Endometrial organoids derived from Mayer–Rokitansky–Küster–Hauser syndrome patients provide insights into disease-causing pathways

Author:

Brucker Sara Y.12,Hentrich Thomas3ORCID,Schulze-Hentrich Julia M.34ORCID,Pietzsch Martin1,Wajngarten Noel5,Singh Anjali Ralhan5,Rall Katharina12,Koch André5ORCID

Affiliation:

1. Department of Women's Health, University of Tübingen, 72076 Tübingen, Germany

2. Rare Disease Center Tübingen, University of Tübingen, 72076 Tübingen, Germany

3. Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany

4. Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, 72076 Tübingen, Germany

5. Research Institute for Women's Health, University of Tübingen, 72076 Tübingen, Germany

Abstract

ABSTRACT The uterus is responsible for the nourishment and mechanical protection of the developing embryo and fetus and is an essential part in mammalian reproduction. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. Although heavily studied, the cause of the disease is still enigmatic. Current research in the field of MRKH mainly focuses on DNA-sequencing efforts and, so far, has been unable to decipher the nature and heterogeneity of the disease, thereby holding back scientific and clinical progress. Here, we developed long-term expandable organoid cultures from endometrium found in uterine rudiment horns of MRKH patients. Phenotypically, they share great similarity with healthy control organoids and are surprisingly fully hormone responsive. Transcriptome analyses, however, identified an array of dysregulated genes that point to potentially disease-causing pathways altered during the development of the female reproductive tract. We consider the endometrial organoid cultures to be a powerful research tool that promise to enable an array of studies into the pathogenic origins of MRKH syndrome and possible treatment opportunities to improve patient quality of life.

Funder

Deutsche Forschungsgemeinschaft

Interdisziplinäres Zentrum für Klinische Forschung

Publisher

The Company of Biologists

Subject

General Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology (miscellaneous),Medicine (miscellaneous),Neuroscience (miscellaneous)

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