title: Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin.
abstract: Imaging mass spectrometry (IMS) is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well as to identify molecular species in tissues and cells without labeling. To protect against excess water loss that is essential for survival in a terrestrial environment, mammalian skin possesses a competent permeability barrier in the stratum corneum (SC), the outermost layer of the epidermis. The key lipids constituting this barrier in the SC are the ceramides (Cers) comprising of a heterogeneous molecular species. Alterations in Cer composition have been reported in several skin diseases that display abnormalities in the epidermal permeability barrier function. Not only the amounts of different Cers, but also their localizations are critical for the barrier function. We have employed our new imaging system, capable of high-lateral-resolution IMS with an atmospheric-pressure ionization source, to directly visualize the distribution of Cers. Moreover, we show an ichthyotic disease pathogenesis due to abnormal Cer metabolism in Dorfman-Chanarin syndrome, a neutral lipid storage disorder with ichthyosis in human skin, demonstrating that IMS is a novel diagnostic approach for assessing lipid abnormalities in clinical setting, as well as for investigating physiological roles of lipids in cells/tissues.
authors.affiliation: Department of Cell Biology and Anatomy, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, Shizuoka, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Goto-Inoue
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hayasaka
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Zaima
authors.forename: Kimiko
authors.initials: K
authors.lastname: Nakajima
authors.forename: Walter M
authors.initials: WM
authors.lastname: Holleran
authors.forename: Shigetoshi
authors.initials: S
authors.lastname: Sano
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Uchida
authors.forename: Mitsutoshi
authors.initials: M
authors.lastname: Setou
mesh_terms: D000818:Animals; D002518:Ceramides / Q000378:metabolism*; D003952:Diagnostic Imaging; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis* / Q000378:metabolism*; D007477:Ions / Q000737:chemistry / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism*; D008055:Lipids / Q000737:chemistry; D013058:Mass Spectrometry; D051379:Mice; D057054:Molecular Imaging; D009135:Muscular Diseases / Q000175:diagnosis* / Q000378:metabolism*; D010713:Phosphatidylcholines / Q000737:chemistry / Q000378:metabolism; D010744:Phosphoric Monoester Hydrolases / Q000737:chemistry / Q000378:metabolism; D012867:Skin / Q000737:chemistry / Q000378:metabolism* / Q000473:pathology
chemical_list: D002518:Ceramides; D007477:Ions; D008055:Lipids; D010713:Phosphatidylcholines; C083741:ceramide-1-phosphate phosphatase; D010744:Phosphoric Monoester Hydrolases