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
Email	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

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Factors:

Subject type: Human; Subject species: Homo sapiens (Factor headings shown in green)

mb_sample_id	local_sample_id	Condition
SA094385	H42-C	Control
SA094386	H8-C	Control
SA094387	H29-C	Control
SA094388	H28-C	Control
SA094389	H15-C	Control
SA094390	H21-C	Control
SA094391	H22-C	Control
SA094392	H27-C	Control
SA094393	H32-I	Type I
SA094394	H26-I	Type I
SA094395	H40-I	Type I
SA094396	H23-I	Type I
SA094397	H3-I	Type I
SA094398	H12-I	Type I
SA094399	H20-I	Type I
SA094400	H43-II	Type II
SA094401	H35-II	Type II
SA094402	H36-II	Type II
SA094403	H33-II	Type II
SA094404	H24-II	Type II
SA094405	H30-II	Type II
SA094406	H31-II	Type II
SA094407	H44-III	Type III
SA094408	H41-III	Type III
SA094409	H37-III	Type III
SA094410	H14-III	Type III
SA094411	H38-III	Type III
SA094412	H39-III	Type III

Showing results 1 to 28 of 28

Showing results 1 to 28 of 28