Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.

IF 3.8 3区医学 Q1 REPRODUCTIVE BIOLOGY

Journal of Ovarian Research Pub Date : 2024-05-17 DOI:10.1186/s13048-024-01425-0

Ines Agusti, Maria Isabel Alvarez-Mora, Robin Wijngaard, Aina Borras, Tamara Barcos, Sara Peralta, Marta Guimera, Anna Goday, Dolors Manau, Laia Rodriguez-Revenga

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引用次数: 0

Abstract

Background: Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1 premutation women will develop FXPOI. We previously demonstrated that high FMR4 levels can discriminate between FMR1 premutation carriers with and without FXPOI. In the present study the relationship between the expression levels of FMR4 and the ovarian reserve markers was assessed in female FMR1 premutation carriers under age of 35 years.

Methods: We examined the association between FMR4 transcript levels and the measures of total antral follicle count (AFC) and serum anti-müllerian hormone (AMH) levels as markers of ovarian follicle reserve.

Results: Results revealed a negative association between FMR4 levels and AMH (r = 0.45) and AFC (r = 0.64). Statistically significant higher FMR4 transcript levels were found among those FMR1 premutation women with both, low AFCs and AMH levels.

Conclusions: These findings reinforce previous studies supporting the association between high levels of FMR4 and the risk of developing FXPOI in FMR1 premutation carriers.

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FMR4 表达水平与 FMR1 预突变携带者卵巢储备标志物的相关性。

背景：20% 的女性 FMR1 预突变携带者会出现脆性 X 相关原发性卵巢功能不全（FXPOI），其特征是在 40 岁之前闭经。目前，还没有分子或生物标志物可以帮助预测哪些 FMR1 预突变女性会患上 FXPOI。我们曾证实，高水平的 FMR4 可以区分 FMR1 预突变携带者是否患有 FXPOI。本研究评估了 35 岁以下女性 FMR1 预突变携带者中 FMR4 表达水平与卵巢储备标志物之间的关系：我们研究了FMR4转录本水平与作为卵巢卵泡储备标志物的前列腺总卵泡数（AFC）和血清抗缪勒氏管激素（AMH）水平之间的关系：结果显示：FMR4水平与AMH（r = 0.45）和AFC（r = 0.64）呈负相关。FMR4转录本水平较高的FMR1预突变女性同时具有较低的AFCs和AMH水平，具有统计学意义：这些发现加强了之前支持高水平 FMR4 与 FMR1 预突变携带者罹患 FXPOI 风险之间关联的研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Ovarian Research REPRODUCTIVE BIOLOGY-

CiteScore

6.20

自引率

2.50%

发文量

125

审稿时长

>12 weeks

期刊介绍： Journal of Ovarian Research is an open access, peer reviewed, online journal that aims to provide a forum for high-quality basic and clinical research on ovarian function, abnormalities, and cancer. The journal focuses on research that provides new insights into ovarian functions as well as prevention and treatment of diseases afflicting the organ. Topical areas include, but are not restricted to: Ovary development, hormone secretion and regulation Follicle growth and ovulation Infertility and Polycystic ovarian syndrome Regulation of pituitary and other biological functions by ovarian hormones Ovarian cancer, its prevention, diagnosis and treatment Drug development and screening Role of stem cells in ovary development and function.

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