Search

Abstract Research question Can seminal plasma markers for oligoasthenozoospermia be identified by comparison of the human seminal plasma proteome in men with oligoasthenozoospermia and normozoospermia? Design An in-depth quantitative proteome analysis was conducted using a high-throughput method named isobaric tag for relative and absolute quantification. A total of 734 seminal plasma proteins were quantified by mass spectrometry. Results Compared with the seminal plasma from men with normozoospermia, 22 upregulated proteins and 20 downregulated proteins were identified in the oligoasthenozoospermic seminal plasma. These differential seminal plasma proteins were involved in various physiological processes, including metabolism, transport, antioxidation and immune response. The confidence of some proteome data was further verified by western blot of (prostate-specific antigen [KLK3], lactotransferrin [LTF], alpha-1-antitrypsin [SERPINA1] and glyceraldehyde-3-phosphate dehydrogenase [GAPDH]). Additionally, 38% of the seminal plasma proteins identified in this study have not been reported in previously published studies on seminal plasma proteome, and 53% of our seminal plasma proteins were shared with published studies on human plasma proteome. Conclusions Our seminal plasma proteome research provides new complementary high-confidence data, and also enhances understanding of the pathogenic mechanisms in oligoasthenozoospermia. [ABSTRACT FROM AUTHOR]

Insights into common genetic susceptibility between primary ovarian insufficiency (POI) and natural or early menopause have delivered an innovative way of assessing the genetic mechanisms involved in POI. PRIM1 plays a crucial role in DNA replication by synthesizing RNA primers for Okazaki fragments. It is closely associated with age at natural menopause, early menopause and POI in European women. In this study, we aimed to investigate whether mutations in PRIM1 contribute to POI in Chinese women. All exons and exon–intron boundaries of PRIM1 gene were sequenced in 192 Han Chinese women with non-syndromic POI. No plausible mutations were identified. The results suggest that the perturbations in PRIM1 gene are not a common explanation for POI in Chinese women. [ABSTRACT FROM AUTHOR]

HELQ , a member of DNA repair gene family, is an enzyme required for DNA strands cross-links repair and closely related to age at natural menopause. It also possesses a critical role in the germ cell maintenance, and loss of HELQ gene leads to subfertility. The aim of the present study was to investigate whether mutations in HELQ contribute to premature ovarian failure (POF) in Chinese women. A cohort of 192 patients with POF was enrolled. All exons and exon–intron boundaries of genomic DNA were amplified and sequenced. Six known single-nucleotide polymorphisms were identified in both POF and control groups, including rs1494961, rs13141136, rs7665103, rs11099600, rs2047210 and rs12645412. No mutation was identified. Our study indicates for the first time that mutations in the coding sequence of the HELQ gene may not be responsible for premature ovarian failure in Chinese Han population. [ABSTRACT FROM AUTHOR]