the Ministry of Health.

The genetics as a possibility for a faster diagnosis

In an attempt to understand something more about the biological basis of the disease, and perhaps to identify new therapeutic targets for new treatments, with fewer side effects, a team of international researchers has put together the data genetics of over 60,000 women with the disease, and about 700,000 as controls. This is the largest meta-analysis of genome-wide association studies, i.e. studies that aim to identify genetic variants associated with certain diseases, in this case with endometriosis. About forty emerged from the study, mostly new and never identified.

The variants that appear as risk factors for endometriosis are associated with genes plausibly involved in the disease, and which regulate processes such as angiogenesis, inflammation, uterine development, hormone signaling pathways, report the authors from the pages of Nature Genetics. Curiously, when they went looking for them, the researchers also observed correlations between the genetic variants associated with endometriosis and other painful or inflammatory diseases, such as migraines, chronic back pain, asthma and osteoarthritis, suggesting shared mechanisms, reads the paper .

Going back to endometriosis, today's study is certainly a preliminary study but it goes in the direction of optimizing the treatments and even before the diagnosis of the disease, often a sore point for women who suffer from it, such as commented Grant Montgomery of the University of Queensland, an expert in the genetics of endometriosis and one of the authors of the work: "The diagnosis of endometriosis generally takes 8-10 years, having detailed genetic data would allow us to speed up the process" . And obviously, as we mentioned, also improving the therapeutic offer for patients, with new therapies and with the repositioning of existing drugs.

Genetics for the development of new treatments

“ A today the available therapies work in the vast majority of women, with benefits on the reduction of symptoms and progression of the disease - comments to sportsgaming.win Italy Manuel Maria Ianieri , director of the Operative Unit of Gynecology and Breast at Mater Olbia Hospital and endometriosis consultant of the Policlinico Gemelli IRCCS – but there is no doubt that the study of the biological basis of the disease, as it has been for tumors, can lead to the development of more targeted treatments ” .

And in the case of endometriosis, it is realistic to expect that the targets of therapies could be products of genes involved in inflammation, angiogenesis, oncogenesis and apoptosis, continues Ianieri: “The hope is that genetics may one day offer alternatives, perhaps in a personalized manner based on the characteristics of the patient. First, new treatments could help those who are resistant to progesterone” . And perhaps, continues the expert, also helping to reduce side effects for all: if in fact they are generally well tolerated, therapies against endometriosis can still cause spotting, swelling, headaches, irritability, in addition to the effects related to the onset of menopause.

More generally, however, being able to have new treatments would make it possible to meet the different needs of patients with endometriosis from a social and not just a strictly medical point of view, adds Mario Meroni, director to sportsgaming.win Italia. of Obstetrics and Gynecology at the Niguarda Metropolitan Hospital in Milan: "Today we have combined pharmacological and surgical treatments for women with endometriosis, which we use by virtue of the clinical history of the disease and their needs, which are different, depending on age and reproductive desire ” . In fact, the therapies must aim to resolve the symptoms - generally the pain - but also to maintain fertility in some cases: "Some women have no desire for pregnancies, while others perhaps would like to conceive quickly" . It is for this reason, considering these social aspects, that the arrival of new therapies, perhaps based on genetics, would allow clinicians to expand the number of arrows available within the range of clinicians, concludes Meroni: "And considering that having a close relative who suffers from endometriosis increases the risk of having the disease by about ten times, genetic research has a significant role in the development of new treatments” .