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多囊卵巢综合征:疾病背后的表观遗传学。

Polycystic Ovary Syndrome: the Epigenetics Behind the Disease.

机构信息

Department of Gynecology and Obstetrics, Ribeirao Preto Medical School, University of Sao Paulo, Av Bandeirantes, 3900, Ribeirão Preto, São Paulo, 14049-900, SP, Brazil.

Drug Research and Development Center, Department of Physiology and Pharmacology, Federal University of Ceara, Coronel Nunes de Melo, 1000, Rodolfo Teófilo, Fortaleza, 60430-275, CE, Brazil.

出版信息

Reprod Sci. 2022 Mar;29(3):680-694. doi: 10.1007/s43032-021-00516-3. Epub 2021 Apr 7.

Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders, affecting approximately 5-20% of women of reproductive age. PCOS is a multifactorial, complex, and heterogeneous disease, characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovaries, which may lead to impaired fertility. Besides the reproductive outcomes, multiple comorbidities, such as metabolic disturbances, insulin resistance, obesity, diabetes, and cardiovascular disease, are associated with PCOS. In addition to the clear genetic basis, epigenetic alterations may also play a central role in PCOS outcomes, as environmental and hormonal alterations directly affect clinical manifestations and PCOS development. Here, we highlighted the epigenetic modifications in the multiplicity of clinical manifestations, as well as environmental epigenetic disruptors, as intrauterine hormonal and metabolic alterations affecting embryo development and the adulthood lifestyle, which may contribute to PCOS development. Additionally, we also discussed the new approaches for future studies and potential epigenetic biomarkers for the treatment of associated comorbidities and improvement in quality of life of women with PCOS.

摘要

多囊卵巢综合征(PCOS)是最常见的内分泌疾病之一,影响约 5-20%的育龄妇女。PCOS 是一种多因素、复杂且异质性的疾病,其特征是高雄激素血症、排卵功能障碍和多囊卵巢,这可能导致生育能力受损。除了生殖结局外,多种合并症,如代谢紊乱、胰岛素抵抗、肥胖、糖尿病和心血管疾病,与 PCOS 相关。除了明确的遗传基础外,表观遗传改变也可能在 PCOS 结局中发挥核心作用,因为环境和激素改变直接影响临床表现和 PCOS 的发展。在这里,我们强调了表观遗传修饰在多种临床表现中的作用,以及环境表观遗传干扰物,如宫内激素和代谢改变,影响胚胎发育和成年期的生活方式,这可能导致 PCOS 的发展。此外,我们还讨论了未来研究的新方法和潜在的表观遗传生物标志物,以治疗相关合并症和提高 PCOS 妇女的生活质量。

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