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Endometriosis: why studying its genetics is important

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Endometriosis: why studying its genetics is important

The research on cause dell’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. Indeed, endometriosis has a certain familiarityand while overall the causes remain unknown, 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 largest research on the genetics of endometriosis just made known promise to lead in this direction.

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A disease that affects 3 million women in Italy

L’endometriosis is a disease disabling that manifests itself above all with widespread pain – in the abdomen, intestines, back, pelvis – e 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 – theendometrium – also begins to grow outside the uterus, extending to the reproductive organs, such as fallopian tubes and ovaries, but also beyond, to the bladder and intestines, and more rarely to the lungs. The presence of this fabric 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).

Pharmacological options they are hormonal therapies – administered in different ways, from the pill to the spiral, to the vaginal ring, to patches, estrogenic or progestinic – and aim at blocking the growth of new uterine tissue. In some cases, gonadotropin-releasing hormone (GnRH) analogues are also prescribed, which block the period bringing women in menopausewith all known side effects, recalls the Ministry of Health.

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 treatmentswith fewer side effects a team of international researchers has pooled the genetic data of more than 60,000 women with the disease, and about 700,000 as controls. This is the largest meta-analysis of studies di genome-wide associationor studies that aim to identify genetic variants associated with certain diseases, in this case with theendometriosis. About forty emerged from the study, mostly new and never identified.

The variants that appear as risk factors for theendometriosis are associated with genes plausibly involved in the disease, and which regulate processes such as angiogenesis, inflammation, uterine development, hormonal signaling pathways, tell the authors from the pages of Nature Genetics. Curiously, when they went looking for them, the researchers also observed correlations between genetic variants associated with endometriosis and other painful or inflammatory diseasessuch as migraine, chronic back pain, asthma and osteoarthritis, allowing us to imagine 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 treatments and even before disease diagnosisoften a sore point for women who suffer from it, as commented by 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 requires 8-10 yearshaving 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

As of today therapies available they work in the vast majority of women, with benefits in reducing symptoms and disease progression – comments a Wired Italia Manuel Maria Ianieridirector of the Gynecology and Breast Unit of the Mater Olbia Hospital and endometriosis consultant of the Gemelli Polyclinic IRCCS– but there is no doubt that the study of the biological basis of the disease, as it was for tumors, can lead to the development of treatments more targeted.

And in the case of endometriosis, it’s realistic to expect that target of therapies can be products of genes involved in inflammation, angiogenesis, oncogenesis and apoptosis, continues Ianieri: “The hope is that the 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, bloating, headaches, irritabilityin 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 point of view and not just a strictly medical one, adds a Wired Italia Mario Meronidirector of Obstetrics and Gynecology at the Niguarda Metropolitan Hospital in Milan: “Today we have treatments combined, pharmacological and surgical, 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 at resolving the symptoms – generally the pain – but also maintain fertility in some cases: “Some women have no desire for pregnancy, 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 to clinicians, concludes Meroni: “And considering that having a close relative who suffers from endometriosis increases the risk of having the disease by about tenfold, genetic research has a significant role in the development of new treatments”.

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