Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10294486" target="_blank" >RIV/00216208:11110/15:10294486 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/15:10294486

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.cca.2014.09.009" target="_blank" >http://dx.doi.org/10.1016/j.cca.2014.09.009</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.cca.2014.09.009" target="_blank" >10.1016/j.cca.2014.09.009</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS

Popis výsledku v původním jazyce

Background: Cystathionine beta-synthase (CBS) is released into plasma from organs expressing this enzyme. Decreased plasma CBS activity has been demonstrated in CBS-deficient patients with 16 different genotypes. The aim of this study was to determine plasma CBS activity in patients carrying 11 additional genotypes using two LC-MS/MS methods. Patients and methods CBS activity was measured in EDTA or heparin plasma using either a previously described or a newly developed LC-MS/MS method optimized for analysis of the reaction product, 3,3-H-2(2)-cystathionine, as its butyl ester derivative. We analyzed plasma samples from 26 CBS-deficient patients with known genotypes and 57 controls. Results: We developed a new LC-MS/MS method for simple and sensitive determination of CBS activity. Plasma CBS activity was low (i.e., 0.001-0.036 of the multiples of median control values, MOM) in patients homozygous for the prevalent Hispanic mutation c572C>T (p.T191M) but was highly elevated (2.95 MoM) i

Název v anglickém jazyce

Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS

Popis výsledku anglicky

Background: Cystathionine beta-synthase (CBS) is released into plasma from organs expressing this enzyme. Decreased plasma CBS activity has been demonstrated in CBS-deficient patients with 16 different genotypes. The aim of this study was to determine plasma CBS activity in patients carrying 11 additional genotypes using two LC-MS/MS methods. Patients and methods CBS activity was measured in EDTA or heparin plasma using either a previously described or a newly developed LC-MS/MS method optimized for analysis of the reaction product, 3,3-H-2(2)-cystathionine, as its butyl ester derivative. We analyzed plasma samples from 26 CBS-deficient patients with known genotypes and 57 controls. Results: We developed a new LC-MS/MS method for simple and sensitive determination of CBS activity. Plasma CBS activity was low (i.e., 0.001-0.036 of the multiples of median control values, MOM) in patients homozygous for the prevalent Hispanic mutation c572C>T (p.T191M) but was highly elevated (2.95 MoM) i

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

—

Projekt

<a href="/cs/project/NT14159" target="_blank" >NT14159: Plazmatické aktivity intracelulárních enzymů u vybraných dědičných poruch metabolismu – možnosti využití pro diagnostiku a predikci účinnosti léčby.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Clinica Chimica Acta

ISSN

0009-8981

e-ISSN

—

Svazek periodika

438

Číslo periodika v rámci svazku

January

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

5

Strana od-do

261-265

Kód UT WoS článku

000346616800048

EID výsledku v databázi Scopus

2-s2.0-84907546223