Morphological and molecular characterisation of Twitcher mouse spermatogenesis: an update
Erica Puggioni A , Laura Governini A , Martina Gori A , Giuseppe Belmonte B , Paola Piomboni A , Elvira Costantino-Ceccarini A and Alice Luddi A C
+ Author Affiliations
- Author Affiliations
A Department of Molecular and Developmental Medicine, University of Siena, Viale Bracci, 53100 Siena, Italy.
B Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci, 53100 Siena, Italy.
C Corresponding author. Email: luddi@unisi.it
Reproduction, Fertility and Development 28(9) 1258-1267 https://doi.org/10.1071/RD14279
Submitted: 31 July 2014 Accepted: 27 December 2014 Published: 10 February 2015
Abstract
Spermatogenesis is a complex developmental program in which interactions between different cell types are finely regulated. Mouse models in which any of the sperm maturation steps are perturbed provide major insights into the molecular control of spermatogenesis. The Twitcher mouse is a model of Krabbe disease, characterised by the deficiency of galactosylceramidase, the enzyme that hydrolyses galactosylceramide and galactosylsphingosine. Galactosyl-alkyl-acyl-glycerol, a precursor of seminolipid, the most abundant glycolipid in spermatozoa, is also a substrate for galactosylceramidase. Altered sphingolipid metabolism has been suggested to be the cause of the morphological abnormalities reported previously in the spermatogenesis of Twitcher. However, given the frequency of infertility associated with neurological impairment, we hypothesised that an unbalanced hormonal profile could contribute to male infertility in this mutant. In order to clarify this issue, we investigated potential variations in the expression of hormones and hormone receptors involved in the regulation of spermatogenesis. Our data show that, in the brain of Twitcher mouse, gonadotrophin-releasing hormone (GnRH), LH and FSH gene expression is decreased, whereas expression of androgen receptor (AR) and inhibin βA (INHβA) is increased. The changes in gene expression for the LH and FSH receptors and AR in the testes support the hypothesis that altered sphingolipid metabolism is not the only cause of Twitcher infertility.
Additional keywords: gene expression, Krabbe disease.
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