Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome

Luo, Yitao; Zhang, Chengqiang; Zhang, Yuxiao; Liu, Zhengyuan; Chen, Li; Wang, Rui; Luan, Yujing; Rao, Yulan

doi:10.1016/j.jlr.2022.100228

Cited by 6 publications

(2 citation statements)

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“…In this paper, we focused on cholesterol, 35) one of the causes of lifestyle-related diseases, and analyzed the correlation between total cholesterol (TC) value in the blood of 24 subjects and the intensity of cholesterol detected from hair using MALDI-MSI. As a result, a positive correlation with a correlation coefficient of 0.43 was observed between blood TC values and the intensity of cholesterol detected from hair.…”

Section: Introductionmentioning

confidence: 99%

Analysis of the Correlation between Cholesterol Levels in Blood Using Clinical Data and Hair Using Mass Spectrometry Imaging

Nagano,

Saito,

Mannari

et al. 2024

Mass Spectrometry

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Mass spectrometry imaging (MSI) is a technique that visualizes the distribution of molecules by ionizing the components on the surface of a sample and directly detecting them. Previously, MSI using hair has primarily been used in the forensic field to detect illegal drugs. On the other hand, there are few examples of using this technology for health monitoring. In this study, hair and clinical data were collected from 24 subjects, and the correlation between blood cholesterol levels and cholesterol detected from cross-sectional hair slices was analyzed. As a result, a positive correlation with a correlation coefficient of 0.43 was observed between blood cholesterol and cholesterol detected from hair. Furthermore, when comparing the results of fluorescence staining (FS) of hair cholesterol with Filipin III and the MSI results, it was found that while FS could visualize detailed hair structures, there were cases where the results differed from MSI, possibly due to some cholesterol loss during the staining process. In the future, if various disease biomarkers can be detected using hair MSI, it could potentially become a non-invasive diagnostic method.

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Section: Introductionmentioning

confidence: 99%

Analysis of the Correlation between Cholesterol Levels in Blood Using Clinical Data and Hair Using Mass Spectrometry Imaging

Nagano,

Saito,

Mannari

et al. 2024

Mass Spectrometry

View full text Add to dashboard Cite

show abstract

“…Defective cholesterol biosynthesis secondary to a decreased activity of 7-dehydrocholesterol reductase causes the Smith-Lemli-Opitz syndrome [4]. This autosomal recessive syndrome is characterized by multiple congenital malformations and behavioral and cognitive abnormalities.…”

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confidence: 99%