子宮内膜症を非侵襲で早期診断するバイオマーカーを特定 (Diagnosing Endometriosis: Biomarkers Enable Early, Noninvasive Detection)

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2026-01-15 イェール大学

米イェール大学医学部の研究チームは、子宮内膜症を早期に非侵襲的に検出できる新しいバイオマーカー群を発見し、簡単な血液検査による診断法の可能性を示した。子宮内膜症は、子宮内膜に似た組織が子宮外に発生する疾患で、痛みや不妊の原因となるが、確定診断にはこれまで腹腔鏡手術が必要で、診断まで平均8〜10年かかることも多い。研究では、血中を循環するmicroRNAの発現パターンが、初期段階の子宮内膜症患者で健常者と異なることを示し、若年患者でも識別可能であることを確認した。この発見により、将来的には手術を伴わない早期診断が可能となり、患者の苦痛軽減と治療開始の遅れ防止につながることが期待される。今後さらなる検証試験を経て臨床応用化を目指す。

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血清マイクロRNAを思春期および若年成人の子宮内膜症のバイオマーカーとして特定する Identifying serum microRNAs as biomarkers for endometriosis in adolescents and young adults

Alla Vash-Margita,Ramanaiah Mamillapalli,Karthik Pyneni,Davis Morgenstern & Hugh S. Taylor
Reproductive Biology and Endocrinology  Published:24 November 2025
DOI:https://doi.org/10.1186/s12958-025-01502-z

子宮内膜症を非侵襲で早期診断するバイオマーカーを特定 (Diagnosing Endometriosis: Biomarkers Enable Early, Noninvasive Detection)

Abstract

Background

Endometriosis is a gynecological disorder that affects 190 million reproductive age women worldwide. Laparoscopic surgery is considered the gold standard to diagnose the disease, creating a barrier to diagnosis and leading to long delays in disease recognition. MicroRNAs may be useful in the diagnosis of this disease, however the ability to detect early disease in adolescents may be improved by identifying microRNAs specific to this population.

Methods

This was a prospective clinical study evaluating adolescent patients with pelvic pain undergoing gynecologic surgery in an academic medical center. We enrolled 63 adolescent and young adult patients aged 13–26 years old undergoing gynecologic surgery between 2019 and 2024. Clinically relevant phenotypic and surgical information were recorded as well as evaluation of microRNAs abundance. We assessed microRNAs abundance by extracting total RNA from the serum samples and performed RNA-sequencing (RNAseq).

Results

The mean age of adolescent women in the study was 16.3 and 15.9 for the endometriosis (n = 31) and control groups (n = 20), respectively. The mean BMI was 24.5 kg/m2 and 29.0 kg/m2 in the endometriosis and control groups, respectively. RNA-seq data analysis showed differential abundance of 859 microRNAs. Among 859 microRNAs, 488 were increased and 391 were decreased. We next selected those that were most distinct, with little overlap between subjects and controls. Four microRNAs were highly significantly increased while eighteen microRNAs were highly significantly decreased. We defined a signature of microRNAs that best distinguished subjects with endometriosis from controls.

Conclusions

This is the first study to reveal the differential abundance of microRNAs specifically in adolescent patients with endometriosis. There are distinct differences from those identified in adult women with endometriosis. Our findings present a unique signature of microRNA found in the serum of adolescents with endometriosis. This finding may be useful as a noninvasive biomarker to diagnose early disease in adolescents. Non-invasive diagnosis may allow for early diagnosis and prevention of disease progression.

医療・健康
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