Summary of Study ST002575
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 PR001653. The data can be accessed directly via it's Project DOI: 10.21228/M81Q6Q This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.
| Study ID | ST002575 |
| Study Title | Metabolomic profiling of PMM2-CDG patient fibroblasts by GC/MS |
| Study Summary | Abnormal polyol metabolism has been predominantly associated with diabetes, where excess glucose is converted to sorbitol by aldose reductase (AR). Recently, abnormal polyol metabolism has also been implicated in phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG), and epalrestat, an AR inhibitor, proposed as a potential therapy for this disorder. Given that the PMM enzyme is not closely connected to polyol metabolism, and, unlike in diabetes, PMM2-CDG does not present with hyperglycemia in blood, the increased polyol production, and the therapeutic mechanism of epalrestat in PMM2-CDG remained largely elusive. PMM2-CDG is caused by deficiency of the PMM enzyme and results in a depletion of mannose-1-P and guanosine diphosphate mannose (GDP-mannose), which is essential for glycosylation. Here, we show that apart from glycosylation abnormalities, PMM2 deficiency also leads to changes in intracellular glucose flux, which results in an increase in intracellular polyols such as sorbitol and mannitol. |
| Institute | Mayo Clinic |
| Last Name | Radenkovic |
| First Name | Silvia |
| Address | 200 2nd Ave SW Rochester MN, USA |
| radenkovic.silvia@mayo.edu | |
| Phone | 507(77) 6-6107 |
| Submit Date | 2023-04-21 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | mzML |
| Analysis Type Detail | GC-MS |
| Release Date | 2023-07-18 |
| Release Version | 1 |
Select appropriate tab below to view additional metadata details:
Combined analysis:
| Analysis ID | AN004240 |
|---|---|
| Analysis type | MS |
| Chromatography type | GC |
| Chromatography system | Agilent 7890A |
| Column | Agilent HP-5ms (30m x 0.25mm, 0.25um) |
| MS Type | EI |
| MS instrument type | Triple quadrupole |
| MS instrument name | Agilent 7000B |
| Ion Mode | NEGATIVE |
| Units | AUC |
MS:
| MS ID: | MS003987 |
| Analysis ID: | AN004240 |
| Instrument Name: | Agilent 7000B |
| Instrument Type: | Triple quadrupole |
| MS Type: | EI |
| MS Comments: | Mass Hunter Workstation software with the Quantitative Analysis Version B.06.00/Build 6.0.388.0 Specific metabolites were identified based on their fragment formula (SIM)/elution time |
| Ion Mode: | NEGATIVE |
