Leveraging epigenetic aberrations in the pathogenesis of endometriosis: from DNA methylation to non-coding RNAs

Hajar Erraji, Adil El Ghanmi, Noureddine Louanjli, Mohamed Benahmed, Fadoua El Mansouri, F. Mansouri, Mohammed Zarqaoui, Bouchra Ghazi
Frontiers in genetics · 2025 · vol. 16 , pp. 1597287 · doi:10.3389/fgene.2025.1597287 · PMID:40792071 · W4412683749
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This review discusses recent findings on epigenetic modifications, including DNA methylation and non-coding RNAs, in the pathophysiology of endometriosis and their potential as early diagnostic biomarkers.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 · read from full text ⓘ

This 2025 paper reviews evidence on epigenetic aberrations in endometriosis, spanning DNA methylation, histone modifications, and regulation by non-coding RNAs (including microRNAs and long RNAs) and related reproductive outcomes such as infertility. Across the included literature, the authors highlight that epigenetic dysregulation is implicated in endometriosis pathogenesis and may involve altered gene expression programs. A key limitation is that the work is a narrative synthesis rather than a new experimental study, so it does not provide original quantitative estimates or standardized assessment of effect sizes. This paper is centrally about endometriosis — it focuses specifically on leveraging epigenetic mechanisms from DNA methylation to non-coding RNAs in endometriosis pathogenesis.

