Open AccessLDOC1 Gene Expression in Men With Klinefelter Syndrome
Author(s) -
Salemi Michele,
Condorelli Rosita A.,
Longo Giusi,
Bullara Valentina,
Romano Carmelo,
Campagna Cristina,
Bosco Paolo,
Vignera Sandro,
Calogero Aldo E.
Publication year - 2016
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.21870
Subject(s) - klinefelter syndrome , transcription factor , gene , spermatogenesis , azoospermia , gene expression , biology , apoptosis , downregulation and upregulation , regulation of gene expression , microbiology and biotechnology , cancer research , medicine , endocrinology , genetics , infertility , pregnancy
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.