The Landscape of Telomere Length and Telomerase in Human Embryos at Blastocyst Stage

The telomere length of human blastocysts exceeds that of oocytes and telomerase activity increases after zygotic activation, peaking at the blastocyst stage. Yet, it is unknown whether aneuploid human embryos at the blastocyst stage exhibit a different profile of telomere length, telomerase gene expression, and telomerase activity compared to euploid embryos. In present study, 154 cryopreserved human blastocysts, donated by consenting patients, were thawed and assayed for telomere length, telomerase gene expression, and telomerase activity using real-time PCR (qPCR) and immunofluorescence (IF) staining. Aneuploid blastocysts showed longer telomeres, higher telomerase reverse transcriptase (TERT) mRNA expression, and lower telomerase activity compared to euploid blastocysts. The TERT protein was found in all tested embryos via IF staining with anti-hTERT antibody, regardless of ploidy status. Moreover, telomere length or telomerase gene expression did not differ in aneuploid blastocysts between chromosomal gain or loss. Our data demonstrate that telomerase is activated and telomeres are maintained in all human blastocyst stage embryos. The robust telomerase gene expression and telomere maintenance, even in aneuploid human blastocysts, may explain why extended in vitro culture alone is insufficient to cull out aneuploid embryos during in vitro fertilization.

Automated summary

This study investigated the telomere length, telomerase gene expression, and telomerase activity in aneuploid blastocysts compared to euploid blastocysts. The results showed that aneuploid blastocysts had longer telomeres, higher TERT mRNA expression, and lower telomerase activity. The presence of telomerase and maintenance of telomeres in aneuploid blastocysts explain why extended in vitro culture alone is insufficient to eliminate aneuploid embryos during in vitro fertilization.