2026-04-29T04:09:43Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/128982024-10-31T11:41:17Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Piñeyro-Ruiz, Coriness
author
Serrano, Horacio
author
Jorge, Inmaculada
author
Miranda-Valentin, Eric
author
Pérez-Brayfield, Marcos R
author
Camafeita, Emilio
author
Mesa, Raquel
author
Vazquez, Jesus
author
Jorge, Juan Carlos
funder
Research Initiative for Scientific Enhancement
funder
National Institutes of Health (Estados Unidos)
funder
Ministerio de Ciencia, Innovación y Universidades (España)
funder
Comprehensive Cancer Center (Puerto Rico)
funder
Instituto de Salud Carlos III
funder
Fundación ProCNIC
2021-05-07T09:54:35Z
2021-05-07T09:54:35Z
2020-12
Front Pediatr. 2020; 8:586287
2296-2360
http://hdl.handle.net/20.500.12105/12898
33425810
10.3389/fped.2020.586287
Frontiers in pediatrics
Background 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.
eng
A Proteomics Signature of Mild Hypospadias: A Pilot Study
journal article
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