Summary of Study ST001306
This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR000887. The data can be accessed directly via it's Project DOI: 10.21228/M81M59 This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Study ID | ST001306 |
| Study Title | Biomolecular analyses of hypospadias according to severity |
| Study Summary | Hypospadias, characterized by the displacement of the opening of the urethra at any point in the medial-ventral side of the penis, is classified upon severity as mild (Type I) and severe (Type II and Type III) hypospadias. Hypospadias’ etiology is idiopathic in the majority of cases, and underlying causes seem of multifactorial origin. Studies regarding genetic variants support this notion. It is unknown whether downstream gene products fit this profile. This study evaluated the metabolome of hypospadias by using the emerging technology of metabolomics in the search for distinct cellular processes associated with hypospadias’ etiology according to the severity of this congenital urogenital condition. Foreskin samples were collected during urethroplasty from boys with Type I, II, and III hypospadias or undergoing elective circumcision (N=28) between 5 to 28 months of age. Samples were processed and submitted to gas chromatography-mass spectrometry (GC/MS). MetaboloAnalyst (http://www.metaboanalyst.ca/) online platform was used for bioinformatic analyses. The metabolome of Type II and Type III hypospadias patients differs from the metabolome of Type I hypospadias and control patients. Thirty-five metabolites were identified by GC/MS. Of those, 14 metabolites, amino acids, were found in significantly low concentrations in Type II and Type III hypospadias in comparison to Type I hypospadias and controls. Amino acids comprised asparagine, aspartate, glutamate, glycine, histidine, isoleucine, leucine, lysine, methionine, phenylalanine, proline, serine, threonine, and tyrosine. The difference observed in the metabolome between severe and mild hypospadias supports previous research work of plausible severity-dependent etiologies for hypospadias. The observed downregulation of specific amino acids in severe hypospadias provides alternative routes for future research aiming to identify disrupted networks and pathways while considering the severity of hypospadias. |
| Institute | University of Puerto Rico, Medical Sciences Campus |
| Department | Anatomy & Neurobiology |
| Last Name | Piñeyro-Ruiz |
| First Name | Coriness |
| Address | University of Puerto Rico, Medical Sciences Campus, Department of Anatomy & Neurobiology, Main Building, 5th Floor, Room A-521 PO BOX 365067 San Juan, PR 00936-5067 |
| coriness.pineyro@upr.edu | |
| Phone | 7877582525 |
| Submit Date | 2020-01-17 |
| Num Groups | 4 |
| Total Subjects | 28 |
| Num Males | 28 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | gqd |
| Analysis Type Detail | GC-MS |
| Release Date | 2020-03-03 |
| Release Version | 1 |
Select appropriate tab below to view additional metadata details:
Subject:
| Subject ID: | SU001380 |
| Subject Type: | Human |
| Subject Species: | Homo sapiens |
| Taxonomy ID: | 9606 |
| Age Or Age Range: | 5-28 months |
| Gender: | Male |
| Human Ethnicity: | Hispanic |
| Human Inclusion Criteria: | (1) boys diagnosed with hypospadias with no comorbidities; (2) children undergoing elective circumcision without a clinical diagnosis; (3) age must be between 0 to 28 months; (4) parents' authorization and sign inform consent |
| Human Exclusion Criteria: | (1) being unable to understand spoken and written language in Spanish; (2) not being willing to provide authorization for collection of tissue sample during the surgical repair of hypospadias and circumcision procedure |
