Thioethers as markers of hydrogen sulfide production in homocystinurias

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10327360" target="_blank" >RIV/00064165:_____/16:10327360 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/16:10327360

Result on the web

<a href="http://dx.doi.org/10.1016/j.biochi.2016.01.001" target="_blank" >http://dx.doi.org/10.1016/j.biochi.2016.01.001</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.biochi.2016.01.001" target="_blank" >10.1016/j.biochi.2016.01.001</a>

Result language

angličtina

Original language name

Thioethers as markers of hydrogen sulfide production in homocystinurias

Original language description

In this study we explored whether the impaired flux of substrates for H2S synthesis and/or deficient enzyme activities alter production of hydrogen sulfide in patients with homocystinurias using thioethers as an indirect measure of H2S synthesis. In patients with classical homocystinuria we observed significantly decreased cystathionine and lanthionine concentrations in plasma (46% and 74% of median control levels, respectively) and significantly lower cystathionine in fibroblasts (8% of median control concentrations) indicating that H2S production from cysteine and homocysteine may be also impaired. In contrast, the grossly elevated plasma levels of homolanthionine in plasma from CBS deficient patients (32-times elevation compared to median of controls) clearly demonstrates a simultaneous overproduction of H2S from homocysteine by CTH. In the remethylation defects the accumulation of homocysteine and the increased flux of metabolites through the transsulfuration pathway resulted in elevation of cystathionine and homolanthionine (857% and 400% of median control values, respectively) indicating possibly an increased biosynthesis of H2S by both CBS and CTH. This study shows clearly disturbed thioether concentrations in homocystinurias, and modeling using these data indicates that H2S synthesis may be increased in these conditions. Further studies are needed to explore the possible implications of these findings for pathophysiology of these disorders.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

—

Project

<a href="/en/project/LD14082" target="_blank" >LD14082: Hydrogen sulfide metabolism in homocystinurias</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

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

Name of the periodical

Biochimie

ISSN

0300-9084

e-ISSN

—

Volume of the periodical

126

Issue of the periodical within the volume

July

Country of publishing house

FR - FRANCE

Number of pages

7

Pages from-to

14-20

UT code for WoS article

000378963500004

EID of the result in the Scopus database

2-s2.0-84955324857