"Development genetics of endometriosis"

Vladislav S. Baranov and Yarmolinskaya M.I

D.O. Ott’s Institute of Obstetrics, Gynecology & Reproductology, Russian Federation

DOI: 10.29011/2577-2236-C1-005

Major recent advances in endometriosis (EM) should be addressed to wide application of new molecular technologies as well as to the systems genetic (omics -) view of EM development. We suggest the existence of specific endometriosis development program (EMDP) underlying EM pathogenesis. We hypothesize EMDP is switched on in the stem cells (SC) of endometrium or mesenchymal SC and provides their progression to full disease with at least three sensitive (critical) periods (SP) corresponding to their genome reprogramming. The origin of genetically and epigenetically modified embryonic SC destined to give rise to EM (SP1). Epithelial mesenchymal cell transition potentiated by unfavourable genetic and epigenetic factors (SP2). Invasion of EM prone cells in the peritoneum with their subsequent progression to endometriotic lesions (SPIII). The origin of EM directly from embryonic SC of muller ducts disseminated within pelvic cavity during embryogenesis is also suspected. The genes and affected metabolic pathways operative at each SP are already known. The unique genetic background, unpredictable “epigenetic landscape” of personal SC launch EMDP which soon after its start becomes canalized and proceeds to final EM disease, each with its own specific laboratory traits and clinical manifestations features. To our mind the EMDP as a whole and especially its SP should be used for elaboration of new strategies in prediction, prevention, and personalized treatment of EM.

Vladislav S. Baranov born in 1940 graduated Medical Institute in Lvov (Ukraina), postgraduate courses and PhD degree had at the Institute of Experimental Medicine, Saint-Petersburg (Russia). Since 1987 up to now- the Head of the laboratory for prenatal diagnosis of inherited and inborn disorders at the Ott’s Institute of Obstetrics, Gynecology & Reproductology. Professor in Genetics, Corresponding Member of Russian Academy of Sciences, Honorary Scientist of Russia, Chief City Expert in Medical Genetics, he is the author and co-author of 30 books and over 400 articles.

baranov@vb2475.spb.edu

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