Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome.
diagnostic test
gas chromatography-mass spectrometry
hair analysis
micro-pulverized extraction
microwave-assisted derivatization
Journal
Journal of lipid research
ISSN: 1539-7262
Titre abrégé: J Lipid Res
Pays: United States
ID NLM: 0376606
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
received:
03
03
2022
revised:
06
05
2022
accepted:
08
05
2022
pubmed:
17
5
2022
medline:
29
6
2022
entrez:
16
5
2022
Statut:
ppublish
Résumé
7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) are biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), a congenital autosomal recessive disorder characterized by elevated 7-DHC level in patients. Hair samples have been shown to have great diagnostic and research value, which has long been neglected in the SLOS field. In this study, we sought to investigate the feasibility of using hair for SLOS diagnosis. In the presence of antioxidants (2,6-ditert-butyl-4-methylphenol and triphenylphosphine), hair samples were completely pulverized and extracted by micro-pulverized extraction in alkaline solution or in n-hexane. After microwave-assisted derivatization with N,O-Bis(trimethylsilyl)trifluoroacetamide, the analytes were measured by GC-MS. We found that the limits of determination for 7-DHC and CHOL were 10 ng/mg and 8 ng/mg, respectively. In addition, good linearity was obtained in the range of 50-4000 ng/mg and 30-6000 ng/mg for 7-DHC and CHOL, respectively, which fully meets the requirement for SLOS diagnosis and related research. Finally, by applying the proposed method to real hair samples collected from 14 healthy infants and two suspected SLOS patients, we confirmed the feasibility of hair analysis as a diagnostic tool for SLOS. In conclusion, we present an optimized and validated analytical method for the simultaneous determination of two SLOS biomarkers using human hair.
Identifiants
pubmed: 35577137
pii: S0022-2275(22)00061-X
doi: 10.1016/j.jlr.2022.100228
pmc: PMC9207299
pii:
doi:
Substances chimiques
Biomarkers
0
Dehydrocholesterols
0
Cholesterol
97C5T2UQ7J
7-dehydrocholesterol
BK1IU07GKF
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
100228Informations de copyright
Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of interest The authors declare that there are no conflicts of interest with the contents of this article.
Références
J Steroid Biochem Mol Biol. 2016 Sep;162:92-9
pubmed: 26718873
Expert Rev Mol Med. 2011 Jul 22;13:e24
pubmed: 21777499
Analyst. 1999 Sep;124(9):1297-300
pubmed: 10736853
J Am Chem Soc. 2009 Sep 16;131(36):13037-44
pubmed: 19705847
Hum Genome Var. 2017 May 11;4:17015
pubmed: 28503313
J Steroid Biochem Mol Biol. 2019 Jun;190:115-125
pubmed: 30940596
Analyst. 2000 Apr;125(4):711-4
pubmed: 10892024
J Chromatogr B Analyt Technol Biomed Life Sci. 2020 May 1;1144:122058
pubmed: 32224437
J Lipid Res. 2014 Feb;55(2):329-37
pubmed: 24259532
J Am Chem Soc. 2010 Feb 24;132(7):2222-32
pubmed: 20121089
J Pediatr Endocrinol Metab. 2018 Mar 28;31(4):451-459
pubmed: 29455191
J Pediatr. 1964 Feb;64:210-7
pubmed: 14119520
Prenat Diagn. 2017 Apr;37(4):350-355
pubmed: 28166604
Endocr Pract. 2020 Dec;26(12):1514-1523
pubmed: 33471744
J Chromatogr B Analyt Technol Biomed Life Sci. 2022 Apr 30;1196:123217
pubmed: 35301171
Forensic Sci Int. 2015 Apr;249:53-8
pubmed: 25676714
Anal Bioanal Chem. 2017 Aug;409(20):4751-4769
pubmed: 28634757
Forensic Sci Int. 2017 Oct;279:192-202
pubmed: 28910664
Clin Chim Acta. 2006 Aug;370(1-2):17-49
pubmed: 16624267
J Chromatogr B Analyt Technol Biomed Life Sci. 2020 Nov 30;1159:122392
pubmed: 33126071
J Steroid Biochem Mol Biol. 2010 Nov;122(5):318-25
pubmed: 20804844
Forensic Sci Int. 2015 Sep;254:80-6
pubmed: 26197350
Forensic Sci Int. 2012 Mar 10;216(1-3):101-7
pubmed: 21945303
Chem Res Toxicol. 2010 May 17;23(5):986-95
pubmed: 20423158
Anal Bioanal Chem. 2021 Mar;413(6):1765-1776
pubmed: 33511457
J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Oct 15;907:154-8
pubmed: 22985726
Clin Chem. 2016 Dec;62(12):1658-1667
pubmed: 27784706
J Steroid Biochem Mol Biol. 2016 Jan;155(Pt A):9-17
pubmed: 26385606
Clin Chim Acta. 1995 Apr 30;236(1):45-58
pubmed: 7664465
J Chromatogr A. 2020 Aug 2;1624:461179
pubmed: 32540057
Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62
pubmed: 23059950
Forensic Sci Int. 2012 May 10;218(1-3):20-4
pubmed: 22088946
J Mass Spectrom. 2014 Sep;49(9):936-46
pubmed: 25230191
J Chromatogr A. 2020 Feb 8;1612:460648
pubmed: 31679711
Steroids. 2020 Dec;164:108732
pubmed: 32976917
J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):131-42
pubmed: 16006202
Forensic Sci Int. 2017 Nov;280:176-180
pubmed: 29073515
J Chromatogr B Biomed Sci Appl. 1998 Oct 23;718(1):23-32
pubmed: 9832356
ScientificWorldJournal. 2009 Apr 27;9:255-71
pubmed: 19412554
J Anal Toxicol. 2020 Oct 12;44(7):628-636
pubmed: 32672810
J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jan 25;766(2):365-70
pubmed: 11824824
Ther Drug Monit. 1996 Aug;18(4):438-43
pubmed: 8857565
Clin Chim Acta. 2013 Jun 5;421:62-72
pubmed: 23499572
Ginekol Pol. 2020;91(5):287-293
pubmed: 32495936
J Pharm Biomed Anal. 2016 Sep 5;128:426-437
pubmed: 27344632
Clin Chim Acta. 2013 Oct 21;425:3-8
pubmed: 23827692
Drug Test Anal. 2016 Oct;8(10):996-1004
pubmed: 27402378
J Lipid Res. 2010 Nov;51(11):3259-69
pubmed: 20702862
J Lipid Res. 2013 Jan;54(1):244-53
pubmed: 23072947
Anal Bioanal Chem. 2016 Mar;408(8):2043-54
pubmed: 26873203
Eur J Hum Genet. 2008 May;16(5):535-41
pubmed: 18285838
Talanta. 2015 Mar;134:310-316
pubmed: 25618673
Molecules. 2021 Jul 25;26(15):
pubmed: 34361640
J Appl Physiol Respir Environ Exerc Physiol. 1984 May;56(5):1302-7
pubmed: 6327585
Biomed Chromatogr. 2006 Oct;20(10):999-1003
pubmed: 16544269
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Nov 10;37(11):1272-1275
pubmed: 33179238
Talanta. 2021 Jan 15;222:121499
pubmed: 33167212
Talanta. 2019 Mar 1;194:576-584
pubmed: 30609575
Am J Med Genet A. 2006 Oct 1;140(19):2057-62
pubmed: 16906538