title: Expression of STRBP mRNA in patients with cryptorchidism and Down's syndrome.
abstract: The most frequent defect of the male urogenital tract at birth is cryptorchidism. Cryptorchidism causes primitive testicular pathology responsible for infertility. Men with Down's syndrome (DS) have an increased risk of cryptorchidism. The spermatid perinuclear RNA-binding protein (STRBP) gene codifies a microtubule-associated RNA-binding protein and it is highly expressed in the testis as well as in the brain. At both levels, this gene seems to play a relevant role in the regular development of these organs. These observations prompted us to evaluate the expression of STRBP mRNA in 5 DS men with cryptorchidism and 5 normal healthy men (controls) by quantitative Real Time PCR in peripheral blood leukocytes. We found a decreased expression of the STRBP gene in men with DS and cryptorchidism compared with controls. This finding suggests that the impaired expression of this gene in DS may play a pathogenetic role in the altered brain and testicular development in subjects with DS and cryptorchidism.
authors.affiliation: Laboratory of Cytogenetics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina (EN), Italy.
authors.forename: M
authors.initials: M
authors.lastname: Salemi
authors.forename: S
authors.initials: S
authors.lastname: La Vignera
authors.forename: R
authors.initials: R
authors.lastname: Castiglione
authors.forename: R A
authors.initials: RA
authors.lastname: Condorelli
authors.forename: L
authors.initials: L
authors.lastname: Cimino
authors.forename: P
authors.initials: P
authors.lastname: Bosco
authors.forename: C
authors.initials: C
authors.lastname: Romano
authors.forename: C
authors.initials: C
authors.lastname: Romano
authors.forename: A E
authors.initials: AE
authors.lastname: Calogero
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003456:Cryptorchidism / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D011379:Prognosis; D012333:RNA, Messenger / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013737:Testis / Q000378:metabolism*
chemical_list: D008869:Microtubule-Associated Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; C490551:STRBP protein, human