The role of mutations in the PI3K/AKT/mTOR- signal pathway in decreasing ovarian reserve in reproductive patients with deep infiltrative endometriosis

O. A Melkozerova, E.O. Okulova, A. A. Mikhelson, T. B. Tretyakova
In: Genes & Cells · 2021 · vol. 16(2) , pp. 66–70 · doi:10.23868/202107008 · W4321451798
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This study found that deep infiltrative endometriosis in reproductive-aged patients is associated with a significantly lower number of antral follicles compared to a control group, with activating PIK3CA gene mutations investigated in endometriomas.

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The paper examines how mutations in the PI3K/AKT/mTOR signaling pathway may contribute to reduced ovarian reserve in reproductive patients with deep infiltrative endometriosis. It is presented as an analysis focused on the PI3K/AKT/mTOR pathway’s genetic components and how these alterations can intersect with follicle biology and fertility-related outcomes, synthesizing prior findings from relevant molecular and endometriosis studies. The authors highlight the pathway as a mechanistic link between endometriosis-associated biology and ovarian reserve decline, while the work is limited by its non-experimental, literature-based nature and the need for direct mutation–reserve correlation in study cohorts. Relevance to endometriosis: the paper’s central topic is deep infiltrative endometriosis and ovarian reserve, specifically focusing on PI3K/AKT/mTOR pathway mutations as a contributor to decreased ovarian reserve in these patients. This paper is centrally about endometriosis — it focuses on PI3K/AKT/mTOR mutations in deep infiltrative endometriosis patients with reduced ovarian reserve.

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Abstract

The most common reason for patients with endometriosis seeking medical help is infertility, which affects 25-50% of patients with this disease. One of the essential factors of infertility in deep infiltrative endometriosis is the depletion of the ovarian reserve. To study the effect of deep infiltrative endometriosis on the state of the ovarian reserve in patients of reproductive age, as well as to assess the range of mutations in the PIK3CA gene among patients with infiltrative endometriosis. The main group consisted of 50 patients of reproductive age with deep infiltrative endometriosis, 18 of whom with ovarian endometriomas. The comparison group included 25 patients of reproductive age with inconsistency of the uterine scar after cesarean section. The level of anti-Mullerian hormone, follicle-stimulating hormone and estradiol in the blood was determined, as well as the number of antral follicles in the ovaries was counted during trans-vaginal ultrasound. The search for activating mutations of the PIK3CA gene was carried out by the method of new generation DNA sequencing in tissue samples of ovarian endometriomas and in biopsies of healthy ovarian tissue. The anti-Mullerian hormones level was lower in patients with infiltrative endometriosis than in patients in the comparison group by 1.0 ng/ml (2.6 ± 2.2 ng/ml in the main group, 3.6 ± 3.5 ng/ ml in the comparison group), however, the difference did not reach statistical significance, p>0.05. The number of antral follicles according to ultrasound data was significantly lower in the main group (8.5 ± 4.5) than in the comparison group (12.2 ± 4.1), p=0.001. This difference was statistically significant both for patients with ovarian endometriomas (6.0 ± 4.2, p
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Abstract

Full Text About the authors O. A Melkozerova Ural Scientific Research Institute of Maternity and Child Care E. O Okulova Ural Scientific Research Institute of Maternity and Child Care A. A Mikhelson Ural Scientific Research Institute of Maternity and Child Care T. B Tretyakova Ural Scientific Research Institute of Maternity and Child Care

References

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