The ovarian kaleidoscope and the new molecular bases of folliculogenesis

In 1999, a web-site was launched in the USA summarizing available data on gene expression in the human ovarian tissue (http://okdb.appliedbioinfo.net/). This project was called the "Ovarian Kaleidoscope". Each gene found to be expressed in the human ovaries was studied in terms of its function at various stages of ovarian development as well as at various stages of folliculogenesis and corpus luteum function. Functions of certain genes were also investigated in mouse models with a "turned off" or an "enhanced" gene function. Monogenic diseases affecting reproductive function are studied in this project with regard to the role certain genes play in the formation of a clinical picture. Thus, we have a database where one can analyze functions of individual genes, which is important for the choice of optimal stimulation regimens, the study of the role of various factors influencing follicle growth as well as for the development of new methods for infertility treatment.

Despite significant achievements in infertility treatment, there are still cases in clinical practice when it is impossible to retrieve oocytes suitable for fertilization. The article (Feng R. et al. Mutations in TUBB8 and Human Oocyte Meiotic Arrest // N Engl J Med. 2016 Jan 21;374(3):223–32.) demonstrates that a mutation in the Tubulin gene can lead to a complete failure of oocyte maturation in IVF/ICSI programmes. The cases of non-drug-related "empty follicle" syndrome may be associated with LH receptor mutations (Yuan P. et al. Genetic evidence of ‘genuine’ empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature // Hum Reprod. 2017 Feb 8:1–10). The problem of total fertilization failure in ICSI programmes and the ways for its solution have also been studied in recent years (Yuan P. et al. Genetic evidence of ‘genuine’ empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature//Hum Reprod. 2017 Feb 8:1-10). The achievements made in Molecular Biology and Genetics over the past decades open up new opportunities for infertility treatment.