Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome |
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| Authors: | Yitao Luo Chengqiang Zhang Li Ma Yuxiao Zhang Zhengyuan Liu Li Chen Rui Wang Yujing Luan Yulan Rao |
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| Affiliation: | 1. Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, PR China;2. Department of Neonatology, Obstetrics and Gynecology Hospital Affiliated to Fudan University, Shanghai, PR China;3. Department of Neonatology, Shanghai Children''s Hospital Shanghai Jiao Tong University, Shanghai, PR China;4. Institutes of Biomedical Sciences, Fudan University, Shanghai, PR China;5. Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, Victoria, Australia;6. Department of Medical Microbiology, Key Laboratory of Medical Molecular Virology of Ministries of Education and Health, School of Basic Medical Sciences, Fudan University, Shanghai, PR China;7. College of Forensic Medicine, Kunming Medical University, Kunming, PR China;8. Institute of Forensic Science, Ministry of Public Security, Beijing, PR China |
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| Abstract: | 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. |
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| Keywords: | hair analysis gas chromatography-mass spectrometry micro-pulverized extraction microwave-assisted derivatization diagnostic test 7-DHC" },{" #name" :" keyword" ," $" :{" id" :" kwrd0040" }," $$" :[{" #name" :" text" ," _" :" 7-dehydrocholesterol BHT" },{" #name" :" keyword" ," $" :{" id" :" kwrd0050" }," $$" :[{" #name" :" text" ," _" :" 2,6-Di-tert-butyl-4-methylphenol CHOL" },{" #name" :" keyword" ," $" :{" id" :" kwrd0060" }," $$" :[{" #name" :" text" ," _" :" cholesterol DHCR7" },{" #name" :" keyword" ," $" :{" id" :" kwrd0070" }," $$" :[{" #name" :" text" ," _" :" 7-dehydrocholesterol reductase KOH" },{" #name" :" keyword" ," $" :{" id" :" kwrd0080" }," $$" :[{" #name" :" text" ," _" :" Potassium hydroxide LLE" },{" #name" :" keyword" ," $" :{" id" :" kwrd0090" }," $$" :[{" #name" :" text" ," _" :" liquid-liquid extraction LLOQ" },{" #name" :" keyword" ," $" :{" id" :" kwrd0100" }," $$" :[{" #name" :" text" ," _" :" lower limit of quantification LOD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0110" }," $$" :[{" #name" :" text" ," _" :" limit of detection MPE" },{" #name" :" keyword" ," $" :{" id" :" kwrd0120" }," $$" :[{" #name" :" text" ," _" :" Micro-pulverized extraction RSD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0130" }," $$" :[{" #name" :" text" ," _" :" relative standard deviation SLOS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0140" }," $$" :[{" #name" :" text" ," _" :" Smith-Lemli-Opitz syndrome TFA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0150" }," $$" :[{" #name" :" text" ," _" :" trifluoroacetic acid TPP" },{" #name" :" keyword" ," $" :{" id" :" kwrd0160" }," $$" :[{" #name" :" text" ," _" :" triphenylphosphine |
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