Decreased Expression of Genes Associated with Memory and X-Linked Mental Retardation in Boys with Non-Syndromic Cryptorchidism and High Infertility Risk

Autor:	F. Hadziselimovic, N.O. Hadziselimovic, P. Demougin, Edward J. Oakeley
Rok vydání:	2014
Předmět:	Infertility medicine.medical_specialty business.industry medicine.medical_treatment Short Report Odds ratio medicine.disease ACSL4 MECP2 RPS6KA3 Endocrinology Internal medicine Genetics medicine Synaptic vesicle transport Orchiopexy business Genetics (clinical) ATRX
Zdroj:	Molecular Syndromology. 5:76-80
ISSN:	1661-8777 1661-8769
DOI:	10.1159/000357931
Popis:	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.
Databáze:	OpenAIRE
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