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Abstract

Endometriosis is highly underdiagnosed and undertreated gynecological disorder, with diagnosis often delayed by 8-12 years. This delay can have serious consequences including infertility. Currently, the gold standard for endometriosis diagnosis and treatment is laparoscopy, an invasive surgical intervention. The molecular mechanisms underlying the onset of endometriosis are yet unclear, but it is assumed that epigenetic modifications are an important contributor in the etiopathology of the disease. Given that, dissecting the features of epigenetic aberrations underlying endometriosis can be a crucial step toward developing early and accurate non-invasive diagnostic tools. Accurate and timely diagnosis of endometriosis can significantly reduce healthcare costs, and enhance women's social wellbeing. Epigenetic modifications especially DNA methylation, micro-RNAs and long-RNAs, hold promise as potential biomarkers for the early diagnosis of endometriosis. This review underscores the innovative potential of epigenetic mechanisms as early biomarkers for endometriosis diagnosis. We summarize and critically discuss recent findings and epigenetic modifications role in endometriosis pathophysiology, from DNA methylation and histone modifications to non-coding RNAs in different tissues.
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%PDF-1.4 %���� 1 0 obj <> endobj 7 0 obj <> endobj 2 0 obj <> endobj 3 0 obj <> endobj 4 0 obj <> stream dvips + MiKTeX GPL Ghostscript 9.0 endometriosis, epigenetic modifications, DNA methylation, histone modifications, non-coding RNAs, micro-RNAs, long-RNAs, infertility Leveraging epigenetic aberrations in the pathogenesis of endometriosis: from DNA methylation to non-coding RNAs Hajar Erraji Adil El Ghanmi Noureddine Louanjli Mohamed Benahmed Fadoua El Mansouri Mohammed Zarqaoui Bouchra Ghazi Erraji H, El Ghanmi A, Louanjli N, Benahmed M, El Mansouri F, Zarqaoui M and Ghazi B (2025), Leveraging epigenetic aberrations in the pathogenesis of endometriosis: from DNA methylation to non-coding RNAs. Front. Genet. 16:1597287. doi: 10.3389/fgene.2025.1597287 endometriosisepigenetic modificationsDNA methylationhistone modificationsnon-coding RNAsmicro-RNAslong-RNAsinfertility Copyright © 2025 Erraji, El Ghanmi, Louanjli, Benahmed, El Mansouri, Zarqaoui and Ghazi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. True https://www.frontiersin.org/legal/copyright-statement false false endstream endobj 5 0 obj <> endobj 6 0 obj <> endobj 8 0 obj <> endobj 9 0 obj <> endobj 10 0 obj 3797 endobj 11 0 obj <> endobj 12 0 obj <> endobj 13 0 obj <> endobj 14 0 obj <> endobj 15 0 obj << /Limits [ ] /Names [ 49 0 R 50 0 R 51 0 R 52 0 R 53 0 R 54 0 R 55 0 R 56 0 R 57 0 R 58 0 R 59 0 R 60 0 R 61 0 R 62 0 R 63 0 R 64 0 R 65 0 R 66 0 R 67 0 R 68 0 R 69 0 R 70 0 R 71 0 R 72 0 R 73 0 R 74 0 R 75 0 R 76 0 R 77 0 R 78 0 R 79 0 R 80 0 R 81 0 R 82 0 R 83 0 R 84 0 R 85 0 R 86 0 R 87 0 R 88 0 R 89 0 R 90 0 R 91 0 R 92 0 R 93 0 R 94 0 R 95 0 R 96 0 R 97 0 R 98 0 R 99 0 R 100 0 R 101 0 R 102 0 R 103 0 R 104 0 R 105 0 R 106 0 R 107 0 R 108 0 R 109 0 R 110 0 R 111 0 R 112 0 R] >> endobj 16 0 obj << /Limits [ ] /Names [ 113 0 R 114 0 R 115 0 R 116 0 R 117 0 R 118 0 R 119 0 R 120 0 R 121 0 R 122 0 R 123 0 R 124 0 R 125 0 R 126 0 R 127 0 R 128 0 R 129 0 R 130 0 R 131 0 R 132 0 R 133 0 R 134 0 R 135 0 R 136 0 R 137 0 R 138 0 R 139 0 R 140 0 R 141 0 R 142 0 R 143 0 R 144 0 R 145 0 R 146 0 R 147 0 R 148 0 R 149 0 R 150 0 R 151 0 R 152 0 R 153 0 R 154 0 R 155 0 R 156 0 R 157 0 R 158 0 R 159 0 R 160 0 R 161 0 R 162 0 R 163 0 R 164 0 R 165 0 R 166 0 R 167 0 R 168 0 R 169 0 R 170 0 R 171 0 R 172 0 R 173 0 R 174 0 R 175 0 R 176 0 R] >> endobj 17 0 obj << /Limits [ ] /Names [ 177 0 R 178 0 R 179 0 R 180 0 R 181 0 R 182 0 R 183 0 R 184 0 R 185 0 R 186 0 R 187 0 R 188 0 R 189 0 R 190 0 R 191 0 R 192 0 R 193 0 R 194 0 R 195 0 R 196 0 R 197 0 R 198 0 R 199 0 R 200 0 R 201 0 R 202 0 R 203 0 R 204 0 R 205 0 R 206 0 R 207 0 R 208 0 R 209 0 R 210 0 R 211 0 R 212 0 R 213 0 R 214 0 R 215 0 R 216 0 R 217 0 R 218 0 R 219 0 R 220 0 R 221 0 R 222 0 R 223 0 R 224 0 R 225 0 R 226 0 R 227 0 R 228 0 R 229 0 R 230 0 R 231 0 R 232 0 R 233 0 R 234 0 R 235 0 R 236 0 R 237 0 R 238 0 R 239 0 R 240 0 R] >> endobj 18 0 obj << /Limits [ ] /Names [ 241 0 R 242 0 R 243 0 R 244 0 R 245 0 R 246 0 R 247 0 R 248 0 R 249 0 R 250 0 R 251 0 R 252 0 R 253 0 R 254 0 R 255 0 R 256 0 R 257 0 R 258 0 R 259 0 R 260 0 R 261 0 R 262 0 R 263 0 R 264 0 R 265 0 R 266 0 R 267 0 R 268 0 R 269 0 R 270 0 R 271 0 R 272 0 R 273 0 R 274 0 R 275 0 R 276 0 R 277 0 R 278 0 R 279 0 R 280 0 R 281 0 R 282 0 R 283 0 R 284 0 R 285 0 R 286 0 R 287 0 R 288 0 R 289 0 R 290 0 R 291 0 R

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