title: Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.
abstract: Cryptorchidism represents a risk factor for infertility and germ cell testicular neoplasia. An increased rate of cryptorchidism has been reported in subjects with Down's syndrome. Cyclic nucleotide phosphodiesterases (PDEs) are important messengers that regulate and mediate a number of cellular responses to extracellular signals, such as neurotransmitters and hormones. PDE4B, cAMP-specific (PDE4B) gene which maps to chromosome 1p31.3 appears to be involved in schizophrenia, chronic psychiatric illness, learning, memory, and mood disturbances. Expression of PDE4 enzymes have been studied in testes of cryptorchid rats. Expression of PDE4B protein examination showed marked degenerative changes in the epithelial lining of the seminiferous tubules. These findings led us to evaluate PDE4 mRNA expression in leukocytes of peripheral blood of five men with DS and cryptorchidism and eleven subjects with DS without cryptorchidism compared with healthy men (controls) by quantitative Real Time PCR (qRT-PCR). This study showed that the PDE4B gene was downexpressed in men with DS and cryptorchidism compared to normal controls and DS without cryptorchidism. A lower expression of the PDE4B gene may be involved in the neurological abnormalities in subjects with Down's syndrome. Moreover, PDE4B gene may be involved in the testicular abnormalities of men with DS and cryptorchidism.
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy.
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: 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: Roberto
authors.initials: R
authors.lastname: Castiglione
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy.
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Salluzzo
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy.
authors.forename: Carmela M
authors.initials: CM
authors.lastname: Bonaccorso
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy.
authors.forename: Mirella
authors.initials: M
authors.lastname: Vinci
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Bosco
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, 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: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy.
authors.forename: Corrado
authors.identifier: http://orcid.org/0000-0003-1049-0683
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: Aldo E
authors.initials: AE
authors.lastname: Calogero
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003456:Cryptorchidism / Q000150:complications* / Q000201:enzymology* / Q000235:genetics; D000242:Cyclic AMP; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4 / Q000235:genetics / Q000378:metabolism; D004314:Down Syndrome / Q000150:complications* / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D008297:Male; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D000242:Cyclic AMP; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4; C517360:PDE4B protein, human
keywords: Down's syndrome; PDE4B gene; cryptorchidism; mRNA expression; qRT-PCR