Male mice with deleted Wolframin (Wfs1) gene have reduced fertility

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BioMed Central

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Male mice with deleted Wolframin (Wfs1) gene have reduced fertility Klari Noormets*1, Sulev Kõks2,3, Ants Kavak3, Andres Arend4, Marina Aunapuu4, Aivi Keldrimaa1, Eero Vasar2 and Vallo Tillmann1 Address: 1Department of Paediatrics, University of Tartu, 6 Lunini Street, 51014 Tartu, Estonia, 2Department of Physiology, University of Tartu, 19 Ravila Street, 50411 Tartu, Estonia, 3Institute of Veterinary Medicine and Animal Sciences, Estonian University of Life Sciences, 62 Kreutzwaldi Street, 51014 Tartu, Estonia and 4Department of Anatomy, Chair of Histology and Embryology, University of Tartu, 19 Ravila Street, 50411 Tartu, Estonia Email: Klari Noormets* - [email protected]; Sulev Kõks - [email protected]; Ants Kavak - [email protected]; Andres Arend - [email protected]; Marina Aunapuu - [email protected]; Aivi Keldrimaa - [email protected]; Eero Vasar - [email protected]; Vallo Tillmann - [email protected] * Corresponding author

Published: 10 August 2009 Reproductive Biology and Endocrinology 2009, 7:82

doi:10.1186/1477-7827-7-82

Received: 19 March 2009 Accepted: 10 August 2009

This article is available from: http://www.rbej.com/content/7/1/82 © 2009 Noormets et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract Background: Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by nonautoimmune diabetes mellitus, optic atrophy, cranial diabetes insipidus and sensorineural deafness. Some reports have described hypogonadism in male WS patients. The aim of our study was to find out whether Wfs1 deficient (Wfs1KO) male mice have reduced fertility and, if so, to examine possible causes. Methods: Wfs1KO mice were generated by homologous recombination. Both Wfs1KO and wild type (wt) male mice were mated with wt female mice. The number of litters and the number of pups were counted and pregnancy rates calculated. The motility and morphology of the sperm and the histology of testes were analysed. Serum testosterone and FSH concentrations were also measured. Results: The pregnancy rate in wt females mated with Wfs1KO males was significantly lower than in the control group (15% vs. 32%; p < 0.05), but there was no significant difference in litter size. Analysis of male fertility showed that, in the Wfs1KO group, eight males out of 13 had pups whereas in the control group all 13 males had at least one litter. Sperm motility was not affected in Wfs1KO mice, but Wfs1KO males had less proximal bent tails (14.4 +/- 1.2% vs. 21.5 +/- 1.3 p < 0.05) and less abnormal sperm heads (22.8 +/- 1.8 vs. 31.5 +/- 3.5, p < 0.05) than wt males. Testes histology revealed significantly reduced number of spermatogonia (23.9 +/- 4.9 vs. 38.1 +/- 2.8; p < 0.05) and Sertoli cells (6.4 +/- 0.5 vs. 9.2 +/- 1.0; p