Department of Reproductive Biotechnology, Reproductive Biomedicine Research Centre, Royan Institute for Biotechnology, ACECR, Isfahan, Iran.
College of Medicine, Member of QU Health, Qatar University, PO Box 2713, Doha, Qatar.
Reprod Biomed Online. 2018 Mar;36(3):348-355. doi: 10.1016/j.rbmo.2017.12.013. Epub 2017 Dec 29.
Globozoospermia is characterized by the presence of 100% acrosomeless round-headed spermatozoa in an ejaculate. Failed fertilization after intracytoplasmic sperm injection (ICSI) is commonly reported for globozoospermic couples and can be overcome by artificial oocyte activation (AOA). Phospholipase C zeta (PLCζ) is one of the main sperm factors involved in oocyte activation and its low expression levels mainly account for fertilization failure. Deletion of the DPY19L2 gene is reported as a main genetic cause in over 70% of infertile men with globozoospermia. The current study assesses the expression profile of sperm PLCζ at RNA and protein levels in 32 DPY19L2 deletion-mediated globozoospermic men and reports corresponding clinical outcomes following ICSI with AOA. The expression of PLCζ relative to GAPDH at RNA (0.78 ± 0.16 versus 1.65 ± 0.24; P = 0.02) and protein (0.39 ± 0.12 versus 0.83 ± 0.13; P = 0.01) levels in globozoospermic men with DPY19L2 deletion was significantly lower compared with fertile men (n = 32). Fertilization rate in globozoospermic couples following ICSI-AOA was significantly lower compared with fertile men (53.14 ± 5.13% versus 87.64 ± 2.38%, P < 0.001). However, implantation (26.2%) and pregnancy (53.8%) rates were not jeopardized by DPY19L2 deletion in these couples.
圆头无顶体精子症的特征是精液中 100%存在无头圆顶精子。圆头无顶体精子症夫妇进行卵胞浆内单精子注射（ICSI）后常报告受精失败，可通过人工卵母细胞激活（AOA）克服。PLCζ 是参与卵母细胞激活的主要精子因子之一，其低表达水平主要导致受精失败。DPY19L2 基因缺失被报道为超过 70%的圆头无顶体精子症男性的主要遗传原因。本研究评估了 32 名 DPY19L2 缺失介导的圆头无顶体精子症男性精子 PLCζ 在 RNA 和蛋白质水平上的表达谱，并报告了 AOA 辅助 ICSI 后的相应临床结局。与正常生育男性（n=32）相比，DPY19L2 缺失的圆头无顶体精子症男性的 PLCζ 在 RNA（0.78±0.16 与 1.65±0.24；P=0.02）和蛋白质（0.39±0.12 与 0.83±0.13；P=0.01）水平上的表达显著降低。与正常生育男性相比，DPY19L2 缺失的圆头无顶体精子症夫妇接受 ICSI-AOA 后的受精率显著降低（53.14±5.13%与 87.64±2.38%，P<0.001）。然而，在这些夫妇中，植入（26.2%）和妊娠（53.8%）率并未因 DPY19L2 缺失而受到威胁。
