A proteomic analysis of changes in prothrombin and plasma proteins associated with the G20210A mutation.

The G-->A mutation at position 20210 of the prothrombin gene, localized in the 3'-polyadenylation untranslated region of the mRNA, is a recognized genetic risk factor for venous thromboembolism. The mechanism by which this base change confers an increased risk of thrombosis compared to n...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Gelfi, C, Viganò, A, Ripamonti, M, Wait, R, Begum, S, Biguzzi, E, Castaman, G, Faioni, E
Μορφή: Journal article
Γλώσσα:English
Έκδοση: 2004
_version_ 1826276456993390592
author Gelfi, C
Viganò, A
Ripamonti, M
Wait, R
Begum, S
Biguzzi, E
Castaman, G
Faioni, E
author_facet Gelfi, C
Viganò, A
Ripamonti, M
Wait, R
Begum, S
Biguzzi, E
Castaman, G
Faioni, E
author_sort Gelfi, C
collection OXFORD
description The G-->A mutation at position 20210 of the prothrombin gene, localized in the 3'-polyadenylation untranslated region of the mRNA, is a recognized genetic risk factor for venous thromboembolism. The mechanism by which this base change confers an increased risk of thrombosis compared to noncarriers is undefined. Studies on the mRNA suggest enhanced cleavage site recognition and a change in the location of the 3'-cleavage/polyadenylation reaction, but no defined model has been proposed. The present study, based on proteomic investigation by two-dimensional gel electrophoresis and electrospray ionization (ESI) tandem mass spectrometry (MS/MS) protein identification, suggests that the G20210A mutation is associated with increased glycosylation of prothrombin, which confers greater stability to the protein. Additionally, proteomic investigation of pooled plasma showed that expression levels of six spots, three of them identified by ESI MS/MS, were altered in subjects carrying the mutation, suggesting a possible cooperative effect in the thrombotic risk increment induced by the mutation.
first_indexed 2024-03-06T23:14:14Z
format Journal article
id oxford-uuid:668d65bd-6d50-469e-b569-9b7e94b36f06
institution University of Oxford
language English
last_indexed 2024-03-06T23:14:14Z
publishDate 2004
record_format dspace
spelling oxford-uuid:668d65bd-6d50-469e-b569-9b7e94b36f062022-03-26T18:32:39ZA proteomic analysis of changes in prothrombin and plasma proteins associated with the G20210A mutation.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:668d65bd-6d50-469e-b569-9b7e94b36f06EnglishSymplectic Elements at Oxford2004Gelfi, CViganò, ARipamonti, MWait, RBegum, SBiguzzi, ECastaman, GFaioni, EThe G-->A mutation at position 20210 of the prothrombin gene, localized in the 3'-polyadenylation untranslated region of the mRNA, is a recognized genetic risk factor for venous thromboembolism. The mechanism by which this base change confers an increased risk of thrombosis compared to noncarriers is undefined. Studies on the mRNA suggest enhanced cleavage site recognition and a change in the location of the 3'-cleavage/polyadenylation reaction, but no defined model has been proposed. The present study, based on proteomic investigation by two-dimensional gel electrophoresis and electrospray ionization (ESI) tandem mass spectrometry (MS/MS) protein identification, suggests that the G20210A mutation is associated with increased glycosylation of prothrombin, which confers greater stability to the protein. Additionally, proteomic investigation of pooled plasma showed that expression levels of six spots, three of them identified by ESI MS/MS, were altered in subjects carrying the mutation, suggesting a possible cooperative effect in the thrombotic risk increment induced by the mutation.
spellingShingle Gelfi, C
Viganò, A
Ripamonti, M
Wait, R
Begum, S
Biguzzi, E
Castaman, G
Faioni, E
A proteomic analysis of changes in prothrombin and plasma proteins associated with the G20210A mutation.
title A proteomic analysis of changes in prothrombin and plasma proteins associated with the G20210A mutation.
title_full A proteomic analysis of changes in prothrombin and plasma proteins associated with the G20210A mutation.
title_fullStr A proteomic analysis of changes in prothrombin and plasma proteins associated with the G20210A mutation.
title_full_unstemmed A proteomic analysis of changes in prothrombin and plasma proteins associated with the G20210A mutation.
title_short A proteomic analysis of changes in prothrombin and plasma proteins associated with the G20210A mutation.
title_sort proteomic analysis of changes in prothrombin and plasma proteins associated with the g20210a mutation
work_keys_str_mv AT gelfic aproteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT viganoa aproteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT ripamontim aproteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT waitr aproteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT begums aproteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT biguzzie aproteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT castamang aproteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT faionie aproteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT gelfic proteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT viganoa proteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT ripamontim proteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT waitr proteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT begums proteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT biguzzie proteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT castamang proteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation
AT faionie proteomicanalysisofchangesinprothrombinandplasmaproteinsassociatedwiththeg20210amutation