Abstract
Telomeres are considered to be an internal biological clock, and their progressive shortening has been associated with the risk of age-related diseases and reproductive alterations. Over recent years, an increasing number of studies have focused on the association between telomere length and fertility, identifying sperm telomere length (STL) as a novel biomarker of male fertility. Although typically considered to be repeated DNA sequences, telomeres have recently been shown to also include a long non-coding RNA (lncRNA) known as TERRA (telomeric repeat-containing RNAs). Interestingly, males with idiopathic infertility show reduced testicular TERRA expression, suggesting a link between TERRA and male fertility. The aim of this study was to investigate the role of seminal TERRA expression in embryo quality. To this end, STL and TERRA expression were quantified by Real Time qPCR in the semen of 35 men who underwent assisted reproductive technologies (ART) and 30 fertile men. We found that TERRA expression in semen and STL was reduced in patients that underwent ART (both p < 0.001). Interestingly, TERRA and STL expressions were positively correlated (p = 0.010), and TERRA expression was positively associated with embryo quality (p < 0.001). These preliminary findings suggest a role for TERRA in the maintenance of sperm telomere integrity during gametogenesis, and for the first time, TERRA expression was found as a predictive factor for embryo quality in the setting of assisted reproduction.
Highlights
Infertility is a multifactorial disorder affecting one out of six couples in Western countries, and male factor infertility is implicated in about 50% of cases [1,2,3]
Based on the hypothesis of a likely contribution of TERRA in male fertility, we aimed to evaluate TERRA expression in the semen of men undergoing assisted reproductive technologies (ART) in order to investigate whether a link between this long non-coding RNA (lncRNA) and embryo quality exists with consequential successful outcomes in ART
Blastocyst transfer was performed on only 7 out of the 35 couples included in the study, whilst it was cancelled in those remaining due to genetic anomalies detected by preimplantation genetic diagnosis (PGD)
Summary
Infertility is a multifactorial disorder affecting one out of six couples in Western countries, and male factor infertility is implicated in about 50% of cases [1,2,3]. Well-defined risk factors associated with reduced male fertility have been found [4,5], the identification of novel biomarkers of infertility still remains a significant issue for important progress in global public health. Since spermatogenesis is a highly specialized process, the identification of genetic factors that are not detected by traditional tests and impact upon fertility assumes a particular importance [3]. Since telomeres are a genetic marker of biological age, it is evident that an abnormal and accelerated erosion leads to age-related diseases Their preservation is a fundamental requisite for genome stability
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