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Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61388963%3A_____%2F21%3A00541394" target="_blank" >RIV/61388963:_____/21:00541394 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11310/21:10430800

  • Result on the web

    <a href="https://doi.org/10.1016/j.talanta.2021.122260" target="_blank" >https://doi.org/10.1016/j.talanta.2021.122260</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.talanta.2021.122260" target="_blank" >10.1016/j.talanta.2021.122260</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis

  • Original language description

    7-Dehydrocholesterol is an essential biomarker of Smith-Lemli-Opitz syndrome, a congenital autosomal recessive disorder. This study shows for the first time that electrochemical oxidation of 7-dehydrocholesterol can be used for its voltammetric determination. Two classes of supporting electrolytes in acetonitrile and a mixture of acetonitrile-water were used: inorganic acids known to promote structural changes of steroids and indifferent electrolytes. Oxidation of 7-dehydrocholesterol at ca +0.8 V (vs. Ag/AgNO3 in acetonitrile) in 0.1 mol L−1 NaClO4 in acetonitrile is useful for its voltammetric detection using common bare electrode materials. Detection limits for 7-dehydrocholesterol lie in the low micromolar range for all the working electrodes, including boron-doped diamond (0.4 μmol L−1) and disposable thin-film platinum electrodes (0.5 μmol L−1), which are advantageous because of the low volumes of studied solutions. After Bligh-Dyer extraction, quantification of 7-dehydrocholesterol concentration (boron-doped diamond) or concentration range (thin-film platinum) is easily attainable in artificial serum. The mere knowledge of the concentration range provides clinically valuable information, as 7-dehydrocholesterol levels are employed for SLOS diagnosis as a binary criterion (elevated, tens to hundreds μmol L−1 in symptomatic/non-elevated, typically bellow 1 μmol L−1 in healthy individuals in plasma). Moreover, it is shown that 7-dehydrocholesterol (provitamin D3) and cholecalciferol (vitamin D3) can be oxidized in 0.1 mol L−1 HClO4 in acetonitrile. Under these conditions, their voltammetric response changes dramatically, and their oxidation potential difference transiently increases from 0.08 V to 0.25 V, which should facilitate their simultaneous voltammetric determination. This work constitutes a foundation for a reliable and straightforward method for Smith-Lemli-Opitz syndrome diagnosis and monitoring 7-dehydrocholesterol’s biotransformation to cholecalciferol.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10406 - Analytical chemistry

Result continuities

  • Project

    <a href="/en/project/GA19-11268S" target="_blank" >GA19-11268S: Electrochemical Methods: New Approaches for Characterization and Analysis of Steroids</a><br>

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2021

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Talanta

  • ISSN

    0039-9140

  • e-ISSN

    1873-3573

  • Volume of the periodical

    229

  • Issue of the periodical within the volume

    Jul

  • Country of publishing house

    NL - THE KINGDOM OF THE NETHERLANDS

  • Number of pages

    9

  • Pages from-to

    122260

  • UT code for WoS article

    000657115500010

  • EID of the result in the Scopus database

    2-s2.0-85102654483