Summary of Study ST002563

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench,, 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.


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.

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Study IDST002563
Study TitleMetabolomic profiling of PMM2-CDG after siRNA mediated KD of AKR1b1
Study SummaryAbnormal 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. Ssing tracer glucose studies, we demonstrate that AR inhibition diverts glucose flux away from polyol production towards the synthesis of sugar nucleotides.
Mayo Clinic
Last NameRadenkovic
First NameSilvia
Address200 2nd Ave SW Rochester MN, USA
Phone507(77) 6-6107
Submit Date2023-04-15
Raw Data AvailableYes
Raw Data File Type(s)mzML
Analysis Type DetailLC-MS
Release Date2023-07-18
Release Version1
Silvia Radenkovic Silvia Radenkovic application/zip

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

mb_sample_id local_sample_id Genotype Treatment
SA257831MCF000887_SR12PMM2-CDG 5.5mM 12C Glc negative siRNA
SA257832MCF0000858_SR14PMM2-CDG 5.5mM 12C Glc negative siRNA
SA257833MCF000887_SR04PMM2-CDG 5.5mM 12C Glc negative siRNA
SA257834MCF000887_SR03PMM2-CDG 5.5mM 12C Glc negative siRNA
SA257835MCF000887_SR11PMM2-CDG 5.5mM 12C Glc negative siRNA
SA257836MCF0000858_SR02PMM2-CDG 5.5mM 12C Glc negative siRNA
SA257837MCF0000858_SR18PMM2-CDG 5.5mM 12C Glc siRNA
SA257838MCF0000858_SR06PMM2-CDG 5.5mM 12C Glc siRNA
SA257839MCF000887_SR07PMM2-CDG 5.5mM 12C Glc siRNA
SA257840MCF0000858_SR17PMM2-CDG 5.5mM 12C Glc siRNA
SA257841MCF000887_SR08PMM2-CDG 5.5mM 12C Glc siRNA
SA257842MCF000887_SR15PMM2-CDG 5.5mM 12C Glc siRNA
SA257843MCF000887_SR16PMM2-CDG 5.5mM 12C Glc siRNA
SA257844MCF0000858_SR05PMM2-CDG 5.5mM 12C Glc siRNA
SA257845MCF000867_SR02PMM2-CDG 5.5mM 12C Glc  negative siRNA
SA257846MCF000867_SR18PMM2-CDG 5.5mM 12C Glc  negative siRNA
SA257847MCF000867_SR20PMM2-CDG 5.5mM 12C Glc  negative siRNA
SA257848MCF000867_SR04PMM2-CDG 5.5mM 12C Glc  negative siRNA
SA257849MCF000867_SR08PMM2-CDG 5.5mM 12C Glc  siRNA
SA257850MCF000867_SR24PMM2-CDG 5.5mM 12C Glc  siRNA
SA257851MCF000867_SR07PMM2-CDG 5.5mM 12C Glc  siRNA
SA257852MCF000867_SR23PMM2-CDG 5.5mM 12C Glc  siRNA
SA257853MCF0000858_SR13PMM2-CDG 5.5mM 13C Glc negative siRNA
SA257854MCF000887_SR09PMM2-CDG 5.5mM 13C Glc negative siRNA
SA257855MCF0000858_SR01PMM2-CDG 5.5mM 13C Glc negative siRNA
SA257856MCF000887_SR10PMM2-CDG 5.5mM 13C Glc negative siRNA
SA257857MCF000887_SR02PMM2-CDG 5.5mM 13C Glc negative siRNA
SA257858MCF000887_SR01PMM2-CDG 5.5mM 13C Glc negative siRNA
SA257859MCF000887_SR05PMM2-CDG 5.5mM 13C Glc siRNA
