title: LDOC1 Gene Expression in Men With Klinefelter Syndrome.
abstract: 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.
authors.affiliation: Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy. micezia@tiscali.it, msalemi@oasi.en.it.
authors.forename: Michele
authors.initials: M
authors.lastname: Salemi
authors.affiliation: Section of Endocrinology,Andrology and Internal Medicine, Department of Medical and Pediatric Sciences, University of Catania, Catania, Italy.
authors.forename: Rosita A
authors.initials: RA
authors.lastname: Condorelli
authors.affiliation: Laboratory Analysis, A.O.V. "Policlinico V. Emanuele", Presidio "Gaspare Rodolico" University of Catania, Catania, Italy.
authors.forename: Giusi
authors.initials: G
authors.lastname: Longo
authors.affiliation: Section of Endocrinology,Andrology and Internal Medicine, Department of Medical and Pediatric Sciences, University of Catania, Catania, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Bullara
authors.affiliation: Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Romano
authors.affiliation: Section of Endocrinology,Andrology and Internal Medicine, Department of Medical and Pediatric Sciences, University of Catania, Catania, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Campagna
authors.affiliation: Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Bosco
authors.affiliation: Section of Endocrinology,Andrology and Internal Medicine, Department of Medical and Pediatric Sciences, University of Catania, Catania, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: La Vignera
authors.affiliation: Section of Endocrinology,Andrology and Internal Medicine, Department of Medical and Pediatric Sciences, University of Catania, Catania, Italy.
authors.forename: Aldo E
authors.initials: AE
authors.lastname: Calogero
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000378:metabolism*; D007962:Leukocytes / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism*; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism; D015854:Up-Regulation / Q000235:genetics*; D055815:Young Adult
chemical_list: C120625:LDOC1 protein, human; D009687:Nuclear Proteins; D012333:RNA, Messenger; D025521:Tumor Suppressor Proteins
keywords: Klinefelter syndrome; LDOC1 gene; apoptosis; azoospermia; qRT-PCR