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Ceramide profiling of stratum corneum in Sjögren–Larsson syndrome
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| Title: | Ceramide profiling of stratum corneum in Sjögren–Larsson syndrome |
| Authors: | Arai, Ayami Browse this author | | Takeichi, Takuya Browse this author | | Wakamoto, Hiroyuki Browse this author | | Sassa, Takayuki Browse this author →KAKEN DB | | Ito, Yasutoshi Browse this author | | Murase, Yuya Browse this author | | Ogi, Tomoo Browse this author | | Akiyama, Masashi Browse this author →KAKEN DB | | Kihara, Akio Browse this author →KAKEN DB |
| Keywords: | Acylceramide | | Ceramide | | Ichthyosis | | Mass spectrometry | | Sjogren– Larsson syndrome | | Skin permeability barrier |
| Issue Date: | Sep-2022 |
| Publisher: | Elsevier |
| Journal Title: | Journal of dermatological science |
| Volume: | 107 |
| Issue: | 3 |
| Start Page: | 114 |
| End Page: | 122 |
| Publisher DOI: | 10.1016/j.jdermsci.2022.08.003 |
| Abstract: | Background: Sjogren-Larsson syndrome (SLS) is a neurocutaneous disorder whose causative gene is the fatty aldehyde dehydrogenase ALDH3A2 and of which ichthyosis is the major skin symptom. The stratum corneum contains a variety of ceramides, among which omega-O-acylceramides (acylceramides) and protein -bound ceramides are essential for skin permeability barrier formation.Objectives: To determine the ceramide classes/species responsible for SLS pathogenesis and the enzymes that are impaired in SLS. Methods: Genomic DNA was collected from peripheral blood samples from an SLS patient and her parents, and whole-genome sequencing and Sanger sequencing were performed. Lipids were extracted from stratum corneum samples from the SLS patient and healthy volunteers and subjected to ceramide profiling via liquid chromatography coupled with tandem mass spectrometry.Results: A duplication (c.55_130dup) and a missense mutation (p.Lys447Glu) were found in the patient's ALDH3A2 gene. The patient had reduced levels of all acylceramide classes, with total acylceramide levels at 25 % of healthy controls. Reductions were also observed for several nonacylated ceramides: ceramides with phytosphingosine or 6-hydroxysphingosine in the long-chain base moiety were reduced to 24 % and 41 % of control levels, respectively, and ceramides with an alpha-hydroxy fatty acid as the fatty acid moiety were re-duced to 29 %. The fatty acid moiety was shortened in many nonacylated ceramide classes.Conclusion: These results suggest that reduced acylceramide levels are a primary cause of the ichthyosis symptoms of SLS, but reductions in other ceramide classes may also be involved. |
| Rights: | © 2022. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ | | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/90654 |
| Appears in Collections: | 薬学研究院 (Faculty of Pharmaceutical Sciences) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 木原 章雄
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