SA257860MCF0000858_SR15PMM2-CDG 5.5mM 13C Glc siRNA
SA257861MCF0000858_SR04PMM2-CDG 5.5mM 13C Glc siRNA
SA257862MCF0000858_SR16PMM2-CDG 5.5mM 13C Glc siRNA
SA257863MCF000887_SR13PMM2-CDG 5.5mM 13C Glc siRNA
SA257864MCF000887_SR06PMM2-CDG 5.5mM 13C Glc siRNA
SA257865MCF000887_SR14PMM2-CDG 5.5mM 13C Glc siRNA
SA257866MCF0000858_SR03PMM2-CDG 5.5mM 13C Glc siRNA
SA257867MCF000867_SR19PMM2-CDG 5.5mM 13C Glc  negative siRNA
SA257868MCF000867_SR17PMM2-CDG 5.5mM 13C Glc  negative siRNA
SA257869MCF000867_SR01PMM2-CDG 5.5mM 13C Glc  negative siRNA
SA257870MCF000867_SR03PMM2-CDG 5.5mM 13C Glc  negative siRNA
SA257871MCF000867_SR06PMM2-CDG 5.5mM 13C Glc  siRNA
SA257872MCF000867_SR05PMM2-CDG 5.5mM 13C Glc  siRNA
SA257873MCF000867_SR21PMM2-CDG 5.5mM 13C Glc  siRNA
SA257874MCF000867_SR22PMM2-CDG 5.5mM 13C Glc  siRNA
SA257875MCF000887_SR28WT 5.5mM 12C Glc negative siRNA
SA257876MCF0000858_SR08WT 5.5mM 12C Glc negative siRNA
SA257877MCF000887_SR27WT 5.5mM 12C Glc negative siRNA
SA257878MCF000887_SR20WT 5.5mM 12C Glc negative siRNA
SA257879MCF0000858_SR20WT 5.5mM 12C Glc negative siRNA
SA257880MCF000887_SR19WT 5.5mM 12C Glc negative siRNA
SA257881MCF0000858_SR11WT 5.5mM 12C Glc siRNA
SA257882MCF000887_SR23WT 5.5mM 12C Glc siRNA
SA257883MCF000887_SR32WT 5.5mM 12C Glc siRNA
SA257884MCF000887_SR31WT 5.5mM 12C Glc siRNA
SA257885MCF000887_SR24WT 5.5mM 12C Glc siRNA
SA257886MCF0000858_SR12WT 5.5mM 12C Glc siRNA
SA257887MCF0000858_SR24WT 5.5mM 12C Glc siRNA
SA257888MCF0000858_SR23WT 5.5mM 12C Glc siRNA
SA257889MCF000867_SR12WT 5.5mM 12C Glc  negative siRNA
SA257890MCF000867_SR10WT 5.5mM 12C Glc  negative siRNA
SA257891MCF000867_SR16WT 5.5mM 12C Glc  siRNA
SA257892MCF000867_SR15WT 5.5mM 12C Glc  siRNA
SA257893MCF0000858_SR19WT 5.5mM 13C Glc negative siRNA
SA257894MCF000887_SR26WT 5.5mM 13C Glc negative siRNA
SA257895MCF000887_SR17WT 5.5mM 13C Glc negative siRNA
SA257896MCF0000858_SR07WT 5.5mM 13C Glc negative siRNA
SA257897MCF000887_SR18WT 5.5mM 13C Glc negative siRNA
SA257898MCF000887_SR25WT 5.5mM 13C Glc negative siRNA
SA257899MCF000887_SR29WT 5.5mM 13C Glc siRNA
SA257900MCF000887_SR30WT 5.5mM 13C Glc siRNA
SA257901MCF000887_SR21WT 5.5mM 13C Glc siRNA
SA257902MCF0000858_SR10WT 5.5mM 13C Glc siRNA
SA257903MCF0000858_SR22WT 5.5mM 13C Glc siRNA
SA257904MCF0000858_SR21WT 5.5mM 13C Glc siRNA
SA257905MCF000887_SR22WT 5.5mM 13C Glc siRNA
SA257906MCF0000858_SR09WT 5.5mM 13C Glc siRNA
SA257907MCF000867_SR09WT 5.5mM 13C Glc  negative siRNA
SA257908MCF000867_SR11WT 5.5mM 13C Glc  negative siRNA
SA257909MCF000867_SR13WT 5.5mM 13C Glc  siRNA
SA257910MCF000867_SR14WT 5.5mM 13C Glc  siRNA
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