• PMID: 25359468
• Gene Name: TARDBP
• Condition: Male factor infertility
• Association: Associated
• Population size: 109
• Population details: 109 (11 fertile, 98 subfertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male factor infertility

Aberrant expression of TAR DNA binding protein-43 is associated with spermatogenic disorders in men

Varghese DS, Chandran U, Soumya A, Pillai SM, Jayakrishnan K, Reddi PP, Kumar PG.

Loss of function of TAR DNA-binding protein (TDP-43) has been implicated in neurodegenerative disorders in both humans and animal models. TDP-43 has also been shown to be cis-acting transcriptional repressor of the acrosome vesicle (Acrv) gene in mice. In the present study, we investigated the expression of the TDP-43 transcript (TARDBP) and protein in germ cells from 11 fertile and 98 subfertile men to verify its potential association with poor seminograms. The expression profile of TDP-43 was characterised in immature germ cells and spermatozoa from semen from fertile and subfertile men using reverse transcription-polymerase chain reaction, western blotting and immunofluorescence. Although germ cells from subfertile men tested negative for TARDBP, the full-length message of the same was detected in fertile men. TDP-43 was detected in spermatozoa from fertile men using western blot analysis and immunofluorescence. The expression of this protein was negligible in spermatozoa from men with primary spermatogenic dysfunction. We conclude that a deficiency in the TDP-43 expression is associated with defective spermatogenesis and male infertility. We propose that TDP-43 could be used as a marker of male factor infertility. FAU - Varghese, Divya Saro AU - Varghese DS AD - Rajiv Gandhi Centre for Biotechnology, Thycaud PO, Poojappura, Thiruvananthapuram 695014, Kerala, India. FAU - Chandran, Uma AU - Chandran U AD - Rajiv Gandhi Centre for Biotechnology, Thycaud PO, Poojappura, Thiruvananthapuram 695014, Kerala, India. FAU - Soumya, Ambili AU - Soumya A AD - Rajiv Gandhi Centre for Biotechnology, Thycaud PO, Poojappura, Thiruvananthapuram 695014, Kerala, India. FAU - Pillai, Sathy M AU - Pillai SM AD - Samad IVF Hospital, Pattoor, Vanchiyoor Road, Thiruvananthapuram 695035, Kerala, India. FAU - Jayakrishnan, Krishnapillai AU - Jayakrishnan K AD - KJK Hospital, Nalanchira, Trivandrum 695015, Kerala, India. FAU - Reddi, Prabhakara P AU - Reddi PP AD - Department of Pathology, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA.