Research Topic

Female infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency

About this Research Topic

Female infertility represents a growing health problem especially in industrialized countries, where the ongoing trend of delaying pregnancy beyond the age of 35 results in a significant reduction in fertility rates. Worldwide, infertility affects between 8 and 12% of reproductive-aged couples. Ovarian aging ...

Female infertility represents a growing health problem especially in industrialized countries, where the ongoing trend of delaying pregnancy beyond the age of 35 results in a significant reduction in fertility rates. Worldwide, infertility affects between 8 and 12% of reproductive-aged couples. Ovarian aging occurs decades before other organs. Menopause ensues around 51 years of age, and is characterized by the cessation of the ovarian function. However, fertility begins to decline around 30 years of age. By the time they reach 40-41, women have only a 5% chance of becoming pregnant, and this is also the median age at last birth in most studied populations. The understanding of the molecular mechanisms and genetic factors underlying menopause, reproductive ageing and primary ovarian insufficiency (POI) is fundamental to find ways to preserve fertility and protect women from menopause-related pathologies.

With this Research topic, we would like to tackle the problem of female infertility, in relation to age and genetic disorders, in particular POI, which affects about 1% of women under age 40. The main factors associated with ovarian ageing are the reduction of the number of oocytes – the ovarian reserve- and their quality. The underlying mechanisms can in part overlap with those involved in POI. POI is a heterogeneous disorder of multifactorial origin and results from the accelerated depletion of ovarian follicles due to disruption of critical ovarian processes, including the establishment of the ovarian reserve and the regulation of follicle dynamics. In addition, chronic inflammation is often associated with POI.

Several genetics factors have been identified for ovarian ageing, including FOXL2, STAG3, FOXO3a, and several X-linked genes e.g. FMR1 and BMP15. Examples of known molecular mechanisms involved in ovarian dysfunction and ageing include impaired DNA recombination, DNA damage response (DDR), PTEN/PI3K/Akt pathway, hormone synthesis, and FSH and AMH downstream signaling. To date, POI remains poorly understood, and the cause of 90% of cases is unknown. We aim to provide an overview of what is known about the genetic and molecular causes of female infertility, and to highlight new mechanisms underlying the function and aging of the ovary. This would help to identify therapeutic approaches to preserve female fertility, by providing potential targets of intervention (e.g. genes/proteins/molecules) that could be exploited for clinical use.

Authors are invited to submit Original Research articles and Reviews covering the following topics:

- Genetic mechanisms leading to ovarian ageing and female infertility
- Molecular mechanisms, genetic factors and pathways regulating ovarian development, function, and ageing.
- Female infertility rates worldwide and how they are affected by genetic factors and lifestyle.


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Submission Deadlines

12 January 2021 Manuscript
11 February 2021 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

12 January 2021 Manuscript
11 February 2021 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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