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

0541394 - ÚOCHB 2022 RIV NL eng J - Článek v odborném periodiku
Klouda, J. - Benešová, L. - Kočovský, Pavel - Schwarzová-Pecková, K.
Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis.
Talanta. Roč. 229, Jul (2021), č. článku 122260. ISSN 0039-9140. E-ISSN 1873-3573
Institucionální podpora: RVO:61388963
Klíčová slova: 7-dehydrocholesterol * artificial serum * bare electrodes * cholecalciferol * voltammetry
Obor OECD: Analytical chemistry
Impakt faktor: 6.556, rok: 2021
Způsob publikování: Omezený přístup
https://doi.org/10.1016/j.talanta.2021.122260

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.
Trvalý link: http://hdl.handle.net/11104/0318950