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Klinefelter syndrome (KS) results from an extra chromosome X, which is due to the failure of normal chromosomal segregation during meiosis. Patients with KS have gynecomastia, small testes, and azoospermia. Apoptosis is a mechanism responsible for the normal regulation of spermatogenesis. LDOC1 gene is a known regulator of nuclear factor mediated pathway to apoptosis through inhibition of nuclear factor kappa B (NF-kappaB). Furthermore, the transcription factor myeloid zinc finger gene 1 (MZF-1) has been shown to interact with LDOC1 and to enhance LDOC1 activity favoring apoptosis. We investigated the expression of LDOC1 gene mRNA, by quantitative reverse transcription polymerase chain reaction (qRT-PCR), in peripheral blood leukocytes of 13 patients with KS compared to 13 healthy men chosen as controls. LDOC1 expression was higher in 9 of the 13 KS patient compared to normal controls. These finding led us to hypothesize that LDOC1 gene upregulation may play a role in the spermatogenesis derangement observed in patients with KS.

INTRODUCTION Alzheimer's disease (AD) is characterized by progression of memory problems to a slow global decline of cognitive function. Inflammation when left unregulated becomes a major cofactor in the pathogenesis of AD. PTGS2 is of crucial relevance in the inflammatory response, and it has been shown to play a considerable role in AD pathogenesis. MATERIAL AND METHODS To assess the possible putative role of a PTGS2 polymorphism (-765 G/C) in AD patients, we examined, by pyrosequencing, its distribution in 84 Sicilian AD patients and in 80 controls. RESULTS No significant statistical difference in PTGS2 -765 G/C genotype distribution was found comparing patients with AD and controls. In addition, no significant difference was observed in the distribution of the PTGS2 -765 alleles between AD patients and controls. CONCLUSIONS These findings suggest that the PTGS2 -765 G/C polymorphism may not be associated with AD in the Sicilian population.