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dc.contributor.authorPiñeyro-Ruiz, Coriness
dc.contributor.authorSerrano, Horacio
dc.contributor.authorJorge, Inmaculada 
dc.contributor.authorMiranda-Valentin, Eric
dc.contributor.authorPérez-Brayfield, Marcos R
dc.contributor.authorCamafeita, Emilio 
dc.contributor.authorMesa, Raquel
dc.contributor.authorVazquez, Jesus 
dc.contributor.authorJorge, Juan Carlos
dc.identifier.citationFront Pediatr. 2020; 8:586287es_ES
dc.description.abstractBackground and Objective: Mild hypospadias is a birth congenital condition characterized by the relocation of the male urethral meatus from its typical anatomical position near the tip of the glans penis, to a lower ventral position up to the brim of the glans corona, which can also be accompanied by foreskin ventral deficiency. For the most part, a limited number of cases have known etiology. We have followed a high-throughput proteomics approach to study the proteome in mild hypospadias patients. Methods: Foreskin samples from patients with mild hypospadias were collected during urethroplasty, while control samples were collected during elective circumcision (n = 5/group). A high-throughput, quantitative proteomics approach based on multiplexed peptide stable isotope labeling (SIL) and liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis was used to ascertain protein abundance changes in hypospadias patients when compared to control samples. Results: A total of 4,815 proteins were quantitated (2,522 with at least two unique peptides). One hundred and thirty-three proteins from patients with mild hypospadias showed significant abundance changes with respect to control samples, where 38 proteins were increased, and 95 proteins were decreased. Unbiased functional biological analysis revealed that both mitochondrial energy production and apoptotic signaling pathways were enriched in mild hypospadias. Conclusions: This first comprehensive proteomics characterization of mild hypospadias shows molecular changes associated with essential cellular processes related to energy production and apoptosis. Further evaluation of the proteome may expand the search of novel candidates in the etiology of mild hypospadias and could also lead to the identification of biomarkers for this congenital urogenital condition.es_ES
dc.description.sponsorshipThis research was supported by the Research Initiative for Scientific Enhancement (MBRS-RISE) Program Award Number R25GM061838, by the National Institute on Minority Health and Health Disparities of the National Institutes of Health Award Number 8G12MD007600, by the Hispanic Alliance for Clinical and Translational Research of the National Institues of Health under award number 54GM133807-01A1, and by the Comprehensive Cancer Center of the UPR (a public corporation of the Government of Puerto Rico created in virtue of Law 230 of August 26, 2004, as amended). This study was also supported by competitive grants from the Spanish Ministry of Science, Innovation, and Universities (PGC2018-097019-B-I00), and the Carlos III Institute of Health-Fondo de Investigación Sanitaria grant PRB3 (IPT17/0019—ISCIII-SGEFI / ERDF, ProteoRed). The CNIC is supported by the Instituto de Salud Carlos III (ISCIII), the Ministerio de Ciencia, Innovación y Universidades (MCNU), and the Pro CNIC Foundation, and is a Severo Ochoa Center of Excellence (SEV-2015-0505). The content is entirely the responsibility of the authors and does not necessarily represent the official views of the NIH nor of the Comprehensive Cancer Center UPR. Infrastructure support was provided in part by the National Institute on Minority Health and Health Disparities RCMI Grant: U54MD007600 and the Comprehensive Cancer Center—Clinical Proteomics Laboratory and RCMI Proteomics CORE in San Juan, Puerto Rico, for research facilities and technical support.es_ES
dc.publisherFrontiers Mediaes_ES
dc.relation.isversionofPublisher's versiones_ES
dc.titleA Proteomics Signature of Mild Hypospadias: A Pilot Studyes_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.contributor.funderResearch Initiative for Scientific Enhancementes_ES
dc.contributor.funderNational Institutes of Health (United States)es_ES
dc.contributor.funderMinisterio de Ciencia, Innovación y Universidades (España)es_ES
dc.contributor.funderComprehensive Cancer Center (Puerto Rico)es_ES
dc.contributor.funderInstituto de Salud Carlos III - ISCIIIes_ES
dc.contributor.funderFundación ProCNICes_ES
dc.identifier.journalFrontiers in pediatricses_ES
dc.repisalud.orgCNICCNIC::Grupos de investigación::Proteómica cardiovasculares_ES
dc.repisalud.orgCNICCNIC::Unidades técnicas::Proteómica / Metabolómicaes_ES

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