Shulhai Anna-Mariia, Munerati Anna, Menzella Marialaura, Palanza Paola, Esposito Susanna, Street Maria Elisabeth
Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, University of Parma, Parma, 43126, Italy.
Department of Pediatrics №2, Ivan Horbachevsky Ternopil National Medical University, Ternopil, Ukraine.
J Endocrinol Invest. 2025 Apr;48(4):817-830. doi: 10.1007/s40618-024-02513-0. Epub 2024 Dec 20.
Puberty is a key phase of growth and development, characterized by psychophysical transformations. It is driven by a combination of genetic, hormonal, and environmental variables. Epigenetic mechanisms, including histone post-translational modifications and chromatin remodeling, microRNAs, and DNA methylation, play important roles in orchestrating the developmental processes. We describe environmental factors that may interact with genetics, and factors influencing puberty onset, focusing in particular on epigenetic mechanisms that can help understand the timing and variations that lead to precocious or delayed puberty.
We conducted a narrative review of associations between puberty and epigenetic mechanisms through a comprehensive search of PubMed, Scopus, and Web of Science databases.
The chromatin landscape of genes as KISS1 has revealed dynamic changes in histone modifications as puberty approaches, influencing the stimulation or inhibition of gene expression critical for reproductive maturation. MiRNAs regulate gene expression, whereas DNA methylation affects activation or repression of gene transcription of genes involved in pubertal timing. Moreover, studies in animal models have provided insights into the role of DNA methylation and miRNAs in brain sexual differentiation, highlighting the active involvement of epigenetic mechanisms in shaping sexually dimorphic brain structures.
This review highlights the importance of understanding the complex interplay between epigenetic regulation and pubertal development, which can lead to new therapeutic options and shed light on the fundamental processes driving reproductive maturation.
青春期是生长发育的关键阶段，其特征为身心发生变化。它由遗传、激素和环境变量共同驱动。表观遗传机制，包括组蛋白翻译后修饰和染色质重塑、微小RNA以及DNA甲基化，在协调发育过程中发挥重要作用。我们描述了可能与遗传相互作用的环境因素以及影响青春期开始的因素，特别关注有助于理解导致性早熟或青春期延迟的时间和差异的表观遗传机制。
我们通过全面检索PubMed、Scopus和Web of Science数据库，对青春期与表观遗传机制之间的关联进行了叙述性综述。
随着青春期临近，如KISS1等基因的染色质格局显示出组蛋白修饰的动态变化，影响对生殖成熟至关重要的基因表达的刺激或抑制。微小RNA调节基因表达，而DNA甲基化影响参与青春期时间调控的基因的转录激活或抑制。此外，动物模型研究为DNA甲基化和微小RNA在脑性分化中的作用提供了见解，突出了表观遗传机制在塑造两性异形脑结构中的积极参与。
本综述强调了理解表观遗传调控与青春期发育之间复杂相互作用的重要性，这可能带来新的治疗选择，并揭示驱动生殖成熟的基本过程。
