Decreased expression of genes associated with memory and x-linked mental retardation in boys with non-syndromic cryptorchidism and high infertility risk

F Hadziselimovic; N O Hadziselimovic; P Demougin; E J Oakeley

doi:10.1159/000357931

Decreased expression of genes associated with memory and x-linked mental retardation in boys with non-syndromic cryptorchidism and high infertility risk

Mol Syndromol. 2014 Feb;5(2):76-80. doi: 10.1159/000357931. Epub 2014 Jan 29.

Authors

F Hadziselimovic¹, N O Hadziselimovic², P Demougin³, E J Oakeley⁴

Affiliations

¹ Institute of Andrology, Liestal, University of Basel, Basel, Switzerland.
² Institute of Andrology, Liestal, University of Basel, Basel, Switzerland ; Division of Molecular Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland.
³ Department of Molecular Biology, Biozentrum, Novartis Institutes for Biomedical Research, Basel, Switzerland.
⁴ Department of Molecular Biology, Novartis Institutes for Biomedical Research, Basel, Switzerland.

Abstract

An elevated odds ratio for low IQ has been found for cryptorchid boys. Furthermore, poor school performance has been observed in cryptorchid boys with impaired mini-puberty. Gene expression analysis, qPCR and immunohistology were performed on testicular biopsies from 7 boys who underwent orchiopexy and had testicular histology typical of a high risk of infertility (HIR). The results were compared with 12 biopsies from cryptorchid boys with a low risk for developing infertility. The following genes associated with mental retardation were identically expressed: GDI1, OPHN1, PAK3, ARHGEF6, IL1RAPL, ACSL4, MECP2, RPS6KA3, ARX, and ATRX. However, boys in the HIR group had low or no expression of EGR4, FMR2 (AFF2) and VCX3A. In conclusion, impaired expression of genes known to encode proteins involved in signaling pathways that regulate cytoskeletal organization, synaptic vesicle transport and the establishment of connections between neuronal cells may contribute to reduced intellectual and cognitive functioning in infertile cryptorchid males.

Keywords: Cryptorchidism; Gene expression; Infertility; Memory; Mental retardation; Mini-puberty.