Ceramide profiling of stratum corneum in Sjögren–Larsson syndrome

Arai, Ayami; Takeichi, Takuya; Wakamoto, Hiroyuki; Sassa, Takayuki; Ito, Yasutoshi; Murase, Yuya; Ogi, Tomoo; Akiyama, Masashi; Kihara, Akio

Ceramide profiling of stratum corneum in Sjögren–Larsson syndrome

Arai, Ayami; Takeichi, Takuya; Wakamoto, Hiroyuki et al.

Journal of dermatological science, 2022, 107(3), 114-122

Permalink : https://hdl.handle.net/2115/90654

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アクセス権	open access
URI	https://hdl.handle.net/2115/90654
タイトル	Ceramide profiling of stratum corneum in Sjögren–Larsson syndrome
著者	Arai, Ayami ; Takeichi, Takuya ; Wakamoto, Hiroyuki ; Sassa, Takayuki ; Ito, Yasutoshi ; Murase, Yuya ; Ogi, Tomoo ; Akiyama, Masashi ; Kihara, Akio
著者名 Arai, Ayami
著者名 Takeichi, Takuya
著者名 Wakamoto, Hiroyuki
e-Rad_Researcher 20342793 著者名 Sassa, Takayuki
著者名 Ito, Yasutoshi
著者名 Murase, Yuya
著者名 Ogi, Tomoo
e-Rad_Researcher 60222551 著者名 Akiyama, Masashi
e-Rad_Researcher 50333620 著者名 Kihara, Akio
言語	英語
キーワード	Acylceramide
	Ceramide
	Ichthyosis
	Mass spectrometry
	Sjogren– Larsson syndrome
	Skin permeability barrier
発行日	2022-09
出版者	Elsevier
収録物名	Journal of dermatological science
巻(号)	107(3)
ページ	114-122
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
権利情報	© 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/
PISSN	0923-1811
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1016/j.jdermsci.2022.08.003