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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F11%3A8960%21RIV12-MZ0-00064165
rdf:type
skos:Concept n14:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1007/s10545-010-9178-3
dcterms:description
Cystathionine beta-synthase (CBS) deficiency is usually confirmed by assaying the enzyme activity in cultured skin fibroblasts. We investigated whether CBS is present in human plasma and whether determination of its activity in plasma could be used for diagnostic purposes. We developed an assay to measure CBS activity in 20 mu L of plasma using a stable isotope substrate - 2,3,3-(2)H serine. The activity was determined by measurement of the product of enzyme reaction, 3,3-(2)H-cystathionine, using LC-MS/MS. The median enzyme activity in control plasma samples was 404 nmol/h/L (range 66-1,066; n = 57). In pyridoxine nonresponsive CBS deficient patients, the median plasma activity was 0 nmol/ho/L (range 0-9; n = 26), while in pyridoxine responsive patients the median activity was 16 nmol/hour/L (range 0-358; n = 28); this overlapped with the enzyme activity from control subject. The presence of CBS in human plasma was confirmed by an in silico search of the proteome database, and was further evidenced by the activation of CBS by S-adenosyl-L-methionine and pyridoxal 5'-phosphate, and by configuration of the detected reaction product, 3,3-(2)H-cystathionine, which was in agreement with the previously observed CBS reaction mechanism. We hypothesize that the CBS enzyme in plasma originates from liver cells, as the plasma CBS activities in patients with elevated liver aminotransferase activities were more than 30-fold increased. In this study, we have demonstrated that CBS is present in human plasma and that its catalytic activity is detectable by LC-MS/MS. CBS assay in human plasma brings new possibilities in the diagnosis of pyridoxine nonresponsive CBS deficiency. Cystathionine beta-synthase (CBS) deficiency is usually confirmed by assaying the enzyme activity in cultured skin fibroblasts. We investigated whether CBS is present in human plasma and whether determination of its activity in plasma could be used for diagnostic purposes. We developed an assay to measure CBS activity in 20 mu L of plasma using a stable isotope substrate - 2,3,3-(2)H serine. The activity was determined by measurement of the product of enzyme reaction, 3,3-(2)H-cystathionine, using LC-MS/MS. The median enzyme activity in control plasma samples was 404 nmol/h/L (range 66-1,066; n = 57). In pyridoxine nonresponsive CBS deficient patients, the median plasma activity was 0 nmol/ho/L (range 0-9; n = 26), while in pyridoxine responsive patients the median activity was 16 nmol/hour/L (range 0-358; n = 28); this overlapped with the enzyme activity from control subject. The presence of CBS in human plasma was confirmed by an in silico search of the proteome database, and was further evidenced by the activation of CBS by S-adenosyl-L-methionine and pyridoxal 5'-phosphate, and by configuration of the detected reaction product, 3,3-(2)H-cystathionine, which was in agreement with the previously observed CBS reaction mechanism. We hypothesize that the CBS enzyme in plasma originates from liver cells, as the plasma CBS activities in patients with elevated liver aminotransferase activities were more than 30-fold increased. In this study, we have demonstrated that CBS is present in human plasma and that its catalytic activity is detectable by LC-MS/MS. CBS assay in human plasma brings new possibilities in the diagnosis of pyridoxine nonresponsive CBS deficiency.
dcterms:title
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
skos:prefLabel
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
skos:notation
RIV/00064165:_____/11:8960!RIV12-MZ0-00064165
n14:predkladatel
n15:ico%3A00064165
n4:aktivita
n12:Z
n4:aktivity
Z(MSM0021620806), Z(MZ0VFN2005)
n4:cisloPeriodika
1
n4:dodaniDat
n10:2012
n4:domaciTvurceVysledku
n5:9185283 n5:3950131
n4:druhVysledku
n16:J
n4:duvernostUdaju
n11:S
n4:entitaPredkladatele
n18:predkladatel
n4:idSjednocenehoVysledku
193818
n4:idVysledku
RIV/00064165:_____/11:8960
n4:jazykVysledku
n19:eng
n4:klicovaSlova
Cystathionine Beta-synthase; Homocysteine; enzyme activity assay; mass spectrometry
n4:klicoveSlovo
n9:mass%20spectrometry n9:Cystathionine%20Beta-synthase n9:Homocysteine n9:enzyme%20activity%20assay
n4:kodStatuVydavatele
NL - Nizozemsko
n4:kontrolniKodProRIV
[BCED77A37AEA]
n4:nazevZdroje
Journal of Inherited Metabolic Disease
n4:obor
n17:FB
n4:pocetDomacichTvurcuVysledku
2
n4:pocetTvurcuVysledku
7
n4:rokUplatneniVysledku
n10:2011
n4:svazekPeriodika
34
n4:tvurceVysledku
Hnízda, Aleš Krijt, Jakub Moat, Stuart Kopecká, Jana Kožich, Viktor Kluijtmans, Leo AJ Mayne, Phillip
n4:wos
000286607000006
n4:zamer
n6:MZ0VFN2005 n6:MSM0021620806
s:issn
0141-8955
s:numberOfPages
7