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- Title
Hepoxilin A<sub>3</sub> (HXA<sub>3</sub>) synthase deficiency is causative of a novel ichthyosis form
- Authors
Nigam, Santosh; Zafiriou, Maria-Patapia; Deva, Rupal; Kerstin, Nadja; Geilen, Christoph; Ciccoli, Roberto; Sczepanski, Marco; Lohse, Maren
- Abstract
Abstract: Non-bullous congenital ichthyosis erythroderma (NCIE) and lamellar ichthyosis (LI) are characterized by mutations in 12R-lipoxygenase (12R-LOX) and/or epidermal lipoxygenase 3 (eLOX3) enzymes. The eLOX3 lacks oxygenase activity, but is capable of forming hepoxilin-type products from arachidonic acid-derived hydroperoxide from 12R-LOX, termed 12R-hydroperoxyeicosa-5,8,10,14-tetraenoic acid (12R-HpETE). Mutations in either of two enzymes lead to NCIE or LI. Moreover, 12R-LOX-deficient mice exhibit severe phenotypic water barrier dysfunctions. Here, we demonstrate that 12R-HpETE can also be transformed to 8R-HXA3 by hepoxilin A3 (HXA3) synthase (12-lipoxygenase), which exhibits oxygenase activity. We also presented a novel form of ichthyosis in a patient, termed hepoxilin A3 synthase-linked ichthyosis (HXALI), whose scales expressed high levels of 12R-LOX, but were deficient of HXA3 synthase.
- Subjects
CHROMATOGRAPHIC analysis; HIGH performance liquid chromatography; ICHTHYOSIS; LIQUID chromatography
- Publication
FEBS Letters, 2008, Vol 582, Issue 2, p279
- ISSN
0014-5793
- Publication type
Article
- DOI
10.1016/j.febslet.2007.12.017