• PMID: 29339016
• Gene Name: DPY19L2
• Condition: Globozoospermia
• Association: Associated
• Mutation: 32 DPY19L2 deletion
• Sex: Male
• Infertility type: Male infertility

Expression of sperm PLC? and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion

Tavalaee M, Nomikos M, Lai FA, Nasr-Esfahani MH.

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. CI - Copyright © 2017 Reproductive Healthcare Ltd. All rights reserved. FAU - Tavalaee, Marziyeh AU - Tavalaee M AD - Department of Reproductive Biotechnology, Reproductive Biomedicine Research Centre, Royan Institute for Biotechnology, ACECR, Isfahan, Iran. FAU - Nomikos, Michail AU - Nomikos M AD - College of Medicine, Member of QU Health, Qatar University, PO Box 2713, Doha, Qatar. FAU - Lai, F Anthony AU - Lai FA AD - College of Medicine, Member of QU Health, Qatar University, PO Box 2713, Doha, Qatar; College of Biomedical and Life Sciences, School of Biosciences, Cardiff University, Cardiff, UK.