Neutral Lipid Storage Leads to Acylceramide Deficiency, Likely Contributing to the Pathogenesis of Dorfman–Chanarin Syndrome

Uchida, Yoshikazu; Cho, Yunhi; Moradian, Sam; Kim, Jungmin; Nakajima, Kimiko; Crumrine, Debra; Park, Kyungho; Ujihara, Mayumi; Akiyama, Masashi; Shimizu, Hiroshi; Holleran, Walter M.; Sano, Shigetoshi; Elias, Peter M.

doi:10.1038/jid.2010.145

Cited by 54 publications

(53 citation statements)

References 16 publications

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“…Other diseases in which skin ceramide metabolism is affected, include the deficiency of epidermal protein-boundhydroxyceramides in atopic dermatitis (Macheleidt et al, 2002), acylceramide deficiency in Dorfman-Chanarin syndrome (CGI-58 deficiency; Uchida et al, 2010), and ABCA12 deficiency in Harlequin ichthyosis (Akiyama et al, 2005).…”

Section: Epidermis: Covalently Bound Fatty Acids and Sphingolipidsmentioning

confidence: 99%

A view on sphingolipids and disease

Kolter

2011

Chemistry and Physics of Lipids

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Section: Epidermis: Covalently Bound Fatty Acids and Sphingolipidsmentioning

confidence: 99%

A view on sphingolipids and disease

Kolter

2011

Chemistry and Physics of Lipids

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“…Cgi-58 knockout mice die soon after birth from water loss, a consequence of a severe defect in the permeability barrier of the epidermis. CGI-58 deficiency causes a marked reduction of epidermal acylceramides in mice and humans (Radner et al 2010;Uchida et al 2010). Since acylceramides are essential lipids in the formation of the corneocyte lipid envelope, their absence in CGI-58-deficient skin is most likely responsible for the epidermal barrier defect.…”

Section: Cgi-58 Deficiency and Nlsdimentioning

confidence: 99%

Biochemistry and pathophysiology of intravascular and intracellular lipolysis

2013

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All organisms use fatty acids (FAs) for energy substrates and as precursors for membrane and signaling lipids. The most efficient way to transport and store FAs is in the form of triglycerides (TGs); however, TGs are not capable of traversing biological membranes and therefore need to be cleaved by TG hydrolases (“lipases”) before moving in or out of cells. This biochemical process is generally called “lipolysis.” Intravascular lipolysis degrades lipoprotein-associated TGs to FAs for their subsequent uptake by parenchymal cells, whereas intracellular lipolysis generates FAs and glycerol for their release (in the case of white adipose tissue) or use by cells (in the case of other tissues). Although the importance of lipolysis has been recognized for decades, many of the key proteins involved in lipolysis have been uncovered only recently. Important new developments include the discovery of glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1), the molecule that moves lipoprotein lipase from the interstitial spaces to the capillary lumen, and the discovery of adipose triglyceride lipase (ATGL) and comparative gene identification-58 (CGI-58) as crucial molecules in the hydrolysis of TGs within cells. This review summarizes current views of lipolysis and highlights the relevance of this process to human disease.

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“…In contrast, ceramide (Cer) 1, 6, 7 were decreased in the patient's scales compared with those in control samples, while membrane-bound Cer species, Cer A, which are constituent of the corneocyte lipid envelope (CLE), were increased. We recently demonstrated that linoleate required for acylceramide synthesis is primarily derived from triglyceride (TG) [6]. However, TG content was not changed in SLS compared with that in control scales (Fig.…”

mentioning

confidence: 97%

“…Scales were taken from the upper back skin of the patient or control subjects. Gene and lipid analysis were performed as we described previously[4,6].…”

mentioning

confidence: 99%