Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare disease characterized by congenital aplasia of uterus and vagina. Although many studies have investigated several candidate genes, up to now none of them seem to be responsible for the aetiology of the syndrome. In our study, we identified di...

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Autores principales: Cristina Nodale, Simona Ceccarelli, Mariateresa Giuliano, Marcella Cammarota, Sirio D'Amici, Enrica Vescarelli, Diana Maffucci, Filippo Bellati, Pierluigi Benedetti Panici, Ferdinando Romano, Antonio Angeloni, Cinzia Marchese
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spelling oai:doaj.org-article:a68533579709469cb53d334b04136b6c2021-11-18T08:29:07ZGene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.1932-620310.1371/journal.pone.0091010https://doaj.org/article/a68533579709469cb53d334b04136b6c2014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24608967/?tool=EBIhttps://doaj.org/toc/1932-6203Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare disease characterized by congenital aplasia of uterus and vagina. Although many studies have investigated several candidate genes, up to now none of them seem to be responsible for the aetiology of the syndrome. In our study, we identified differences in gene expression profile of in vitro cultured vaginal tissue of MRHKS patients using whole-genome microarray analysis. A group of eight out of sixteen MRKHS patients that underwent reconstruction of neovagina with an autologous in vitro cultured vaginal tissue were subjected to microarray analysis and compared with five healthy controls. Results obtained by array were confirmed by qRT-PCR and further extended to other eight MRKHS patients. Gene profiling of MRKHS patients delineated 275 differentially expressed genes, of which 133 downregulated and 142 upregulated. We selected six deregulated genes (MUC1, HOXC8, HOXB2, HOXB5, JAG1 and DLL1) on the basis of their fold change, their differential expression in most patients and their relevant role in embryological development. All patients showed upregulation of MUC1, while HOXB2 and HOXB5 were downregulated, as well as Notch ligands JAG1 and DLL1 in the majority of them. Interestingly, HOXC8 was significantly upregulated in 47% of patients, with a differential expression only in MRKHS type I patients. Taken together, our results highlighted the dysregulation of developmental genes, thus suggesting a potential alteration of networks involved in the formation of the female reproductive tract and providing a useful clue for understanding the pathophysiology of MRKHS.Cristina NodaleSimona CeccarelliMariateresa GiulianoMarcella CammarotaSirio D'AmiciEnrica VescarelliDiana MaffucciFilippo BellatiPierluigi Benedetti PaniciFerdinando RomanoAntonio AngeloniCinzia MarchesePublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 3, p e91010 (2014)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Cristina Nodale
Simona Ceccarelli
Mariateresa Giuliano
Marcella Cammarota
Sirio D'Amici
Enrica Vescarelli
Diana Maffucci
Filippo Bellati
Pierluigi Benedetti Panici
Ferdinando Romano
Antonio Angeloni
Cinzia Marchese
Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.
description Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare disease characterized by congenital aplasia of uterus and vagina. Although many studies have investigated several candidate genes, up to now none of them seem to be responsible for the aetiology of the syndrome. In our study, we identified differences in gene expression profile of in vitro cultured vaginal tissue of MRHKS patients using whole-genome microarray analysis. A group of eight out of sixteen MRKHS patients that underwent reconstruction of neovagina with an autologous in vitro cultured vaginal tissue were subjected to microarray analysis and compared with five healthy controls. Results obtained by array were confirmed by qRT-PCR and further extended to other eight MRKHS patients. Gene profiling of MRKHS patients delineated 275 differentially expressed genes, of which 133 downregulated and 142 upregulated. We selected six deregulated genes (MUC1, HOXC8, HOXB2, HOXB5, JAG1 and DLL1) on the basis of their fold change, their differential expression in most patients and their relevant role in embryological development. All patients showed upregulation of MUC1, while HOXB2 and HOXB5 were downregulated, as well as Notch ligands JAG1 and DLL1 in the majority of them. Interestingly, HOXC8 was significantly upregulated in 47% of patients, with a differential expression only in MRKHS type I patients. Taken together, our results highlighted the dysregulation of developmental genes, thus suggesting a potential alteration of networks involved in the formation of the female reproductive tract and providing a useful clue for understanding the pathophysiology of MRKHS.
format article
author Cristina Nodale
Simona Ceccarelli
Mariateresa Giuliano
Marcella Cammarota
Sirio D'Amici
Enrica Vescarelli
Diana Maffucci
Filippo Bellati
Pierluigi Benedetti Panici
Ferdinando Romano
Antonio Angeloni
Cinzia Marchese
author_facet Cristina Nodale
Simona Ceccarelli
Mariateresa Giuliano
Marcella Cammarota
Sirio D'Amici
Enrica Vescarelli
Diana Maffucci
Filippo Bellati
Pierluigi Benedetti Panici
Ferdinando Romano
Antonio Angeloni
Cinzia Marchese
author_sort Cristina Nodale
title Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.
title_short Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.
title_full Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.
title_fullStr Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.
title_full_unstemmed Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.
title_sort gene expression profile of patients with mayer-rokitansky-küster-hauser syndrome: new insights into the potential role of developmental pathways.
publisher Public Library of Science (PLoS)
publishDate 2014
url https://doaj.org/article/a68533579709469cb53d334b04136b6c
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