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Endometriosis is associated with a significant increase in hTERC and altered telomere/telomerase associated genes in the eutopic endometrium; an ex-vivo and in silico study

Lookup NU author(s): Dr Gabriele Saretzki



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Telomeres protect chromosomal ends and they are maintained by the specialised enzyme, telomerase. Endometriosis is a common gynaecological disease and high telomerase activity and higher hTERT levels associated with longer endometrial telomere lengths are characteristics of eutopic secretory endometrial aberrations of women with endometriosis. Our ex-vivo study examined the levels of hTERC and DKC1 RNA and dyskerin protein levels in the endometrium from healthy women and those with endometriosis (n=117). The in silico study examined endometriosis-specific telomere- and telomerase-associated gene (TTAG) transcriptional aberrations of secretory phase eutopic endometrium utilising publicly available microarray datasets. Eutopic secretory endometrial hTERC levels were significantly increased in women with endometriosis compared to healthy endometrium, yet dyskerin mRNA and protein levels were unperturbed. Our in silico study identified 10 TTAGs (CDKN2A, PML, ZNHIT2, UBE3A, MCCC2, HSPC159, FGFR2, PIK3C2A, RALGAPA1, HNRNPA2B1) to be altered in mid-secretory endometrium of women with endometriosis. High levels of hTERC and the identified other TTAGs will be part of the established alteration in the eutopic endometrial telomerase biology in women with endometriosis in the secretory phase of the endometrium and our data informs future research to unravel the fundamental involvement of telomerase in the pathogenesis of endometriosis.

Publication metadata

Author(s): Alnafakh A, Choi F, Bradfield A, Adishesh M, Saretzki G, Hapangama D

Publication type: Article

Publication status: Published

Journal: Biomedicines

Year: 2020

Volume: 8

Issue: 12

Online publication date: 09/12/2020

Acceptance date: 03/12/2020

Date deposited: 03/12/2020

ISSN (electronic): 2227-9059

Publisher: MDPI AG


DOI: 10.3390/biomedicines8120588


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